| Year |
Citation |
Score |
| 2024 |
Prato A, Cirnigliaro L, Maugeri F, Luca A, Giuliano L, Vitiello G, Errichiello E, Valente EM, Del Giudice E, Mostile G, Rizzo R, Barone R. Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements. Journal of Clinical Medicine. 13. PMID 38398422 DOI: 10.3390/jcm13041109 |
0.327 |
|
| 2023 |
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, ... ... Valente EM, et al. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European Journal of Human Genetics : Ejhg. PMID 37344571 DOI: 10.1038/s41431-023-01410-z |
0.543 |
|
| 2023 |
De Filippi P, Errichiello E, Toscano A, Mongini T, Moggio M, Ravaglia S, Filosto M, Servidei S, Musumeci O, Giannini F, Piperno A, Siciliano G, Ricci G, Di Muzio A, Rigoldi M, ... ... Valente EM, et al. Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD). Current Issues in Molecular Biology. 45: 2847-2860. PMID 37185710 DOI: 10.3390/cimb45040186 |
0.321 |
|
| 2023 |
Ciaccio C, Pantaleoni C, Moscatelli M, Chiapparini L, Nigro V, Valente EM, Sciacca F, Canafoglia L, Bulgheroni S, D'Arrigo S. Neurologic, Neuropsychologic, and Neuroradiologic Features of -Related Syndrome. Neurology. Genetics. 9: e200049. PMID 37090941 DOI: 10.1212/NXG.0000000000200049 |
0.331 |
|
| 2023 |
De Michele G, Palmieri GR, Pane C, Valente EM, Palmieri I, Dello Iacovo CDP, Cuomo N, Giglio A, De Lucia N, Fico T, Perillo S, De Michele G, De Rosa A. Motor and non-motor features in Parkinson's Disease patients carrying GBA gene mutations. Acta Neurologica Belgica. PMID 36609835 DOI: 10.1007/s13760-022-02165-y |
0.348 |
|
| 2022 |
Brunetti S, Micheletti S, Palmieri I, Valente EM, Fazzi E. Benign Hereditary Chorea as a Manifestation of HPCA Mutation. Movement Disorders Clinical Practice. 10: 130-134. PMID 36704070 DOI: 10.1002/mdc3.13572 |
0.351 |
|
| 2022 |
Sirchia F, Giorgio E, Cucinella L, Valente EM, Nappi RE. Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency. Journal of Assisted Reproduction and Genetics. 39: 1177-1181. PMID 35352317 DOI: 10.1007/s10815-022-02471-7 |
0.35 |
|
| 2022 |
Pollara L, Sottile V, Valente EM. Patient-derived cellular models of primary ciliopathies. Journal of Medical Genetics. PMID 35184035 DOI: 10.1136/jmedgenet-2021-108315 |
0.306 |
|
| 2021 |
Antonelli F, Grieco G, Cavallieri F, Casella A, Valente EM. Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration. Parkinsonism & Related Disorders. 94: 22-24. PMID 34864472 DOI: 10.1016/j.parkreldis.2021.10.033 |
0.306 |
|
| 2021 |
Nuovo S, Baglioni V, De Mori R, Tardivo S, Caputi C, Ginevrino M, Micalizzi A, Masuelli L, Federici G, Casella A, Lorefice E, Anello D, Tolve M, Farini D, Bertini E, ... ... Valente EM, et al. Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. Human Mutation. 43: 67-73. PMID 34747546 DOI: 10.1002/humu.24293 |
0.335 |
|
| 2021 |
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, ... ... Valente EM, et al. haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. Journal of Medical Genetics. PMID 34675124 DOI: 10.1136/jmedgenet-2021-108114 |
0.357 |
|
| 2021 |
Testa F, Sodi A, Signorini S, Di Iorio V, Murro V, Brunetti-Pierri R, Valente EM, Karali M, Melillo P, Banfi S, Simonelli F. Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study. Investigative Ophthalmology & Visual Science. 62: 1. PMID 34196655 DOI: 10.1167/iovs.62.9.1 |
0.397 |
|
| 2021 |
Nuovo S, Micalizzi A, Romaniello R, Arrigoni F, Ginevrino M, Casella A, Serpieri V, D'Arrigo S, Briguglio M, Salerno GG, Rossato S, Sartori S, Leuzzi V, Battini R, Ben-Zeev B, ... ... Valente EM, et al. Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. Journal of Medical Genetics. PMID 34085948 DOI: 10.1136/jmedgenet-2020-107497 |
0.319 |
|
| 2021 |
Di Lazzaro G, Magrinelli F, Estevez-Fraga C, Valente EM, Pisani A, Bhatia KP. X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33960519 DOI: 10.1002/mds.28565 |
0.337 |
|
| 2021 |
Cerri S, Ghezzi C, Ongari G, Croce S, Avenali M, Zangaglia R, Di Monte DA, Valente EM, Blandini F. GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson's Disease. International Journal of Molecular Sciences. 22. PMID 33672321 DOI: 10.3390/ijms22042215 |
0.325 |
|
| 2021 |
Nuovo S, Brankovic V, Caputi C, Casella A, Nigro V, Leuzzi V, Valente EM. Novel unconventional variants expand the allelic spectrum of OPHN1 gene. American Journal of Medical Genetics. Part A. 185: 1575-1581. PMID 33638601 DOI: 10.1002/ajmg.a.62144 |
0.345 |
|
| 2020 |
Abate F, Dati G, Ginevrino M, Valente EM, Barone P, Picillo M. -Related Corticobasal Syndrome: Expanding the List of Corticobasal Degeneration Look Alikes. Movement Disorders Clinical Practice. 7: 849-851. PMID 33043082 DOI: 10.1002/Mdc3.13037 |
0.328 |
|
| 2020 |
Borsche M, König IR, Delcambre S, Petrucci S, Balck A, Brüggemann N, Zimprich A, Wasner K, Pereira SL, Avenali M, Deuschle C, Badanjak K, Ghelfi J, Gasser T, Kasten M, ... ... Valente EM, et al. Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism. Brain : a Journal of Neurology. PMID 33029617 DOI: 10.1093/brain/awaa246 |
0.321 |
|
| 2020 |
Cortese A, Callegari I, Currò R, Vegezzi E, Colnaghi S, Versino M, Alfonsi E, Cosentino G, Valente E, Gana S, Tassorelli C, Pichiecchio A, Rossor AM, Bugiardini E, Biroli A, et al. Mutation in causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic. Journal of Neurology, Neurosurgery, and Psychiatry. 91: 1237-1238. PMID 32943585 DOI: 10.1136/Jnnp-2020-323719 |
0.438 |
|
| 2020 |
Gana S, Plumari M, Rossi E, Saracino A, Iorio M, Zanaboni MP, Orcesi S, Valente EM. Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics Part A. 182: 2722-2726. PMID 32888391 DOI: 10.1002/Ajmg.A.61832 |
0.432 |
|
| 2020 |
Todisco M, Gana S, Cosentino G, Errichiello E, Arceri S, Avenali M, Valente EM, Alfonsi E. KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset Parkinsonism & Related Disorders. 78: 129-133. PMID 32823241 DOI: 10.1016/J.Parkreldis.2020.07.026 |
0.409 |
|
| 2020 |
Nicita F, Ginevrino M, Travaglini L, D'Arrigo S, Zorzi G, Borgatti R, Terrone G, Catteruccia M, Vasco G, Brankovic V, Siliquini S, Romano S, Veredice C, Pedemonte M, Armando M, ... ... Valente EM, et al. Heterozygous variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders. Journal of Medical Genetics. PMID 32737135 DOI: 10.1136/Jmedgenet-2020-107007 |
0.392 |
|
| 2020 |
Ruberto G, Parisi V, Bertone C, Signorini S, Antonini M, Valente EM, Manzoni F, Serpieri V, Fausto R, Quaranta L. Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment. Advances in Therapy. PMID 32671685 DOI: 10.1007/S12325-020-01432-9 |
0.306 |
|
| 2020 |
Petrucci S, Ginevrino M, Trezzi I, Monfrini E, Ricciardi L, Albanese A, Avenali M, Barone P, Bentivoglio AR, Bonifati V, Bove F, Bonanni L, Brusa L, Cereda C, Cossu G, ... ... Valente EM, et al. GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 32658388 DOI: 10.1002/Mds.28195 |
0.351 |
|
| 2020 |
Brunelli F, Valente EM, Arena G. Mechanisms of neurodegeneration in Parkinson's disease: keep neurons in the PINK1. Mechanisms of Ageing and Development. 189: 111277. PMID 32504621 DOI: 10.1016/J.Mad.2020.111277 |
0.357 |
|
| 2020 |
Picillo M, Vitale E, Rendina A, Donizetti A, Aliperti V, Tepedino MF, Dati G, Ginevrino M, Valente EM, Barone P. Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes. Journal of Alzheimer's Disease : Jad. PMID 32474471 DOI: 10.3233/Jad-200151 |
0.478 |
|
| 2020 |
Yoboue ED, Valente EM. PINK1 and Parkin: The odd couple. Neuroscience Research. PMID 32417197 DOI: 10.1016/J.Neures.2020.04.007 |
0.36 |
|
| 2020 |
Gana S, Valente EM. Movement Disorders in Genetic Pediatric Ataxias. Movement Disorders Clinical Practice. 7: 383-393. PMID 32373654 DOI: 10.1002/Mdc3.12937 |
0.377 |
|
| 2020 |
Mancuso M, Filosto M, Lamperti C, Musumeci O, Santorelli FM, Servidei S, Valente EM, Zeviani M, Mancardi G, Tedeschi G, Federico A. Awareness of rare and genetic neurological diseases among italian neurologist. A national survey. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. PMID 31989346 DOI: 10.1007/S10072-020-04271-2 |
0.32 |
|
| 2020 |
