| Year |
Citation |
Score |
| 2023 |
Ermanoska B, Asselbergh B, Morant L, Petrovic-Erfurth ML, Hosseinibarkooie S, Leitão-Gonçalves R, Almeida-Souza L, Bervoets S, Sun L, Lee L, Atkinson D, Khanghahi A, Tournev I, Callaerts P, Verstreken P, ... ... Jordanova A, et al. Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling. Nature Communications. 14: 999. PMID 36890170 DOI: 10.1038/s41467-023-35908-3 |
0.759 |
|
| 2022 |
Malcorps M, Amor-Barris S, Burnyte B, Vilimiene R, Armirola-Ricaurte C, Grigalioniene K, Ekshteyn A, Morkuniene A, Vaitkevicius A, De Vriendt E, Baets J, Scherer SS, Ambrozaityte L, Utkus A, Jordanova A, et al. HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling. Orphanet Journal of Rare Diseases. 17: 374. PMID 36242072 DOI: 10.1186/s13023-022-02541-0 |
0.477 |
|
| 2022 |
Perić S, Marković V, Candayan A, De Vriendt E, Momčilović N, Savić A, Dragašević-Mišković N, Svetel M, Stević Z, Božović I, Mesaroš Š, Drulović J, Basta I, Petrović I, Tamaš O, ... ... Jordanova A, et al. Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia. Cells. 11. PMID 36139378 DOI: 10.3390/cells11182804 |
0.493 |
|
| 2022 |
Kurolap A, Kreuder F, Gonzaga-Jauregui C, Duvdevani MP, Harel T, Tammer L, Xin B, Bakhtiari S, Rice J, van Eyk CL, Gecz J, Mah JK, Atkinson D, Cope H, Sullivan JA, ... ... Jordanova A, et al. Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity. American Journal of Human Genetics. PMID 35108495 DOI: 10.1016/j.ajhg.2022.01.004 |
0.319 |
|
| 2021 |
de Aguiar Coelho Silva Madeiro B, Peeters K, Santos de Lima EL, Amor-Barris S, De Vriendt E, Jordanova A, Cartaxo Muniz MT, da Cunha Correia C. HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report. Molecular Genetics & Genomic Medicine. 9: e1783. PMID 34562060 DOI: 10.1002/mgg3.1783 |
0.461 |
|
| 2021 |
Candayan A, Çakar A, Yunisova G, Özdağ Acarlı AN, Atkinson D, Topaloğlu P, Durmuş H, Yapıcı Z, Jordanova A, Parman Y, Battaloğlu E. Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort. Neurology. Genetics. 7: e621. PMID 34476298 DOI: 10.1212/NXG.0000000000000621 |
0.353 |
|
| 2021 |
Amor-Barris S, Høyer H, Brauteset LV, De Vriendt E, Strand L, Jordanova A, Braathen GJ, Peeters K. HINT1 neuropathy in Norway: clinical, genetic and functional profiling. Orphanet Journal of Rare Diseases. 16: 116. PMID 33663550 DOI: 10.1186/s13023-021-01746-z |
0.309 |
|
| 2021 |
Palaima P, Berciano J, Peeters K, Jordanova A. LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond. Orphanet Journal of Rare Diseases. 16: 74. PMID 33568173 DOI: 10.1186/s13023-020-01654-8 |
0.525 |
|
| 2019 |
Bervoets S, Wei N, Erfurth ML, Yusein-Myashkova S, Ermanoska B, Mateiu L, Asselbergh B, Blocquel D, Kakad P, Penserga T, Thomas FP, Guergueltcheva V, Tournev I, Godenschwege T, Jordanova A, et al. Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy. Nature Communications. 10: 5045. PMID 31695036 DOI: 10.1038/S41467-019-12909-9 |
0.443 |
|
| 2019 |
Palaima P, Chamova T, Jander S, Mitev V, Van Broeckhoven C, Tournev I, Peeters K, Jordanova A. Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy. Orphanet Journal of Rare Diseases. 14: 197. PMID 31412900 DOI: 10.1186/S13023-019-1162-X |
0.545 |
|
| 2019 |
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, ... ... Jordanova A, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. 104: 1251. PMID 31173719 DOI: 10.1016/j.ajhg.2019.05.009 |
0.535 |
|
| 2019 |
Previtali SC, Zhao E, Lazarevic D, Pipitone GB, Fabrizi GM, Manganelli F, Mazzeo A, Pareyson D, Schenone A, Taroni F, Vita G, Bellone E, Ferrarini M, Garibaldi M, Magri S, ... ... Jordanova A, et al. Expanding the spectrum of genes responsible for hereditary motor neuropathies. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 31167812 DOI: 10.1136/Jnnp-2019-320717 |
0.519 |
|
| 2019 |
Tey S, Shahrizaila N, Drew AP, Samulong S, Goh KJ, Battaloglu E, Atkinson D, Parman Y, Jordanova A, Chung KW, Choi BO, Li YC, Auer-Grumbach M, Nicholson GA, Kennerson ML, et al. Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family. Neurogenetics. PMID 31011849 DOI: 10.1007/S10048-019-00576-3 |