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N. Age and sex prevalence estimate of Joubert syndrome in Italy. Neurology. 94: e797-e801. PMID 31969461 DOI: 10.1212/Wnl.0000000000008996 |
0.301 |
|
| 2019 |
Mura M, Bastaroli F, Corli M, Ginevrino M, Calabrò F, Boni M, Crotti L, Valente EM, Schwartz PJ, Gnecchi M. Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1. Stem Cell Research. 42: 101658. PMID 31785541 DOI: 10.1016/J.Scr.2019.101658 |
0.354 |
|
| 2019 |
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, ... ... Valente EM, et al. Healthcare recommendations for Joubert syndrome. American Journal of Medical Genetics. Part A. PMID 31710777 DOI: 10.1002/Ajmg.A.61399 |
0.349 |
|
| 2019 |
Ginevrino M, Battini R, Nuovo S, Simonati A, Micalizzi A, Contaldo I, Serpieri V, Valente EM. A novel IRF2BPL truncating variant is associated with endolysosomal storage. Molecular Biology Reports. 47: 711-714. PMID 31583567 DOI: 10.1007/S11033-019-05109-7 |
0.431 |
|
| 2019 |
Jain S, Bhasin H, Romani M, Valente EM, Sharma S. Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl. Journal of Pediatric Neurosciences. 14: 90-93. PMID 31516627 DOI: 10.4103/Jpn.Jpn_91_18 |
0.366 |
|
| 2019 |
Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, ... ... Valente EM, et al. A clinical diagnostic algorithm for early onset cerebellar ataxia. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 31481303 DOI: 10.1016/J.Ejpn.2019.08.004 |
0.318 |
|
| 2019 |
Menozzi E, Balint B, Latorre A, Valente EM, Rothwell JC, Bhatia KP. Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunction. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 31449710 DOI: 10.1002/Mds.27822 |
0.469 |
|
| 2019 |
De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, ... ... Valente EM, et al. Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2. Brain : a Journal of Neurology. PMID 31412107 DOI: 10.1093/Brain/Awz247 |
0.599 |
|
| 2019 |
Mura M, Pisano F, Stefanello M, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EM, Schwartz PJ, Brink PA, Gnecchi M. Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population. Stem Cell Research. 39: 101510. PMID 31398660 DOI: 10.1016/J.Scr.2019.101510 |
0.4 |
|
| 2019 |
Altieri F, D'Anzi A, Martello F, Tardivo S, Spasari I, Ferrari D, Bernardini L, Lamorte G, Mazzoccoli G, Valente EM, Vescovi AL, Rosati J. Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome. Stem Cell Research. 38: 101480. PMID 31202121 DOI: 10.1016/J.Scr.2019.101480 |
0.451 |
|
| 2019 |
Mura M, Lee YK, Pisano F, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EM, Schwartz PJ, Tse HF, Gnecchi M. Generation of the human induced pluripotent stem cell (hiPSC) line PSMi005-A from a patient carrying the KCNQ1-R190W mutation. Stem Cell Research. 37: 101437. PMID 31009818 DOI: 10.1016/J.Scr.2019.101437 |
0.331 |
|
| 2019 |
Mura M, Lee YK, Pisano F, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EM, Schwartz PJ, Tse HF, Gnecchi M. Generation of the human induced pluripotent stem cell (hiPSC) line PSMi004-A from a carrier of the KCNQ1-R594Q mutation. Stem Cell Research. 37: 101431. PMID 30974404 DOI: 10.1016/J.Scr.2019.101431 |
0.331 |
|
| 2019 |
Mura M, Pisano F, Stefanello M, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EM, Schwartz PJ, Brink PA, Gnecchi M. Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene. Stem Cell Research. 36: 101416. PMID 30878014 DOI: 10.1016/J.Scr.2019.101416 |
0.39 |
|
| 2018 |
Morgante F, Valente EM. LRP10: A novel disease gene bridging Parkinson's disease and dementia with Lewy body. Movement Disorders : Official Journal of the Movement Disorder Society. 34: 47. PMID 30597596 DOI: 10.1002/Mds.27593 |
0.304 |
|
| 2018 |
Nuovo S, Fuiano L, Micalizzi A, Battini R, Bertini E, Borgatti R, Caridi G, D'Arrigo S, Fazzi E, Fischetto R, Ghiggeri GM, Giordano L, Leuzzi V, Romaniello R, Signorini S, ... ... Valente EM, et al. Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome. Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. PMID 30403813 DOI: 10.1093/Ndt/Gfy333 |
0.316 |
|
| 2018 |
Arrigoni F, Romaniello R, Peruzzo D, Poretti A, Bassi MT, Pierpaoli C, Valente EM, Nuovo S, Boltshauser E, Huisman TAGM, Triulzi F, Borgatti R. The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis. European Radiology. 29: 770-782. PMID 30066250 DOI: 10.1007/S00330-018-5610-0 |
0.384 |
|
| 2018 |
Toma C, Ruberto G, Marzi F, Vandelli G, Signorini S, Valente EM, Antonini M, Bertone C, Bianchi PE. Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT. Documenta Ophthalmologica. Advances in Ophthalmology. PMID 29987673 DOI: 10.1007/S10633-018-9646-X |
0.368 |
|
| 2018 |
Valente EM, Nuovo S, Doherty D. Genetics of cerebellar disorders. Handbook of Clinical Neurology. 154: 267-286. PMID 29903444 DOI: 10.1016/B978-0-444-63956-1.00016-3 |
0.376 |
|
| 2018 |
Tian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, Gigante AF, Rudzińska-Bar M, Wszolek ZK, Kennelly KD, Uitti RJ, van Gerpen JA, Hedera P, Trimble EJ, LeDoux MS. Whole-exome sequencing for variant discovery in blepharospasm. Molecular Genetics & Genomic Medicine. PMID 29770609 DOI: 10.1002/Mgg3.411 |
0.343 |
|
| 2018 |
Mura M, Ginevrino M, Zappatore R, Pisano F, Boni M, Castelletti S, Crotti L, Valente EM, Schwartz PJ, Gnecchi M. Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1. Stem Cell Research. 29: 170-173. PMID 29684900 DOI: 10.1016/J.Scr.2018.04.003 |
0.382 |
|
| 2018 |
Mura M, Lee YK, Ginevrino M, Zappatore R, Pisano F, Boni M, Dagradi F, Crotti L, Valente EM, Schwartz PJ, Tse HF, Gnecchi M. Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene. Stem Cell Research. 29: 157-161. PMID 29677589 DOI: 10.1016/J.Scr.2018.04.002 |
0.386 |
|
| 2018 |
Stamelou M, Petrucci S, Ginevrino M, Pons R, Papagiannakis N, Stefanis L, Valente EM. Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation. Journal of the Neurological Sciences. 388: 158. PMID 29627013 DOI: 10.1016/J.Jns.2018.03.026 |
0.416 |
|
| 2018 |
Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, ... ... Valente EM, et al. Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. European Journal of Medical Genetics. PMID 29605658 DOI: 10.1016/J.Ejmg.2018.03.012 |
0.54 |
|
| 2018 |
Valente EM, Bhatia KP. Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key. Cell. 172: 889-891. PMID 29474915 DOI: 10.1016/J.Cell.2018.02.022 |
0.326 |
|
| 2018 |
Rosati J, Altieri F, Tardivo S, Turco EM, Goldoni M, Spasari I, Ferrari D, Bernardini L, Lamorte G, Valente EM, Vescovi AL. Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850). Stem Cell Research. 27: 74-77. PMID 29334628 DOI: 10.1016/J.Scr.2018.01.012 |
0.447 |
|
| 2018 |
Tian J, Valente E, Defazio G, Petrucci S, Gigante A, Vemula S, Xiao J, LeDoux M. Co-segregating CACNA1A indel in pedigree with blepharospasm Parkinsonism & Related Disorders. 46: e52. DOI: 10.1016/J.Parkreldis.2017.11.179 |
0.335 |
|
| 2017 |
Picillo M, Petrucci S, Valente EM, Pappatà S, Squame F, Ginevrino M, Pace L, Barone P, Pellecchia MT. Progressive Supranuclear Palsy-Like Phenotype in a E326K Mutation Carrier. Movement Disorders Clinical Practice. 4: 444-446. PMID 30838276 DOI: 10.1002/Mdc3.12406 |
0.473 |
|
| 2017 |
Petrucci S, Ferrazzano G, Ginevrino M, Tolve M, Berardelli I, Berardelli A, Fabbrini G, Valente EM. Genetic Paradoxes in an Italian Family with Multiexon Duplication. Movement Disorders Clinical Practice. 4: 889-892. PMID 30713982 DOI: 10.1002/Mdc3.12531 |
0.456 |
|
| 2017 |
De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, ... ... Valente EM, et al. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. American Journal of Human Genetics. PMID 28965847 DOI: 10.1016/J.Ajhg.2017.08.017 |
0.597 |
|
| 2017 |
Arrigoni F, Romaniello R, Peruzzo D, De Luca A, Parazzini C, Valente EM, Borgatti R, Triulzi F. Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome. Ajnr. American Journal of Neuroradiology. PMID 28838911 DOI: 10.3174/Ajnr.A5360 |
0.426 |
|
| 2017 |
Vicario M, Calì T, Cieri D, Vallese F, Bortolotto R, Lopreiato R, Zonta F, Nardella M, Micalizzi A, Lefeber DJ, Valente EM, Bertini E, Zanotti G, Zanni G, Brini M, et al. A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 1863: 3303-3312. PMID 28807751 DOI: 10.1016/J.Bbadis.2017.08.006 |