0.516 |
|
| 2019 |
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi M, ... ... Jordanova A, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. PMID 30929741 DOI: 10.1016/J.Ajhg.2019.03.001 |
0.562 |
|
| 2019 |
Peric S, Markovic V, Vriendt ED, Estrada-Cuzcano A, Svetel M, Stojanovic VR, Dragasevic-Miskovic N, Stevic Z, Bozovic I, Mijajlovic M, Mesaros S, Drulovic J, Novakovic I, Kostic VS, Jordanova A. phenotypic and genetic heterogeneity of adult patients with hereditary spastic paraplegia from Serbia Journal of the Neurological Sciences. 405: 59-60. DOI: 10.1016/J.Jns.2019.10.329 |
0.397 |
|
| 2018 |
Gondim FAA, Filha JGH, Jordanova A. Transthyretin familial amyloid polyneuropathy due to lle107Val mutation mimicking atypical chronic inflammatory demyelinating polyneuropathy: case report. Acta Neurologica Belgica. PMID 30560419 DOI: 10.1007/S13760-018-01069-0 |
0.436 |
|
| 2018 |
Inzelberg R, Estrada-Cuzcano A, Laitman Y, De Vriendt E, Friedman E, Jordanova A. Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation. Journal of Parkinson's Disease. PMID 29966207 DOI: 10.3233/Jpd-181360 |
0.568 |
|
| 2018 |
Ivanov I, Atkinson D, Litvinenko I, Angelova L, Andonova S, Mumdjiev H, Pacheva I, Panova M, Yordanova R, Belovejdov V, Petrova A, Bosheva M, Shmilev T, Savov A, Jordanova A. Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 29656927 DOI: 10.1016/J.Ejpn.2018.03.011 |
0.551 |
|
| 2017 |
Ivanova N, Peycheva V, Kamenarova K, Kancheva D, Tsekova I, Aleksandrova I, Hristova D, Litvinenko I, Todorova D, Sarailieva G, Dimova P, Tomov V, Bozhinova V, Mitev V, Kaneva R, ... Jordanova A, et al. Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome. Seizure. 54: 41-44. PMID 29223885 DOI: 10.1016/J.Seizure.2017.11.014 |
0.521 |
|
| 2017 |
Rossi D, Palmio J, Evilä A, Galli L, Barone V, Caldwell TA, Policke RA, Aldkheil E, Berndsen CE, Wright NT, Malfatti E, Brochier G, Pierantozzi E, Jordanova A, Guergueltcheva V, et al. A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy. Plos One. 12: e0186642. PMID 29073160 DOI: 10.1016/J.Bpj.2017.11.770 |
0.502 |
|
| 2017 |
Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, ... ... Jordanova A, et al. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain : a Journal of Neurology. PMID 28633435 DOI: 10.1093/Brain/Awx138 |
0.503 |
|
| 2017 |
Blocquel D, Li S, Wei N, Daub H, Sajish M, Erfurth ML, Kooi G, Zhou J, Bai G, Schimmel P, Jordanova A, Yang XL. Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy. Nucleic Acids Research. PMID 28531329 DOI: 10.1093/Nar/Gkx455 |
0.531 |
|
| 2017 |
Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, Gazulla J, Martínez-Tames M, Infante J, Jordanova A. Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. Journal of Neurology. PMID 28364294 DOI: 10.1007/S00415-017-8474-3 |
0.482 |
|
| 2017 |
Demirsoy S, Martin S, Motamedi S, van Veen S, Holemans T, Van den Haute C, Jordanova A, Baekelandt V, Vangheluwe P, Agostinis P. ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function. Human Molecular Genetics. PMID 28334751 DOI: 10.1093/Hmg/Ddx070 |
0.458 |
|
| 2017 |
Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timmann D, Holemans T, Andreeva A, Reichbauer J, De Rycke R, Chang DI, van Veen S, Samuel J, Schöls L, Pöppel T, Mollerup Sørensen D, ... ... Jordanova A, et al. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain : a Journal of Neurology. 140: 287-305. PMID 28137957 DOI: 10.1093/brain/aww307 |
0.531 |
|
| 2017 |
Atkinson D, Nikodinovic Glumac J, Asselbergh B, Ermanoska B, Blocquel D, Steiner R, Estrada-Cuzcano A, Peeters K, Ooms T, De Vriendt E, Yang XL, Hornemann T, Milic Rasic V, Jordanova A. Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy. Neurology. PMID 28077491 DOI: 10.1212/Wnl.0000000000003595 |
0.461 |
|
| 2017 |
Peeters K, Chamova T, Tournev I, Jordanova A. Axonal neuropathy with neuromyotonia: there is a HINT. Brain : a Journal of Neurology. 140: 868-877. PMID 28007994 DOI: 10.1093/Brain/Aww301 |
0.526 |
|
| 2017 |
Chamova T, Estrada-Cuzcano A, Martin S, Holemans T, Andreeva A, Rycke RD, Chang DI, Veen Sv, Samuel J, Sørensen DM, Asselbergh B, Zuchner S, Jordanova A, Vangheluwe P, Tournev I. Novel form of complicated hereditary spastic paraplegia (SPG78), due to mutations in the ATP13A2/PARK9 gene Journal of the Neurological Sciences. 381: 379-380. DOI: 10.1016/J.Jns.2017.08.3286 |
0.571 |
|
| 2017 |
Ivanov I, Jordanova A, Litvinenko I, Angelova L, Mumdjiev H, Pacheva I, Panova M, Yordanova R, Atkinson D, Belovejdov V, Andonova S, Bosheva M, Shmilev T, Savov A. Phenotype of c.92G >C (p.G31A) mutation in the EXOSC3 gene – 14 new cases and comparison with other causes of pontocerebellar hypoplasia type 1 European Journal of Paediatric Neurology. 21. DOI: 10.1016/J.Ejpn.2017.04.848 |
0.452 |
|
| 2016 |
van der Zee J, Gijselinck I, Van Mossevelde S, Perrone F, Dillen L, Heeman B, Bäumer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-García R, Clarimón J, Lleó A, Diehl-Schmid J, ... ... Jordanova A, et al. TBK1 Mutation Spectrum in an Extended European Patient Cohort With Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Human Mutation. PMID 28008748 DOI: 10.1002/Humu.23161 |
0.597 |
|
| 2016 |
Peeters K, Palaima P, Pelayo-Negro AL, García A, Gallardo E, García-Barredo R, Mateiu L, Baets J, Menten B, De Vriendt E, De Jonghe P, Timmerman V, Infante J, Berciano J, Jordanova A. Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1. Annals of Neurology. PMID 27686364 DOI: 10.1002/Ana.24775 |
0.656 |
|
| 2016 |
Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, et al. Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. Molecular Genetics and Metabolism. PMID 27477828 DOI: 10.1016/J.Ymgme.2016.07.008 |
0.612 |
|
| 2016 |
Bais P, Beebe K, Morelli KH, Currie ME, Norberg SN, Evsikov AV, Miers KE, Seburn KL, Guergueltcheva V, Kremensky I, Jordanova A, Bult CJ, Burgess RW. Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions. Biology Open. PMID 27288508 DOI: 10.1242/Bio.019273 |
0.51 |
|
| 2016 |
Motley WW, Palaima P, Yum SW, Gonzalez MA, Tao F, Wanschitz JV, Strickland AV, Löscher WN, De Vriendt E, Koppi S, Medne L, Janecke AR, Jordanova A, Zuchner S, Scherer SS. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Brain : a Journal of Neurology. PMID 27009151 DOI: 10.1093/Brain/Aww055 |
0.626 |
|
| 2016 |
Thomas FP, Guergueltcheva V, Gondim FA, Tournev I, Rao CV, Ishpekova B, Kinsella LJ, Pan Y, Geller TJ, Litvinenko I, De Jonghe P, Scherer SS, Jordanova A. Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy. Journal of Neurology. PMID 26725087 DOI: 10.1007/S00415-015-7989-8 |
0.463 |
|
| 2016 |
Kancheva D, Atkinson D, De Rijk P, Zimon M, Chamova T, Mitev V, Yaramis A, Maria Fabrizi G, Topaloglu H, Tournev I, Parma Y, Battaloglu E, Estrada-Cuzcano A, Jordanova A. Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 18: 600-7. PMID 26492578 DOI: 10.1038/Gim.2015.139 |
0.386 |
|
| 2016 |
Peycheva V, Ivanova N, Kamenarova K, Tsekova I, Aleksandrova I, Bozhinova V, Bozhidarova M, Litvinenko I, Hristova D, Mitev V, Kaneva R, Jordanova A. Impact of KCNQ2 mutations in Bulgarian patients with electroclinical syndromes with onset in the first year of life Biotechnology & Biotechnological Equipment. 31: 138-142. DOI: 10.1080/13102818.2016.1259017 |
0.373 |
|
| 2015 |
Berciano J, Peeters K, García A, López-Alburquerque T, Gallardo E, Hernández-Fabián A, Pelayo-Negro AL, De Vriendt E, Infante J, Jordanova A. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. Journal of Neurology. PMID 26645395 DOI: 10.1007/S00415-015-7985-Z |
0.536 |
|
| 2015 |
He W, Bai G, Zhou H, Wei N, White NM, Lauer J, Liu H, Shi Y, Dumitru CD, Lettieri K, Shubayev V, Jordanova A, Guergueltcheva V, Griffin PR, Burgess RW, et al. CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase. Nature. 526: 710-4. PMID 26503042 DOI: 10.1038/Nature15510 |