0.472 |
|
| 2017 |
Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, ... ... Valente EM, et al. Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. European Radiology. 27: 5080-5092. PMID 28677066 DOI: 10.1007/S00330-017-4945-2 |
0.392 |
|
| 2017 |
Gelmetti V, De Rosa P, Torosantucci L, Marini ES, Romagnoli A, Di Rienzo M, Arena G, Vignone D, Fimia GM, Valente EM. PINK1 and BECN1 relocalize at mitochondria-associated membranes during mitophagy and promote ER-mitochondria tethering and autophagosome formation. Autophagy. 13: 654-669. PMID 28368777 DOI: 10.1080/15548627.2016.1277309 |
0.342 |
|
| 2017 |
Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, ... ... Valente EM, et al. GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. Neurology. Genetics. 3: e143. PMID 28357411 DOI: 10.1212/Nxg.0000000000000143 |
0.331 |
|
| 2017 |
Masson R, Piretti E, Pellegrin S, Gusson E, Poretti A, Valente EM, Cantalupo G. Early-onset head titubation in a child with Poretti-Boltshauser syndrome. Neurology. PMID 28283601 DOI: 10.1212/Wnl.0000000000003823 |
0.45 |
|
| 2017 |
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, ... ... Valente EM, et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics. PMID 28092684 DOI: 10.1038/Ng.3762 |
0.603 |
|
| 2017 |
Mitchison HM, Valente EM. Motile and non-motile cilia in human pathology: from function to phenotypes. The Journal of Pathology. 241: 294-309. PMID 27859258 DOI: 10.1002/Path.4843 |
0.432 |
|
| 2017 |
Brankovic V, Nuovo S, Zekavica A, Micalizzi A, Poretti A, Valente E. A novel in-frame deletion of OPHN1 in a family with syndromic X-linked mental retardation European Journal of Paediatric Neurology. 21: e53. DOI: 10.1016/J.Ejpn.2017.04.900 |
0.32 |
|
| 2016 |
Makovac E, Cercignani M, Serra L, Torso M, Spanò B, Petrucci S, Ricciardi L, Ginevrino M, Caltagirone C, Bentivoglio AR, Valente EM, Bozzali M. Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form. Plos One. 11: e0163980. PMID 27788143 DOI: 10.1371/Journal.Pone.0163980 |
0.37 |
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| 2016 |
Carecchio M, Reale C, Invernizzi F, Monti V, Petrucci S, Ginevrino M, Morgante F, Zorzi G, Zibordi F, Bentivoglio AR, Valente EM, Nardocci N, Garavaglia B. DYT2 screening in early-onset isolated dystonia. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 21: 269-271. PMID 27771228 DOI: 10.1016/J.Ejpn.2016.10.001 |
0.416 |
|
| 2016 |
Arena G, Valente EM. PINK1 in the limelight: multiple functions of an eclectic protein in human health and disease. The Journal of Pathology. 241: 251-263. PMID 27701735 DOI: 10.1002/Path.4815 |
0.351 |
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| 2016 |
Morgante F, Fasano A, Ginevrino M, Petrucci S, Ricciardi L, Bove F, Criscuolo C, Moccia M, De Rosa A, Sorbera C, Bentivoglio AR, Barone P, De Michele G, Pellecchia MT, Valente EM. Impulsive-compulsive behaviors in parkin-associated Parkinson disease. Neurology. PMID 27590295 DOI: 10.1212/Wnl.0000000000003177 |
0.388 |
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| 2016 |
Bulgheroni S, D'Arrigo S, Signorini S, Briguglio M, Di Sabato ML, Casarano M, Mancini F, Romani M, Alfieri P, Battini R, Zoppello M, Tortorella G, Bertini E, Leuzzi V, Valente EM, et al. Cognitive, adaptive, and behavioral features in Joubert syndrome. American Journal of Medical Genetics. Part A. PMID 27530364 DOI: 10.1002/Ajmg.A.37938 |
0.314 |
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| 2016 |
Micalizzi A, Moroni I, Ginevrino M, Biagini T, Mazza T, Romani M, Valente EM. Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation. Neurogenetics. 17: 191-5. PMID 27251579 DOI: 10.1007/s10048-016-0488-y |
0.414 |
|
| 2016 |
Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, ... ... Valente EM, et al. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. Journal of Medical Genetics. PMID 27208211 DOI: 10.1136/Jmedgenet-2016-103832 |
0.648 |
|
| 2016 |
Romani M, Mehawej C, Mazza T, Mégarbané A, Valente EM. "Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies. Neurology. Genetics. 2: e61. PMID 27123480 DOI: 10.1212/Nxg.0000000000000061 |
0.373 |
|
| 2016 |
Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, ... ... Valente EM, et al. A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Clinical Genetics. PMID 27102574 DOI: 10.1111/Cge.12790 |
0.478 |
|
| 2016 |
Li C, Jensen VL, Park K, Kennedy J, Garcia-Gonzalo FR, Romani M, De Mori R, Bruel AL, Gaillard D, Doray B, Lopez E, Rivière JB, Faivre L, Thauvin-Robinet C, Reiter JF, ... ... Valente EM, et al. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. Plos Biology. 14: e1002416. PMID 26982032 DOI: 10.1371/Journal.Pbio.1002416 |
0.374 |
|
| 2016 |
Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza T, Aiello C, Zanni G, Baumgartner B, Borgatti R, Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein A, ... ... Valente EM, et al. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). European Journal of Human Genetics : Ejhg. 24: 1262-7. PMID 26932191 DOI: 10.1038/ejhg.2016.19 |
0.357 |
|
| 2016 |
Martella G, Madeo G, Maltese M, Vanni V, Puglisi F, Ferraro E, Schirinzi T, Valente EM, Bonanni L, Shen J, Mandolesi G, Mercuri NB, Bonsi P, Pisani A. Exposure to low-dose rotenone precipitates synaptic plasticity alterations in PINK1 heterozygous knockout mice. Neurobiology of Disease. PMID 26916954 DOI: 10.1016/J.Nbd.2015.12.020 |
0.31 |
|
| 2016 |
Ricciardi L, Petrucci S, Giuda DD, Serra L, Spanò B, Sensi M, Ginevrino M, Cocciolillo F, Bozzali M, Valente EM, Fasano A. The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation Movement Disorders. 31: 257-258. PMID 26799529 DOI: 10.1002/Mds.26549 |
0.42 |
|
| 2016 |
Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza T, Aiello C, Zanni G, Baumgartner B, Borgatti R, Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein A, ... ... Valente EM, et al. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome) European Journal of Human Genetics. DOI: 10.1038/Ejhg.2016.19 |
0.462 |
|
| 2016 |
Petrucci S, Ginevrino M, Valente EM. Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models Parkinsonism and Related Disorders. 22: S16-S20. DOI: 10.1016/J.Parkreldis.2015.08.015 |
0.426 |
|
| 2016 |
Micalizzi A, Moroni I, Ginevrino M, Biagini T, Mazza T, Romani M, Valente EM. Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation Neurogenetics. 17: 191-195. DOI: 10.1007/S10048-016-0488-Y |
0.507 |
|
| 2015 |
Gagliardi C, Brenna V, Romaniello R, Arrigoni F, Tavano A, Romani M, Valente EM, Borgatti R. Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report. Research in Developmental Disabilities. 47: 375-84. PMID 26489806 DOI: 10.1016/J.Ridd.2015.09.013 |
0.327 |
|
| 2015 |
Petrucci S, Ginevrino M, Valente EM. Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models. Parkinsonism & Related Disorders. S16-20. PMID 26341711 DOI: 10.1016/j.parkreldis.2015.08.015 |
0.315 |
|
| 2015 |
Di Giacopo R, Cianetti L, Caputo V, La Torraca I, Piemonte F, Ciolfi A, Petrucci S, Carta C, Mariotti P, Leuzzi V, Valente EM, D'Amico A, Bentivoglio A, Bertini E, Tartaglia M, et al. Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs Journal of the Neurological Sciences. 356: 65-71. PMID 26143525 DOI: 10.1016/J.Jns.2015.05.021 |
0.486 |
|
| 2015 |
Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, Østergaard JR, Friederich RL, et al. Altered PLP1 splicing causes hypomyelination of early myelinating structures. Annals of Clinical and Translational Neurology. 2: 648-61. PMID 26125040 DOI: 10.1002/Acn3.203 |
0.417 |
|
| 2015 |
Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, ... ... Valente EM, et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 4. PMID 26026149 DOI: 10.7554/Elife.06602 |
0.61 |
|
| 2015 |
Mormina E, Briguglio M, Morabito R, Arrigo A, Marino S, Di Rosa G, Micalizzi A, Valente EM, Salpietro V, Vinci SL, Longo M, Granata F. A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study. Brain Imaging and Behavior. PMID 25832852 DOI: 10.1007/S11682-015-9377-5 |
0.304 |
|
| 2015 |
Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, Del Dotto V, Porcelli AM, Rugolo M, Valentino ML, Iommarini L, Maresca A, Barboni P, Carbonelli M, Trombetta C, Valente EM, et al. Syndromic parkinsonism and dementia associated with OPA1 missense mutations Annals of Neurology. 78: 21-38. PMID 25820230 DOI: 10.1002/Ana.24410 |
0.458 |
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| 2015 |
Zanellati MC, Monti V, Barzaghi C, Reale C, Nardocci N, Albanese A, Valente EM, Ghezzi D, Garavaglia B. Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts. Frontiers in Genetics. 6: 78. PMID 25815004 DOI: 10.3389/Fgene.2015.00078 |
0.432 |
|
| 2015 |
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, ... ... Valente EM, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. American Journal of Medical Genetics. Part A. 167: 296-312. PMID 25604658 DOI: 10.1002/Ajmg.A.36887 |
0.488 |
|
| 2015 |
Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, ... ... Valente EM, et al. Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? Human Genetics. 134: 123-6. PMID 25407461 DOI: 10.1007/S00439-014-1508-3 |
0.51 |
|
| 2015 |
Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente EM, Gouider-Khouja N. Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort European Journal of Neurology. 22: 178-186. PMID 25164370 DOI: 10.1111/Ene.12552 |
0.457 |
|
| 2015 |
Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, ... ... Valente EM, et al. Author response: Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome Elife. DOI: 10.7554/Elife.06602.021 |
0.572 |
|
| 2015 |
Poretti A, Mancini F, Romani M, Micalizzi A, Fluss J, Koch J, Huisman T, Valente E, Boltshauser E. Corpus Callosum Anomalies in Joubert Syndrome: Low Prevalence and Weak Phenotype–Genotype Correlation Neuropediatrics. 46. DOI: 10.1055/S-0035-1550670 |
0.305 |
|
| 2015 |
De Rosa P, Marini ES, Gelmetti V, Valente EM. Candidate genes for Parkinson disease: Lessons from pathogenesis Clinica Chimica Acta. 449: 68-76. DOI: 10.1016/J.Cca.2015.04.042 |
0.394 |
|
| 2014 |
Theuns J, Verstraeten A, Sleegers K, Wauters E, Gijselinck I, Smolders S, Crosiers D, Corsmit E, Elinck E, Sharma M, Krüger R, Lesage S, Brice A, Chung SJ, Kim MJ, ... ... Valente EM, et al. Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease. Neurology. 83: 1906-13. PMID 25326098 DOI: 10.1212/Wnl.0000000000001012 |
0.316 |
|
| 2014 |
Ricciardi L, Petrucci S, Guidubaldi A, Ialongo T, Serra L, Ferraris A, Spanò B, Bozzali M, Valente EM, Bentivoglio AR. Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families Movement Disorders. 29: 1561-1566. PMID 25164310 DOI: 10.1002/Mds.25994 |
0.396 |
|
| 2014 |
Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, ... ... Valente EM, et al. Mutation of POC1B in a severe syndromic retinal ciliopathy. Human Mutation. 35: 1153-62. PMID 25044745 DOI: 10.1002/Humu.22618 |
0.448 |
|
| 2014 |
Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, ... ... Valente EM, et al. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet Journal of Rare Diseases. 9: 72. PMID 24886560 DOI: 10.1186/1750-1172-9-72 |
0.496 |
|
| 2014 |
Poretti A, Boltshauser E, Valente EM. The molar tooth sign is pathognomonic for joubert syndrome! Pediatric Neurology. 50. PMID 24731480 DOI: 10.1016/J.Pediatrneurol.2013.11.003 |
0.324 |
|
| 2014 |
Mory A, Dagan E, Shahor I, Mandel H, Illi B, Zolotushko J, Kurolap A, Chechik E, Valente EM, Amselem S, Gershoni-Baruch R. Kohlschutter-tonz syndrome: Clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel Pediatric Neurology. 50: 421-426. PMID 24630287 DOI: 10.1016/J.Pediatrneurol.2014.01.006 |
0.482 |
|
| 2014 |
Zanni G, Barresi S, Cohen R, Specchio N, Basel-Vanagaite L, Valente EM, Shuper A, Vigevano F, Bertini E. A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES). Epilepsy Research. 108: 811-5. PMID 24630051 DOI: 10.1016/J.Eplepsyres.2014.02.009 |
0.405 |
|
| 2014 |
Romani S, Illi B, De Mori R, Savino M, Gleeson JG, Valente EM. The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells. Differentiation; Research in Biological Diversity. 87: 134-46. PMID 24613594 DOI: 10.1186/2046-2530-1-S1-P77 |
0.528 |
|
| 2014 |
Bonanni L, Onofrj M, Valente EM, Manzoli L, De Angelis MV, Capasso M, Thomas A. Recurrent and fatal akinetic crisis in genetic-mitochondrial parkinsonisms European Journal of Neurology. 21: 1242-1246. PMID 24471704 DOI: 10.1111/Ene.12364 |
0.512 |
|
| 2014 |
Valente EM, Rosti RO, Gibbs E, Gleeson JG. Primary cilia in neurodevelopmental disorders. Nature Reviews. Neurology. 10: 27-36. PMID 24296655 DOI: 10.1038/Nrneurol.2013.247 |
0.542 |
|
| 2014 |
Madeo G, Schirinzi T, Martella G, Latagliata EC, Puglisi F, Shen J, Valente EM, Federici M, Mercuri NB, Puglisi-Allegra S, Bonsi P, Pisani A. PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity. Movement Disorders : Official Journal of the Movement Disorder Society. 29: 41-53. PMID 24167038 DOI: 10.1002/Mds.25724 |
0.376 |
|
| 2014 |
Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, ... ... Valente EM, et al. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Human Mutation. 35: 137-46. PMID 24166846 DOI: 10.1002/Humu.22470 |
0.628 |
|
| 2014 |
Poretti A, Häusler M, Von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C, Moro F, Zanni G, Santorelli FM, Huisman TAGM, Weis J, Valente EM, Bertini E, Boltshauser E. Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: A new disease? Cerebellum. 13: 79-88. PMID 24013853 DOI: 10.1007/S12311-013-0521-8 |
0.376 |
|
| 2014 |
Valente EM, Dallapiccola B, Bertini E. Joubert syndrome and related disorders. Handbook of Clinical Neurology. 113: 1879-88. PMID 23622411 DOI: 10.1016/B978-0-444-59565-2.00058-7 |
0.414 |
|
| 2014 |
Petrucci S, Consoli F, Valente EM. Parkinson disease genetics: A “continuum” from mendelian to multifactorial inheritance Current Molecular Medicine. 14: 1079-1088. |
0.358 |
|
| 2013 |
Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, ... ... Valente EM, et al. Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 1740-4. PMID 23913756 DOI: 10.1002/Mds.25600 |
0.391 |
|
| 2013 |
Guglielmi V, Vattemi G, Gualandi F, Voermans NC, Marini M, Scotton C, Pegoraro E, Oosterhof A, Kósa M, Zádor E, Valente EM, De Grandis D, Neri M, Codemo V, Novelli A, et al. SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. Molecular Genetics and Metabolism. 110: 162-9. PMID 23911890 DOI: 10.1016/J.Ymgme.2013.07.015 |
0.397 |
|
| 2013 |
Romani M, Micalizzi A, Valente EM. Joubert syndrome: Congenital cerebellar ataxia with the molar tooth The Lancet Neurology. 12: 894-905. PMID 23870701 DOI: 10.1016/S1474-4422(13)70136-4 |
0.489 |
|
| 2013 |
Elia AE, Petrucci S, Fasano A, Guidi M, Valbonesi S, Bernardini L, Consoli F, Ferraris A, Albanese A, Valente EM. Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 813-7. PMID 23744550 DOI: 10.1002/Mds.25518 |
0.345 |
|
| 2013 |
Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, ... ... Valente EM, et al. Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions. Orphanet Journal of Rare Diseases. 8: 75. PMID 23679990 DOI: 10.1186/1750-1172-8-75 |
0.403 |
|
| 2013 |
Carecchio M, Magliozzi M, Copetti M, Ferraris A, Bernardini L, Bonetti M, Defazio G, Edwards MJ, Torrente I, Pellegrini F, Comi C, Bhatia KP, Valente EM. Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: A reappraisal of genetic testing criteria Movement Disorders. 28: 787-794. PMID 23677909 DOI: 10.1002/Mds.25506 |
0.473 |
|
| 2013 |
Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, ... ... Valente EM, et al. Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Human Mutation. 34: 1075-9. PMID 23674478 DOI: 10.1002/Humu.22351 |
0.47 |
|
| 2013 |
Petrucci S, Valente EM. Genetic issues in the diagnosis of dystonias. Frontiers in Neurology. 4: 34. PMID 23596437 DOI: 10.3389/Fneur.2013.00034 |
0.385 |
|
| 2013 |