0.532 |
|
| 2015 |
Chamova T, Kancheva D, Guergueltcheva V, Mitev V, Azmanov DN, Kalaydjieva L, Jordanova A, Tournev I. Reply: Mutations in TUBB4A and spastic paraplegia. Movement Disorders : Official Journal of the Movement Disorder Society. 30: 1858-9. PMID 26477690 DOI: 10.1002/Mds.26442 |
0.588 |
|
| 2015 |
Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzales MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, et al. Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy. Brain : a Journal of Neurology. PMID 26063657 DOI: 10.1093/brain/awv160 |
0.397 |
|
| 2015 |
Motley WW, Griffin LB, Mademan I, Baets J, De Vriendt E, De Jonghe P, Antonellis A, Jordanova A, Scherer SS. A novel AARS mutation in a family with dominant myeloneuropathy. Neurology. 84: 2040-7. PMID 25904691 DOI: 10.1212/Wnl.0000000000001583 |
0.512 |
|
| 2015 |
Berciano J, García A, Peeters K, Gallardo E, De Vriendt E, Pelayo-Negro AL, Infante J, Jordanova A. NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. Journal of Neurology. 262: 1289-300. PMID 25877835 DOI: 10.1007/s00415-015-7709-4 |
0.427 |
|
| 2015 |
Kancheva D, Chamova T, Guergueltcheva V, Mitev V, Azmanov DN, Kalaydjieva L, Tournev I, Jordanova A. Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Movement Disorders : Official Journal of the Movement Disorder Society. 30: 854-8. PMID 25772097 DOI: 10.1002/Mds.26196 |
0.549 |
|
| 2015 |
Peeters K, Bervoets S, Chamova T, Litvinenko I, De Vriendt E, Bichev S, Kancheva D, Mitev V, Kennerson M, Timmerman V, De Jonghe P, Tournev I, MacMillan J, Jordanova A. Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies. Human Mutation. 36: 287-91. PMID 25512093 DOI: 10.1002/Humu.22744 |
0.702 |
|
| 2015 |
Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, et al. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain : a Journal of Neurology. 138: 293-310. PMID 25497877 DOI: 10.1093/Brain/Awu356 |
0.513 |
|
| 2015 |
Zimoń M, Battaloğlu E, Parman Y, Erdem S, Baets J, De Vriendt E, Atkinson D, Almeida-Souza L, Deconinck T, Ozes B, Goossens D, Cirak S, Van Damme P, Shboul M, Voit T, ... ... Jordanova A, et al. Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach. Neurogenetics. 16: 33-42. PMID 25231362 DOI: 10.1007/S10048-014-0422-0 |
0.688 |
|
| 2015 |
Peeters K, Bervoets S, Chamova T, Litvinenko I, De Vriendt E, Bichev S, Kancheva D, Mitev V, Kennerson M, Timmerman V, De Jonghe P, Tournev I, Macmillan J, Jordanova A. Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies Human Mutation. 36: 287-291. DOI: 10.1002/humu.22744 |
0.644 |
|
| 2014 |
Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, et al. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. American Journal of Human Genetics. 95: 590-601. PMID 25439726 DOI: 10.1016/J.Ajhg.2014.10.002 |
0.645 |
|
| 2014 |
Ivanov IS, Azmanov DN, Ivanova MB, Chamova T, Pacheva IH, Panova MV, Song S, Morar B, Yordanova RV, Galabova FK, Sotkova IG, Linev AJ, Bitchev S, Shearwood AM, Kancheva D, ... ... Jordanova A, et al. Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children. Molecular Genetics and Metabolism. 113: 76-83. PMID 25087164 DOI: 10.1016/J.Ymgme.2014.07.017 |
0.421 |
|
| 2014 |
Peeters K, Chamova T, Jordanova A. Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies. Brain : a Journal of Neurology. 137: 2879-96. PMID 24970098 DOI: 10.1093/Brain/Awu169 |
0.421 |
|
| 2014 |
Seburn KL, Morelli KH, Jordanova A, Burgess RW. Lack of neuropathy-related phenotypes in hint1 knockout mice. Journal of Neuropathology and Experimental Neurology. 73: 693-701. PMID 24918641 DOI: 10.1097/Nen.0000000000000085 |
0.427 |
|
| 2014 |
van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Mat?j R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, ... ... Jordanova A, et al. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta Neuropathologica. 128: 397-410. PMID 24899140 DOI: 10.1007/S00401-014-1298-7 |
0.592 |
|
| 2014 |