Arena G, Gelmetti V, Torosantucci L, Vignone D, Lamorte G, De Rosa P, Cilia E, Jonas EA, Valente EM. PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage. Cell Death and Differentiation. 20: 920-30. PMID 23519076 DOI: 10.1038/Cdd.2013.19 |
0.352 |
|
| 2013 |
Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, et al. The syndrome of deafness-dystonia: clinical and genetic heterogeneity. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 795-803. PMID 23418071 DOI: 10.1002/Mds.25394 |
0.472 |
|
| 2013 |
Valente EM, Brancati F, Boltshauser E, Dallapiccola B. Clinical utility gene card for: Joubert syndrome - Update 2013 European Journal of Human Genetics. 21: 1185. PMID 23403901 DOI: 10.1038/Ejhg.2013.10 |
0.362 |
|
| 2013 |
Onofrj M, Varanese S, Bonanni L, Taylor JP, Antonini A, Valente EM, Petrucci S, Stocchi F, Thomas A, Perfetti B. Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies. Journal of Neurology. 260: 1731-42. PMID 23400498 DOI: 10.1007/S00415-013-6853-Y |
0.308 |
|
| 2013 |
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, ... ... Valente EM, et al. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics : Ejhg. 21: 1074-8. PMID 23386033 DOI: 10.1038/Ejhg.2012.305 |
0.678 |
|
| 2013 |
Quattrocchi CC, Zanni G, Napolitano A, Longo D, Cordelli DM, Barresi S, Randisi F, Valente EM, Verdolotti T, Genovese E, Specchio N, Vitiello G, Spiegel R, Bertini E, Bernardi B. Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. Neurogenetics. 14: 77-83. PMID 23274687 DOI: 10.1007/S10048-012-0352-7 |
0.408 |
|
| 2013 |
Sheerin UM, Stamelou M, Charlesworth G, Shiner T, Spacey S, Valente EM, Wood NW, Bhatia KP. Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation Journal of Neurology. 260: 656-660. PMID 23180180 DOI: 10.1007/S00415-012-6747-4 |
0.474 |
|
| 2013 |
Stefani A, Marzetti F, Pierantozzi M, Petrucci S, Olivola E, Galati S, Bassi MS, Imbriani P, Valente EM, Pastore FS. Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease Neurological Sciences. 34: 383-386. PMID 22437494 DOI: 10.1007/S10072-012-1014-0 |
0.315 |
|
| 2013 |
Poretti A, Rostásy K, Wei X, Fauth C, Koch J, Hader W, Valente E, Huisman T, Boltshauser E. Tectocerebellar dysraphism with occipital encephalocele is part of the Joubert syndrome spectrum Neuropediatrics. 44. DOI: 10.1055/S-0033-1337862 |
0.317 |
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| 2012 |
Lenzi P, Marongiu R, Falleni A, Gelmetti V, Busceti CL, Michiorri S, Valente EM, Fornai F. A subcellular analysis of genetic modulation of PINK1 on mitochondrial alterations, autophagy and cell death. Archives Italiennes De Biologie. 150: 194-217. PMID 23165879 DOI: 10.4449/Aib.V150I2/3.1417 |
0.736 |
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| 2012 |
Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, Valente EM, Silveira-Moriyama L, Teive HA, Raskin S, Sander JW, et al. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology. 79: 2115-21. PMID 23077024 DOI: 10.1212/Wnl.0B013E3182752C5A |
0.496 |
|
| 2012 |
Mory A, Dagan E, Illi B, Duquesnoy P, Mordechai S, Shahor I, Romani S, Hawash-Moustafa N, Mandel H, Valente EM, Amselem S, Gershoni-Baruch R. A nonsense mutation in the human homolog of drosophila rogdi causes Kohlschutter-Tonz syndrome American Journal of Human Genetics. 90: 708-714. PMID 22482807 DOI: 10.1016/J.Ajhg.2012.03.005 |
0.439 |
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| 2012 |
Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, ... ... Valente EM, et al. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (New York, N.Y.). 335: 966-9. PMID 22282472 DOI: 10.1126/Science.1213506 |
0.542 |
|
| 2012 |
Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, ... ... Valente EM, et al. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics. 44: 193-9. PMID 22246503 DOI: 10.1038/Ng.1078 |
0.633 |
|
| 2012 |
Del Sorbo F, Brancati F, De Joanna G, Valente EM, Lauria G, Albanese A. Primary focal hyperhidrosis in a new family not linked to known loci Dermatology. 223: 335-342. PMID 22237135 DOI: 10.1159/000334936 |
0.378 |
|
| 2012 |
Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, ... ... Valente EM, et al. Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet Journal of Rare Diseases. 7: 4. PMID 22236771 DOI: 10.1186/1750-1172-7-4 |
0.417 |
|
| 2012 |
Valente EM, Arena G, Torosantucci L, Gelmetti V. Molecular pathways in sporadic PD Parkinsonism and Related Disorders. 18. PMID 22166460 DOI: 10.1016/S1353-8020(11)70023-2 |
0.415 |
|
| 2012 |
Terracciano A, Renaldo F, Zanni G, D'Amico A, Pastore A, Barresi S, Valente EM, Piemonte F, Tozzi G, Carrozzo R, Valeriani M, Boldrini R, Mercuri E, Santorelli FM, Bertini E. The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children European Journal of Paediatric Neurology. 16: 248-256. PMID 21873089 DOI: 10.1016/J.Ejpn.2011.07.016 |
0.405 |
|
| 2012 |
Lenzi P, Falleni A, Marongiu R, Valente EM, Ricciardi MP, Ruggieri S, Frati L, Paparelli A. Genetic modulation of PINK1 differentially affects mitophagy compared with autophagy disclosing common mechanisms of genetic and environmental parkinsonism Italian Journal of Anatomy and Embryology. 117: 97-97. DOI: 10.13128/Ijae-12029 |
0.755 |
|
| 2012 |
Mori RD, Illi B, Romani S, Valente S, Johnson C, Mai A, Valente E. The ciliary protein Meckelin/TMEM67 interacts with HDAC6: possible implications for primary cilia stability Cilia. 1: 20. DOI: 10.1186/2046-2530-1-S1-P20 |
0.34 |
|
| 2011 |
Chartier-Harlin MC, Dachsel JC, Vilariño-Güell C, Lincoln SJ, Leprêtre F, Hulihan MM, Kachergus J, Milnerwood AJ, Tapia L, Song MS, Le Rhun E, Mutez E, Larvor L, Duflot A, Vanbesien-Mailliot C, ... ... Valente EM, et al. Translation initiator EIF4G1 mutations in familial Parkinson disease. American Journal of Human Genetics. 89: 398-406. PMID 21907011 DOI: 10.1016/J.Ajhg.2011.08.009 |
0.363 |
|
| 2011 |
Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, ... ... Valente EM, et al. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. The Lancet. Neurology. 10: 898-908. PMID 21885347 DOI: 10.1016/S1474-4422(11)70175-2 |
0.403 |
|
| 2011 |
Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion Neurogenetics. 12: 241-245. PMID 21484435 DOI: 10.1007/S10048-011-0283-8 |
0.312 |
|
| 2011 |
Valente EM, Brancati F, Boltshauser E, Dallapiccola B. Clinical utility gene card for: Joubert syndrome. European Journal of Human Genetics : Ejhg. 19. PMID 21448235 DOI: 10.1038/Ejhg.2011.49 |
0.508 |
|
| 2011 |
Lo HP, Bertini E, Mirabella M, Domazetovska A, Dale RC, Petrini S, D'Amico A, Valente EM, Barresi R, Roberts M, Tozzi G, Tasca G, Cooper ST, Straub V, North KN. Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. Neuromuscular Disorders : Nmd. 21: 194-203. PMID 21295981 DOI: 10.1016/J.Nmd.2010.11.015 |
0.327 |
|
| 2011 |
Modoni A, D'Amico A, Dallapiccola B, Mereu ML, Merlini L, Pagliarani S, Pisaneschi E, Silvestri G, Torrente I, Valente EM, Lo Monaco M. Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita. Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society. 28: 39-44. PMID 21221019 DOI: 10.1097/Wnp.0B013E31820510D7 |
0.383 |
|
| 2011 |
Settimini L, Lenzi P, Falleni A, Valente EM, Fornai F, Paparelli A. Morphological analysis of genetic modulation of PINK1 on mitochondrial alterations, autophagy and cell death Italian Journal of Anatomy and Embryology. 116: 172-172. DOI: 10.13128/Ijae-10251 |
0.339 |
|
| 2011 |
Valente EM, Albanese A. "Gluing" phenotypes together: The case of GLUT1 Neurology. 77: 934-935. DOI: 10.1212/Wnl.0B013E31822Cfcf6 |
0.448 |
|
| 2010 |
Valente EM, Albanese A. Advances in the genetics of primary torsion dystonia. F1000 Biology Reports. 2. PMID 20948792 DOI: 10.3410/B2-41 |
0.377 |
|
| 2010 |
Valente EM, Albanese A. Advances in the genetics of primary torsion dystonia. F1000 Biology Reports. 2. PMID 20948792 DOI: 10.3410/B2-41 |
0.377 |
|
| 2010 |
Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet Journal of Rare Diseases. 5: 20. PMID 20615230 DOI: 10.1186/1750-1172-5-20 |
0.339 |
|
| 2010 |
Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet Journal of Rare Diseases. 5: 20. PMID 20615230 DOI: 10.1186/1750-1172-5-20 |
0.339 |