Ermanoska B, Motley WW, Leitão-Gonçalves R, Asselbergh B, Lee LH, De Rijk P, Sleegers K, Ooms T, Godenschwege TA, Timmerman V, Fischbeck KH, Jordanova A. CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila. Neurobiology of Disease. 68: 180-9. PMID 24807208 DOI: 10.1016/J.Nbd.2014.04.020 |
0.798 |
|
| 2014 |
Janssens K, Goethals S, Atkinson D, Ermanoska B, Fransen E, Jordanova A, Auer-Grumbach M, Asselbergh B, Timmerman V. Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila. Neurobiology of Disease. 65: 211-9. PMID 24521780 DOI: 10.1016/J.Nbd.2014.01.021 |
0.665 |
|
| 2014 |
Cottenie E, Kochanski A, Jordanova A, Baets J, Rasic VM, Quinlivan R, Lunn M, Hanna M, Zuchner S, Harms M, Choi B, Reilly M, Houlden H. P57 IGHMBP2 mutations cause recessive axonal neuropathy: Genetic and functional characterisation in seven families Neuromuscular Disorders. 24: S22. DOI: 10.1016/S0960-8966(14)70073-2 |
0.562 |
|
| 2014 |
Peeters K, Litvinenko I, Chamova T, Asselbergh B, Almeida-Souza L, Geuens T, Ydens E, Zimon M, Irobi J, Vriendt ED, Winter VD, Ooms T, Timmerman V, Tournev I, Jordanova A. G.P.237 Neuromuscular Disorders. 24: 888. DOI: 10.1016/J.Nmd.2014.06.313 |
0.652 |
|
| 2013 |
Peeters K, Litvinenko I, Asselbergh B, Almeida-Souza L, Chamova T, Geuens T, Ydens E, Zimoń M, Irobi J, De Vriendt E, De Winter V, Ooms T, Timmerman V, Tournev I, Jordanova A. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. American Journal of Human Genetics. 92: 955-64. PMID 23664119 DOI: 10.1016/J.Ajhg.2013.04.013 |
0.674 |
|
| 2013 |
Ylikallio E, Pöyhönen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lönnqvist T, Tyynismaa H. Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. Human Molecular Genetics. 22: 2975-83. PMID 23562820 DOI: 10.1093/Hmg/Ddt149 |
0.503 |
|
| 2013 |
Dillen L, Van Langenhove T, Engelborghs S, Vandenbulcke M, Sarafov S, Tournev I, Merlin C, Cras P, Vandenberghe R, De Deyn PP, Jordanova A, Cruts M, Van Broeckhoven C, van der Zee J. Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients. Neurobiology of Aging. 34: 1711.e1-5. PMID 23312802 DOI: 10.1016/J.Neurobiolaging.2012.12.007 |
0.328 |
|
| 2013 |
Pavićević DS, Rašić VM, Mladenović J, Stojanović VR, Brajušković G, Jordanova A, Jonghe PD, Todorović S, Romac S. 5. Molecular genetics of myotonic disorders in Serbian patients Clinical Neurophysiology. 124. DOI: 10.1016/J.Clinph.2012.12.014 |
0.516 |
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| 2013 |
Rasic VM, Nikodinovic J, Mladenovic J, Jonghe PD, Jordanova A, Baets J, Zimon M, Markovic MK, Pavicevic DS, Todorovic S. 4. Neurophysiologic and clinical characteristic of neuromyotonia in new hereditary neuromuscular disorder Clinical Neurophysiology. 124. DOI: 10.1016/J.Clinph.2012.12.013 |
0.536 |
|
| 2012 |
Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, ... ... Jordanova A, et al. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nature Genetics. 44: 1080-3. PMID 22961002 DOI: 10.1038/Ng.2406 |
0.683 |
|
| 2012 |
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LRF, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, et al. KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy Annals of Neurology. 71: 15-25. PMID 22275249 DOI: 10.1002/ana.22644 |
0.478 |
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| 2012 |
Leitão-Gonçalves R, Ermanoska B, Jacobs A, De Vriendt E, Timmerman V, Lupski JR, Callaerts P, Jordanova A. Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT. Amino Acids. 42: 1661-8. PMID 21384131 DOI: 10.1007/S00726-011-0868-4 |
0.792 |
|
| 2012 |
Guergueltcheva V, Peeters K, Baets J, Ceuterick-de Groote C, Martin J, Suls A, Vriendt E, Mihaylova V, Chamova T, Almeida-Souza L, Ydens E, Tzekov C, Hadjidekov G, Gospodinova M, Storm K, ... ... Jordanova A, et al. G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency Neuromuscular Disorders. 22: 874-875. DOI: 10.1016/J.Nmd.2012.06.238 |
0.689 |
|
| 2011 |