|
| 2010 |
Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics. 42: 619-25. PMID 20512146 DOI: 10.1038/Ng.594 |
0.657 |
|
| 2010 |
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, ... ... Valente EM, et al. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Human Mutation. 31: E1319-31. PMID 20232449 DOI: 10.1002/Humu.21239 |
0.662 |
|
| 2010 |
Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, ... ... Valente EM, et al. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nature Genetics. 42: 175-80. PMID 20081859 DOI: 10.1038/Ng.519 |
0.548 |
|
| 2010 |
Michiorri S, Gelmetti V, Giarda E, Lombardi F, Romano F, Marongiu R, Nerini-Molteni S, Sale P, Vago R, Arena G, Torosantucci L, Cassina L, Russo MA, Dallapiccola B, Valente EM, et al. The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. Cell Death and Differentiation. 17: 962-74. PMID 20057503 DOI: 10.1038/Cdd.2009.200 |
0.753 |
|
| 2010 |
Walter M, Bonin M, Pullman RS, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, et al. Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia Neurobiology of Disease. 38: 192-200. PMID 20053375 DOI: 10.1016/J.Nbd.2009.12.019 |
0.491 |
|
| 2010 |
Sturm V, Leiba H, Menke MN, Valente EM, Poretti A, Landau K, Boltshauser E. Ophthalmological findings in Joubert syndrome. Eye (London, England). 24: 222-5. PMID 19461662 DOI: 10.1038/Eye.2009.116 |
0.372 |
|
| 2009 |
Poretti A, Dietrich Alber F, Brancati F, Dallapiccola B, Valente EM, Boltshauser E. Normal cognitive functions in Joubert syndrome Neuropediatrics. 40: 287-290. PMID 20446224 DOI: 10.1055/S-0030-1249630 |
0.333 |
|
| 2009 |
Bonetti M, Barzaghi C, Brancati F, Ferraris A, Bellacchio E, Giovanetti A, Ialongo T, Zorzi G, Piano C, Petracca M, Albanese A, Nardocci N, Dallapiccola B, Bentivoglio AR, Garavaglia B, ... Valente EM, et al. Mutation screening of the DYT6/THAP1 gene in Italy. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 2424-7. PMID 19908325 DOI: 10.1002/Mds.22861 |
0.456 |
|
| 2009 |
Ferraris A, Ialongo T, Passali GC, Pellecchia MT, Brusa L, Laruffa M, Guidubaldi A, Paludetti G, Albanese A, Barone P, Dallapiccola B, Valente EM, Bentivoglio AR. Olfactory dysfunction in Parkinsonism caused by PINK1 mutations. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 2350-7. PMID 19890973 DOI: 10.1002/Mds.22816 |
0.35 |
|
| 2009 |
Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, ... ... Valente EM, et al. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Human Mutation. 30: 1574-82. PMID 19777577 DOI: 10.1002/Humu.21116 |
0.519 |
|
| 2009 |
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, ... Valente EM, et al. Expanding CEP290 mutational spectrum in ciliopathies. American Journal of Medical Genetics. Part A. 149: 2173-80. PMID 19764032 DOI: 10.1002/Ajmg.A.33025 |
0.659 |
|
| 2009 |
Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, ... ... Valente EM, et al. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nature Genetics. 41: 1032-6. PMID 19668216 DOI: 10.1038/Ng.423 |
0.606 |
|
| 2009 |
Bonetti M, Ferraris A, Petracca M, Bentivoglio AR, Dallapiccola B, Valente EM. GIGYF2 variants are not associated with Parkinson's disease in Italy. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 1867-8; author reply. PMID 19562763 DOI: 10.1002/Mds.22640 |
0.312 |
|
| 2009 |
Giordano L, Vignoli A, Pinelli L, Brancati F, Accorsi P, Faravelli F, Gasparotti R, Granata T, Giaccone G, Inverardi F, Frassoni C, Dallapiccola B, Valente EM, Spreafico R. Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. American Journal of Medical Genetics. Part A. 149: 1511-5. PMID 19533793 DOI: 10.1002/Ajmg.A.32936 |
0.508 |
|
| 2009 |
Marongiu R, Spencer B, Crews L, Adame A, Patrick C, Trejo M, Dallapiccola B, Valente EM, Masliah E. Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. Journal of Neurochemistry. 108: 1561-74. PMID 19166511 DOI: 10.1111/J.1471-4159.2009.05932.X |
0.753 |
|
| 2009 |
Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, ... ... Valente EM, et al. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Human Mutation. 30: E432-42. PMID 19058225 DOI: 10.1002/Humu.20924 |
0.647 |
|
| 2009 |
Valente EM, Michiorri S, Arena G, Gelmetti V. PINK1: One protein, multiple neuroprotective functions Future Neurology. 4: 575-590. DOI: 10.2217/Fnl.09.39 |
0.428 |
|
| 2009 |
Ferraris A, Valente EM, Bentivoglio AR. Prevalence and phenotypic spectrum of PINK1 mutations in Parkinson's disease European Neurological Review. 4: 40-43. DOI: 10.17925/Enr.2009.04.01.40 |
0.481 |
|
| 2009 |
Chartier-Harlin M, Dachsel J, Hulihan M, Kachergus J, Lepretre F, Le Rhun E, Mutez E, Lincoln S, Ross O, Vilariño-Güell C, Yanagiya A, Sonenberg N, Lockhart P, Wszolek Z, Aasly J, ... ... Valente E, et al. P2.206 EIF4G1 mutations in familial parkinsonism Parkinsonism & Related Disorders. 15: S145-S146. DOI: 10.1016/S1353-8020(09)70557-7 |
0.32 |
|
| 2008 |
Valente EM, Ferraris A, Dallapiccola B. Genetic testing for paediatric neurological disorders The Lancet Neurology. 7: 1113-1126. PMID 19007736 DOI: 10.1016/S1474-4422(08)70257-6 |
0.333 |
|
| 2008 |
Koukouni V, Valente EM, Cordivari C, Bhatia KP, Quinn NP. Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp Movement Disorders. 23: 1913-1915. PMID 18702114 DOI: 10.1002/Mds.21935 |
0.443 |
|
| 2008 |
Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, ... ... Valente EM, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. American Journal of Human Genetics. 83: 170-9. PMID 18674751 DOI: 10.1016/J.Ajhg.2008.06.023 |
0.616 |
|
| 2008 |
Fiorio M, Valente EM, Gambarin M, Bentivoglio AR, Ialongo T, Albanese A, Barone P, Pellecchia MT, Brancati F, Moretto G, Fiaschi A, Tinazzi M. Subclinical sensory abnormalities in unaffected PINK1 heterozygotes Journal of Neurology. 255: 1372-1377. PMID 18584234 DOI: 10.1007/S00415-008-0923-6 |
0.49 |
|
| 2008 |
Fiorio M, Gambarin M, Defazio G, Valente EM, Stanzani C, Moretto G, Loi M, Soliveri P, Nardocci N, Albanese A, Fiaschi A, Tinazzi M. Impaired body movement representation in DYT1 mutation carriers Clinical Neurophysiology. 119: 1864-1869. PMID 18571468 DOI: 10.1016/J.Clinph.2008.04.292 |
0.403 |
|
| 2008 |
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, Dallapiccola B, Gleeson JG, Valente EM. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clinical Genetics. 74: 164-70. PMID 18565097 DOI: 10.1111/J.1399-0004.2008.01047.X |
0.656 |
|
| 2008 |
Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, ... ... Valente EM, et al. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Human Mutation. 29: 959-65. PMID 18446851 DOI: 10.1002/Humu.20746 |
0.467 |
|
| 2008 |
Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, ... ... Valente EM, et al. PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Human Mutation. 29: 565. PMID 18330912 DOI: 10.1002/Humu.20719 |
0.787 |
|
| 2008 |
Gelmetti V, Ferraris A, Brusa L, Romano F, Lombardi F, Barzaghi C, Stanzione P, Garavaglia B, Dallapiccola B, Valente EM. Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 881-5. PMID 18307263 DOI: 10.1002/Mds.21960 |
0.477 |
|
| 2008 |
Valente EM, Brancati F, Dallapiccola B. Genotypes and phenotypes of Joubert syndrome and related disorders European Journal of Medical Genetics. 51: 1-23. PMID 18164675 DOI: 10.1016/J.Ejmg.2007.11.003 |
0.428 |
|
| 2007 |
Scarciolla O, Brancati F, Valente EM, Ferraris A, De Angelis MV, Valbonesi S, Garavaglia B, Uncini A, Palka G, Stuppia L, Dallapiccola B. Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements Movement Disorders. 22: 2274-2278. PMID 17914726 DOI: 10.1002/Mds.21532 |
0.469 |
|
| 2007 |
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, ... ... Valente EM, et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. American Journal of Human Genetics. 81: 713-25. PMID 17846997 DOI: 10.1086/521373 |
0.52 |
|
| 2007 |
Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, Fossarello M, Signorini S, Bertone C, Galantuomo S, Brancati F, Valente EM, Ciccodicola A, Rinaldi E, Auricchio A, et al. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Investigative Ophthalmology & Visual Science. 48: 4284-90. PMID 17724218 DOI: 10.1167/Iovs.07-0068 |