Guergueltcheva V, Peeters K, Baets J, Ceuterick-de Groote C, Martin JJ, Suls A, De Vriendt E, Mihaylova V, Chamova T, Almeida-Souza L, Ydens E, Tzekov C, Hadjidekov G, Gospodinova M, Storm K, ... ... Jordanova A, et al. Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency. Neurology. 77: 2105-14. PMID 22131542 DOI: 10.1212/Wnl.0B013E31823Dc51E |
0.592 |
|
| 2011 |
Baets J, Deconinck T, De Vriendt E, Zimoń M, Yperzeele L, Van Hoorenbeeck K, Peeters K, Spiegel R, Parman Y, Ceulemans B, Van Bogaert P, Pou-Serradell A, Bernert G, Dinopoulos A, Auer-Grumbach M, ... ... Jordanova A, et al. Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain : a Journal of Neurology. 134: 2664-76. PMID 21840889 DOI: 10.1093/Brain/Awr184 |
0.716 |
|
| 2011 |
Zimoń M, Baets J, Fabrizi GM, Jaakkola E, Kabzińska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, ... ... Jordanova A, et al. Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. Neurology. 77: 540-8. PMID 21753178 DOI: 10.1212/Wnl.0B013E318228Fc70 |
0.767 |
|
| 2011 |
Berciano J, Baets J, Gallardo E, Zimoń M, García A, López-Laso E, Combarros O, Infante J, Timmerman V, Jordanova A, De Jonghe P. Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. Journal of Neurology. 258: 1413-21. PMID 21336783 DOI: 10.1007/S00415-011-5947-7 |
0.729 |
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| 2011 |
Milić-Rašić V, Todorovic S, Nikodinovic J, Mladenovic J, DeJonghe P, Jordanova A, Baets J, Zimo M, Keckarevic M, Brankovic V. P16.3 Neuromyotonia as a main sign of a possible new type of hereditary axonal neuropathy European Journal of Paediatric Neurology. 15: S96. DOI: 10.1016/S1090-3798(11)70331-2 |
0.318 |
|
| 2010 |
Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Löscher W, Vondráček P, Seeman P, De Jonghe P, Van Dijck P, ... Jordanova A, et al. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. American Journal of Human Genetics. 87: 513-22. PMID 20920666 DOI: 10.1016/J.Ajhg.2010.09.010 |
0.724 |
|
| 2010 |
Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, et al. Mutations in SACS cause atypical and late-onset forms of ARSACS. Neurology. 75: 1181-8. PMID 20876471 DOI: 10.1212/Wnl.0B013E3181F4D86C |
0.599 |
|
| 2010 |
Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, Del-Favero J, Jansen A, Verhaert K, Lagae L, Jordanova A, Van Coster R, Yendle S, Berkovic SF, Scheffer I, et al. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology. 75: 1159-65. PMID 20876469 DOI: 10.1212/Wnl.0B013E3181F4D7Bf |
0.498 |
|
| 2010 |
Suls A, Velizarova R, Yordanova I, Deprez L, Dyck TV, Wauters J, Guergueltcheva V, Claes LRF, Kremensky I, Jordanova A, Jonghe PD. Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene Neurology. 75: 72-76. PMID 20484682 DOI: 10.1212/Wnl.0B013E3181E62088 |
0.559 |
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| 2010 |
Zimo? M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landouré G, Ludlow CL, ... ... Jordanova A, et al. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain : a Journal of Neurology. 133: 1798-809. PMID 20460441 DOI: 10.1093/Brain/Awq109 |
0.699 |
|
| 2010 |
Kabzińska D, Strugalska-Cynowska H, Kostera-Pruszczyk A, Ryniewicz B, Posmyk R, Midro A, Seeman P, Báranková L, Zimoń M, Baets J, Timmerman V, Guergueltcheva V, Tournev I, Sarafov S, De Jonghe P, ... Jordanova A, et al. L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype. Neurogenetics. 11: 357-66. PMID 20232219 DOI: 10.1007/S10048-010-0237-6 |
0.747 |
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| 2010 |
Dimova PS, Yordanova I, Bojinova V, Jordanova A, Kremenski I. Generalized epilepsy with febrile seizures plus: novel SCN1A mutation. Pediatric Neurology. 42: 137-40. PMID 20117752 DOI: 10.1016/J.Pediatrneurol.2009.09.007 |
0.406 |
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| 2009 |
Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Annals of Neurology. 66: 415-9. PMID 19798636 DOI: 10.1002/ana.21724 |
0.423 |
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| 2009 |
Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain : a Journal of Neurology. 132: 2699-711. PMID 19651702 DOI: 10.1093/Brain/Awp198 |
0.741 |
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| 2009 |
Claes LR, Deprez L, Suls A, Baets J, Smets K, Van Dyck T, Deconinck T, Jordanova A, De Jonghe P. The SCN1A variant database: a novel research and diagnostic tool. Human Mutation. 30: E904-20. PMID 19585586 DOI: 10.1002/Humu.21083 |
0.461 |
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| 2009 |
Storkebaum E, Leitão-Gonçalves R, Godenschwege T, Nangle L, Mejia M, Bosmans I, Ooms T, Jacobs A, Van Dijck P, Yang XL, Schimmel P, Norga K, Timmerman V, Callaerts P, Jordanova A. Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. Proceedings of the National Academy of Sciences of the United States of America. 106: 11782-7. PMID 19561293 DOI: 10.1073/Pnas.0905339106 |
0.804 |
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| 2009 |
Ceulemans B, Weckhuysen S, Verhaert K, Deprez L, Holmgren A, Janssen A, Paesschen WV, Jordanova A, Lagae L, Jonghe PD. O2-5 The clinical spectrum of STXBP1 mutations in early onset epileptic encephalpathy: between Ohtahara-syndrome and West syndrome? European Journal of Paediatric Neurology. 13. DOI: 10.1016/S1090-3798(09)70013-3 |
0.351 |
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| 2008 |
Dierick I, Baets J, Irobi J, Jacobs A, De Vriendt E, Deconinck T, Merlini L, Van den Bergh P, Rasic VM, Robberecht W, Fischer D, Morales RJ, Mitrovic Z, Seeman P, Mazanec R, ... ... Jordanova A, et al. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain : a Journal of Neurology. 131: 1217-27. PMID 18325928 DOI: 10.1093/Brain/Awn029 |
0.723 |
|
| 2007 |
Ivanova N, Claeys KG, Deconinck T, Litvinenko I, Jordanova A, Auer-Grumbach M, Haberlova J, Löfgren A, Smeyers G, Nelis E, Mercelis R, Plecko B, Priller J, ZámecnÃk J, Ceulemans B, et al. Hereditary spastic paraplegia 3A associated with axonal neuropathy. Archives of Neurology. 64: 706-13. PMID 17502470 DOI: 10.1001/Archneur.64.5.706 |
0.626 |
|
| 2006 |
Ivanova N, Löfgren A, Tournev I, Rousev R, Andreeva A, Jordanova A, Georgieva V, Deconinck T, Timmerman V, Kremensky I, De Jonghe P, Mitev V. Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia. Clinical Genetics. 70: 490-5. PMID 17100993 DOI: 10.1111/J.1399-0004.2006.00705.X |
0.749 |
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| 2006 |
Chakarova CF, Cherninkova S, Tournev I, Waseem N, Kaneva R, Jordanova A, Veraitch BK, Gill B, Colclough T, Nakova A, Oscar A, Mihaylova V, Nikolova-Hill A, Wright AF, Black GC, et al. Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families. Molecular Vision. 12: 909-14. PMID 16917484 |
0.421 |
|
| 2006 |
Irobi J, Dierick I, Jordanova A, Claeys KG, De Jonghe P, Timmerman V. Unraveling the genetics of distal hereditary motor neuronopathies. Neuromolecular Medicine. 8: 131-46. PMID 16775372 DOI: 10.1385/Nmm:8:1-2:131 |
0.608 |
|
| 2006 |
Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain : a Journal of Neurology. 129: 2093-102. PMID 16714318 DOI: 10.1093/Brain/Awl126 |
0.712 |
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| 2006 |
Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Annals of Neurology. 59: 276-81. PMID 16437557 DOI: 10.1002/Ana.20797 |
0.629 |
|
| 2006 |
Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nature Genetics. 38: 197-202. PMID 16429158 DOI: 10.1038/Ng1727 |
0.774 |
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| 2006 |
Gonçalves RBL, Jordanova A, Callaerts P, Timmerman V. N.P.3 01 Tyrosyl-tRNA synthetase (YARS), molecular genetics and functional studies on a dominant intermediate Charcot-Marie-Tooth associated gene Neuromuscular Disorders. 16: 664-664. DOI: 10.1016/J.Nmd.2006.05.077 |
0.702 |
|
| 2004 |
Irobi J, Van den Bergh P, Merlini L, Verellen C, Van Maldergem L, Dierick I, Verpoorten N, Jordanova A, Windpassinger C, De Vriendt E, Van Gerwen V, Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain : a Journal of Neurology. 127: 2124-30. PMID 15242882 DOI: 10.1093/Brain/Awh232 |