0.496 |
|
| 2007 |
Valente EM, Ferraris A. Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex Lancet Neurology. 6: 576-578. PMID 17582354 DOI: 10.1016/S1474-4422(07)70158-8 |
0.464 |
|
| 2007 |
Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, ... ... Valente EM, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. American Journal of Human Genetics. 81: 104-13. PMID 17564967 DOI: 10.1086/519026 |
0.663 |
|
| 2007 |
Marongiu R, Brancati F, Antonini A, Ialongo T, Ceccarini C, Scarciolla O, Capalbo A, Benti R, Pezzoli G, Dallapiccola B, Goldwurm S, Valente EM. Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. Human Mutation. 28: 98. PMID 17154281 DOI: 10.1002/Humu.9472 |
0.798 |
|
| 2007 |
Clarimon J, Brancati F, Peckham E, Valente EM, Dallapiccola B, Abruzzese G, Girlanda P, Defazio G, Berardelli A, Hallett M, Singleton AB. Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Movement Disorders : Official Journal of the Movement Disorder Society. 22: 162-6. PMID 17133500 DOI: 10.1002/Mds.21182 |
0.347 |
|
| 2007 |
Fiorio M, Gambarin M, Valente EM, Liberini P, Loi M, Cossu G, Moretto G, Bhatia KP, Defazio G, Aglioti SM, Fiaschi A, Tinazzi M. Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? Brain : a Journal of Neurology. 130: 134-42. PMID 17105745 DOI: 10.1093/Brain/Awl283 |
0.415 |
|
| 2007 |
Valente E, Brancati F, Barrano G, Silhavy J, Marsh S, Bertini E, Boltshauser E, Dallapiccola B, Gleeson J. DMO03 CEP290 mutations are a frequent cause of Joubert syndrome with oculo-renal involvement European Journal of Paediatric Neurology. 11: 28. DOI: 10.1016/S1090-3798(08)70346-5 |
0.594 |
|
| 2006 |
Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, et al. An SCN9A channelopathy causes congenital inability to experience pain. Nature. 444: 894-8. PMID 17167479 DOI: 10.1038/Nature05413 |
0.351 |
|
| 2006 |
Caridi G, Dagnino M, Rossi A, Valente EM, Bertini E, Fazzi E, Emma F, Murer L, Verrina E, Ghiggeri GM. Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association Kidney International. 70: 1342-1347. PMID 16900087 DOI: 10.1038/Sj.Ki.5001768 |
0.367 |
|
| 2006 |
Gambarin M, Valente EM, Liberini P, Barrano G, Bonizzato A, Padovani A, Moretto G, Fiorio M, Dallapiccola B, Smania N, Fiashi A, Tinazzi M. Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia Movement Disorders. 21: 1782-1784. PMID 16874761 DOI: 10.1002/Mds.21056 |
0.436 |
|
| 2006 |
Criscuolo C, Volpe G, De Rosa A, Varrone A, Marongiu R, Mancini P, Salvatore E, Dallapiccola B, Filla A, Valente EM, De Michele G. PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 1265-7. PMID 16700027 DOI: 10.1002/Mds.20933 |
0.795 |
|
| 2006 |
Stevanin G, Montagna G, Azzedine H, Valente EM, Durr A, Scarano V, Bouslam N, Cassandrini D, Denora PS, Criscuolo C, Belarbi S, Orlacchio A, Jonveaux P, Silvestri G, Hernandez AM, et al. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics. 7: 149-56. PMID 16699786 DOI: 10.1007/S10048-006-0044-2 |
0.427 |
|
| 2006 |
Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E, et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nature Genetics. 38: 623-5. PMID 16682970 DOI: 10.1038/Ng1805 |
0.637 |
|
| 2006 |
Marongiu R, Ghezzi D, Ialongo T, Soleti F, Elia A, Cavone S, Albanese A, Altavista MC, Barone P, Brusa L, Cortelli P, Petrozzi L, Scaglione C, Stanzione P, Tinazzi M, ... ... Valente EM, et al. Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 1232-5. PMID 16622859 DOI: 10.1002/Mds.20890 |
0.774 |
|
| 2006 |
Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, et al. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Annals of Neurology. 59: 527-34. PMID 16453322 DOI: 10.1002/Ana.20749 |
0.672 |
|
| 2006 |
Defazio G, Martino D, Aniello MS, Masi G, Abbruzzese G, Lamberti S, Valente EM, Brancati F, Livrea P, Berardelli A. A family study on primary blepharospasm. Journal of Neurology, Neurosurgery, and Psychiatry. 77: 252-4. PMID 16421132 DOI: 10.1136/Jnnp.2005.068007 |
0.317 |
|
| 2005 |
Silvestri L, Caputo V, Bellacchio E, Atorino L, Dallapiccola B, Valente EM, Casari G. Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism Human Molecular Genetics. 14: 3477-3492. PMID 16207731 DOI: 10.1093/Hmg/Ddi377 |
0.438 |
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| 2005 |
Castori M, Valente EM, Clementi M, Tormene AP, Brancati F, Caputo V, Dallapiccola B. A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. Investigative Ophthalmology & Visual Science. 46: 3539-44. PMID 16186331 DOI: 10.1167/Iovs.05-0331 |
0.342 |
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| 2005 |
Pedrini E, De Luca A, Valente EM, Maini V, Capponcelli S, Mordenti M, Mingarelli R, Sangiorgi L, Dallapiccola B. Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas Human Mutation.. 26: 280. PMID 16088908 DOI: 10.1002/Humu.9359 |
0.474 |
|
| 2005 |
Albanese A, Valente EM, Romito LM, Bellacchio E, Elia AE, Dallapiccola B. The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. Neurology. 64: 1958-60. PMID 15955954 DOI: 10.1212/01.Wnl.0000163999.72864.Fd |
0.507 |
|
| 2005 |
Pellecchia MT, Valente EM, Cif L, Salvi S, Albanese A, Scarano V, Bonuccelli U, Bentivoglio AR, D'Amico A, Marelli C, Di Giorgio A, Coubes P, Barone P, Dallapiccola B. The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration Neurology. 64: 1810-1812. PMID 15911822 DOI: 10.1212/01.Wnl.0000161843.52641.Ec |
0.493 |
|
| 2005 |
Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, et al. Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Annals of Neurology. 57: 513-9. PMID 15786477 DOI: 10.1002/Ana.20422 |
0.601 |
|
| 2005 |
Valente EM, Edwards MJ, Mir P, DiGiorgio A, Salvi S, Davis M, Russo N, Bozi M, Kim HT, Pennisi G, Quinn N, Dallapiccola B, Bhatia KP. The epsilon-sarcoglycan gene in myoclonic syndromes. Neurology. 64: 737-9. PMID 15728306 DOI: 10.1212/01.Wnl.0000151979.68010.9B |
0.52 |
|
| 2005 |
Castori M, Valente EM, Donati MA, Salvi S, Fazzi E, Procopio E, Galluccio T, Emma F, Dallapiccola B, Bertini E. NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders Journal of Medical Genetics.. 42. PMID 15689444 DOI: 10.1136/Jmg.2004.027375 |
0.503 |
|
| 2005 |
Fabbrini G, Brancati F, Vacca L, Valente EM, Nemeth A, Meesaq A, Sykes N, Dallapiccola B, Berardelli A. A novel family with an unusual early-onset generalized dystonia. Movement Disorders : Official Journal of the Movement Disorder Society. 20: 81-6. PMID 15390042 DOI: 10.1002/Mds.20267 |
0.494 |
|
| 2005 |
Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, et al. Erratum: Distinguishing the four genetic causes of Jouberts syndrome-related disorders (Annals of Neurology (April 2005) 57 (513-519)) Annals of Neurology. 57. DOI: 10.1002/Ana.20535 |
0.556 |
|
| 2004 |
Whone AL, Von Spiczak S, Edwards M, Valente EM, Hammers A, Bhatia KP, Brooks DJ. Opioid binding in DYT1 primary torsion dystonia: An 11C-diprenorphine PET study Movement Disorders. 19: 1498-1503. PMID 15390064 DOI: 10.1002/Mds.20238 |
0.3 |
|
| 2004 |
Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A, Dallapiccola B, Bentivoglio AR. PINK1 mutations are associated with sporadic early-onset parkinsonism. Annals of Neurology. 56: 336-41. PMID 15349860 DOI: 10.1002/Ana.20256 |
0.802 |
|
| 2004 |
Cif L, Valente EM, Hemm S, Coubes C, Vayssiere N, Serrat S, Di Giorgio A, Coubes P. Deep brain stimulation in myoclonus-dystonia syndrome Movement Disorders. 19: 724-727. PMID 15197720 DOI: 10.1002/Mds.20030 |
0.381 |
|
| 2004 |
Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, González-Maldonado R, Deller T, Salvi S, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (New York, N.Y.). 304: 1158-60. PMID 15087508 DOI: 10.1126/Science.1096284 |
0.394 |
|
| 2004 |
Novelli A, Valente EM, Bernardini L, Ceccarini C, Sinibaldi L, Caputo V, Cavalli P, Dallapiccola B. Autosomal dominant Brody disease cosegragates with a chromosomal (2;7)(p11.2;p12.1) trranslocation in an Italian family European Journal of Human Genetics. 12: 579-583. PMID 15083169 DOI: 10.1038/Sj.Ejhg.5201200 |
0.41 |
|
| 2004 |
Brancati F, Valente EM, Sarkozy A, Fehèr J, Castori M, Del Duca P, Mingarelli R, Pizzuti A, Dallapiccola B. A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 Journal of Medical Genetics. 41: 188-192. PMID 14985379 DOI: 10.1136/Jmg.2003.012872 |
0.425 |
|
| 2004 |
Bentivoglio AR, Ialongo T, Contarino MF, Valente EM, Albanese A. Phenotypic characterization of DYT13 primary torsion dystonia. Movement Disorders : Official Journal of the Movement Disorder Society. 19: 200-6. PMID 14978677 DOI: 10.1002/Mds.10634 |
0.383 |
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| 2004 |
Casali C, Valente EM, Bertini E, Montagna G, Criscuolo C, De Michele G, Villanova M, Damiano M, Pierallini A, Brancati F, Scarano V, Tessa A, Cricchi F, Grieco GS, Muglia M, et al. Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology. 62: 262-8. PMID 14745065 DOI: 10.1212/Wnl.62.2.262 |
0.357 |
|
| 2004 |
Healy DG, Abou-Sleiman PM, Valente EM, Gilks WP, Bhatia K, Quinn N, Lees AJ, Wood NW. DJ-1 mutations in Parkinson's disease Journal of Neurology, Neurosurgery and Psychiatry. 75: 144-145. PMID 14707326 |
0.426 |
|
| 2003 |
Brancati F, Valente EM, Tadini G, Caputo V, Di Benedetto A, Gelmetti C, Dallapiccola B. Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 Journal of Medical Genetics. 40: 849-853. PMID 14627680 DOI: 10.1136/Jmg.40.11.849 |
0.348 |
|
| 2003 |
Valente EM, Misbahuddin A, Brancati F, Placzek MR, Garavaglia B, Salvi S, Nemeth A, Shaw-Smith C, Nardocci N, Bentivoglio AR, Berardelli A, Eleopra R, Dallapiccola B, Warner TT. Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 1047-51. PMID 14502674 DOI: 10.1002/Mds.10476 |
0.438 |
|
| 2003 |
Brancati F, Valente EM, Davies NP, Sarkozy A, Sweeney MG, LoMonaco M, Pizzuti A, Hanna MG, Dallapiccola B. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: Broadening the clinical spectrum associated with the T704M mutation in SCN4A Journal of Neurology, Neurosurgery and Psychiatry. 74: 1339-1341. PMID 12933953 DOI: 10.1136/Jnnp.74.9.1339 |
0.445 |
|
| 2003 |
Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T, Tortorella G, Briuglia S, Dallapiccola B. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation American Journal of Human Genetics. 73: 663-670. PMID 12908130 DOI: 10.1086/378241 |
0.384 |
|
| 2003 |
Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, Di Capua M, Valente EM, Attia-Sobol J, Plauchu H, Leuzzi V, Ponzone A, Boespflug-Tanguy O, Bertini E. Infantile ascending hereditary spastic paralysis (IAHSP): Clinical features in 11 families Neurology. 60: 674-682. PMID 12601111 DOI: 10.1212/01.Wnl.0000048207.28790.25 |
0.452 |
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| 2003 |
Defazio G, Brancati F, Valente EM, Caputo V, Pizzuti A, Martino D, Abbruzzese G, Livrea P, Berardelli A, Dallapiccola B. Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 207-12. PMID 12539217 DOI: 10.1002/Mds.10314 |
0.381 |
|
| 2002 |
Valente EM, Brancati F, Caputo V, Graham EA, Davis MB, Ferraris A, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Filla A, Meco G, et al. PARK6 is a common cause of familial parkinsonism. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 23: S117-8. PMID 12548371 DOI: 10.1007/S100720200097 |
0.389 |
|
| 2002 |
Khan NL, Valente EM, Bentivoglio AR, Wood NW, Albanese A, Brooks DJ, Piccini P. Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: An 18F-dopa PET study Annals of Neurology. 52: 849-853. PMID 12447943 DOI: 10.1002/Ana.10417 |
0.353 |
|
| 2002 |
Bentivoglio AR, Loi M, Valente EM, Ialongo T, Tonali P, Albanese A. Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia? Movement Disorders : Official Journal of the Movement Disorder Society. 17: 1058-63. PMID 12360559 DOI: 10.1002/Mds.10236 |
0.462 |
|
| 2002 |
Valente EM, Brancati F, Caputo V, Bertini E, Patrono C, Costanti D, Dallapiccola B. Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34 Annals of Neurology. 51: 681-685. PMID 12112072 DOI: 10.1002/Ana.10204 |
0.322 |
|
| 2002 |
Brancati F, Defazio G, Caputo V, Valente EM, Pizzuti A, Livrea P, Berardelli A, Dallapiccola B. Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. Movement Disorders : Official Journal of the Movement Disorder Society. 17: 392-7. PMID 11921130 DOI: 10.1002/Mds.10077 |
0.392 |
|
| 2002 |
Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, et al. PARK6-linked parkinsonism occurs in several European families. Annals of Neurology. 51: 14-8. PMID 11782979 DOI: 10.1002/Ana.10053 |
0.415 |
|
| 2001 |
Bentivoglio AR, Cortelli P, Valente EM, Ialongo T, Ferraris A, Elia A, Montagna P, Albanese A. Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families Movement Disorders. 16: 999-1006. PMID 11748730 DOI: 10.1002/Mds.10034 |
0.381 |
|
| 2001 |
Valente EM, Bentivoglio AR, Cassetta E, Dixon PH, Davis MB, Ferraris A, Ialongo T, Frontali M, Wood NW, Albanese A. Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 22: 95-6. PMID 11487218 DOI: 10.1007/S100720170063 |
0.373 |
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| 2001 |
Valente EM, Bentivoglio AR, Cassetta E, Dixon PH, Davis MB, Ferraris A, Ialongo T, Frontali M, Wood NW, Albanese A. DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset. Annals of Neurology. 49: 362-6. PMID 11261511 DOI: 10.1002/Ana.73 |
0.359 |
|
| 2001 |
Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Lalongo T, Frontali M, Albanese A, Wood NW. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36 American Journal of Human Genetics. 68: 895-900. PMID 11254447 DOI: 10.1086/319522 |
0.472 |
|
| 2000 |
Valente EM, Spacey SD, Wali GM, Bhatia KP, Dixon PH, Wood NW, Davis MB. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain : a Journal of Neurology. 123: 2040-5. PMID 11004121 DOI: 10.1093/Brain/123.10.2040 |
0.335 |
|
| 2000 |
Münchau A, Valente EM, Shahidi GA, Eunson LH, Hanna MG, Quinn NP, Schapira AHV, Wood NW, Bhatia KP. A new family with paroxysmal exercise induced dystonia and migraine: A clinical and genetic study Journal of Neurology Neurosurgery and Psychiatry. 68: 609-614. PMID 10766892 DOI: 10.1136/Jnnp.68.5.609 |
0.387 |
|
| 2000 |
Albanese A, Bentivoglio AR, Del Grosso N, Cassetta E, Frontali M, Valente EM, Tonali P. Phenotype variability of dystonia in monozygotic twins Journal of Neurology. 247: 148-150. PMID 10751123 DOI: 10.1007/S004150050035 |
0.345 |
|
| 1999 |
Valente EM, Povey S, Warner TT, Wood NW, Davis MB. Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations. Annals of Human Genetics. 63: 1-8. PMID 10738516 DOI: 10.1046/J.1469-1809.1999.6310001.X |
0.458 |
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| 1999 |
Cassetta E, Del Grosso N, Bentivoglio AR, Valente EM, Frontali M, Albanese A. Italian family with cranial cervical dystonia: Clinical and genetic study Movement Disorders. 14: 820-825. PMID 10495044 DOI: 10.1002/1531-8257(199909)14:5<820::Aid-Mds1015>3.0.Co;2-I |
0.348 |
|
| 1999 |
Jarman PR, del Grosso N, Valente EM, Leube B, Cassetta E, Bentivoglio AR, Waddy HM, Uitti RJ, Maraganore DM, Albanese A, Frontali M, Auburger G, Bressman SB, Wood NW, Nygaard TG. Primary torsion dystonia: the search for genes is not over. Journal of Neurology, Neurosurgery, and Psychiatry. 67: 395-7. PMID 10449567 DOI: 10.1136/Jnnp.67.3.395 |
0.382 |
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| 1998 |
Valente EM, Warner TT, Jarman PR, Mathen D, Fletcher NA, Marsden CD, Bhatia KP, Wood NW. The role of DYT1 in primary torsion dystonia in Europe. Brain : a Journal of Neurology. 121: 2335-9. PMID 9874484 DOI: 10.1093/Brain/121.12.2335 |
0.462 |
|
| 1998 |
Bandmann O, Valente EM, Holmans P, Surtees RAH, Walters JH, Wevers RA, Marsden CD, Wood NW. Dopa-responsive dystonia: A clinical and molecular genetic study Annals of Neurology. 44: 649-656. PMID 9778264 DOI: 10.1002/Ana.410440411 |
0.502 |
|
| 1998 |
Valente EM, Bentivoglio AR, Albanese A. The genetic basis of movement disorders Schweizer Archiv Fur Neurologie Und Psychiatrie. 149: 157-162. |
0.331 |
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