0.696 |
|
| 2004 |
Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van Den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, et al. SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. Annals of Neurology. 55: 713-20. PMID 15122712 DOI: 10.1002/Ana.20094 |
0.678 |
|
| 2004 |
Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nature Genetics. 36: 597-601. PMID 15122253 DOI: 10.1038/Ng1328 |
0.612 |
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| 2003 |
Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, Ishpekova B, De Vriendt E, Jacobs A, Litvinenko I, Ivanova N, Buzhov B, De Jonghe P, Kremensky I, Timmerman V. Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. American Journal of Human Genetics. 73: 1423-30. PMID 14606043 DOI: 10.1086/379792 |
0.596 |
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| 2003 |
Lus G, Nelis E, Jordanova A, Löfgren A, Cavallaro T, Ammendola A, Melone MA, Rizzuto N, Timmerman V, Cotrufo R, De Jonghe P. Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity. Neurology. 61: 988-90. PMID 14557576 DOI: 10.1212/Wnl.61.7.988 |
0.65 |
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| 2003 |
Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmüller H, Voit T, et al. Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. Human Mutation. 22: 129-35. PMID 12872253 DOI: 10.1002/Humu.10240 |
0.626 |
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| 2003 |
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. American Journal of Human Genetics. 72: 1293-9. PMID 12690580 DOI: 10.1086/375039 |
0.456 |
|
| 2003 |
Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain : a Journal of Neurology. 126: 590-7. PMID 12566280 DOI: 10.1093/Brain/Awg059 |
0.726 |
|
| 2002 |
Jordanova A, Kargaci V, Kremensky I, Litvinenko I, Uzunova M, Turnev I, Ishpekova B, Herzegfalvi A, Simeonova I, Kalaydjieva L. Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary. Neuromuscular Disorders : Nmd. 12: 378-85. PMID 12062256 |
0.346 |
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| 2001 |
Bruder CE, Hirvelä C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, Evans DG, Wallace AJ, Baser ME, Zucman-Rossi J, Hergersberg M, Boltshauser E, Papi L, Rouleau GA, ... ... Jordanova A, et al. High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Human Molecular Genetics. 10: 271-82. PMID 11159946 DOI: 10.1093/Hmg/10.3.271 |
0.342 |
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| 2000 |
Dörk T, Macek M, Mekus F, Tümmler B, Tzountzouris J, Casals T, Krebsová A, Koudová M, Sakmaryová I, Vávrová V, Zemková D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, ... ... Jordanova A, et al. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe Human Genetics. 106: 259-268. PMID 10798353 DOI: 10.1007/S004390000246 |
0.486 |
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| 1999 |
Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, et al. A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). American Journal of Human Genetics. 65: 1299-307. PMID 10521295 DOI: 10.1086/302611 |
0.569 |
|
| 1998 |
Jordanova A, Stoyanova V, Uzunova M, Litvinenko I, Kremensky I. Deletion analysis of Bulgarian SMA families Human Mutation. 12: 33-38. PMID 9633817 DOI: 10.1002/(Sici)1098-1004(1998)12:1<33::Aid-Humu5>3.0.Co;2-Y |
0.466 |
|
| 1997 |
Jordanova A, Kalaydjieva L, Savov A, Claustres M, Schwarz M, Estivill X, Angelicheva D, Haworth A, Casals T, Kremensky I. SSCP analysis: A blind sensitivity trial Human Mutation. 10: 65-70. PMID 9222762 DOI: 10.1002/(Sici)1098-1004(1997)10:1<65::Aid-Humu9>3.0.Co;2-L |
0.518 |
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| 1997 |
Angelicheva D, Calafell F, Savov A, Jordanova A, Kufardjieva A, Galeva I, Nedkova V, Ivanova T, Yankova P, Konstantinova D, Genev E, Kalaydjieva L. Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study. Human Genetics. 99: 513-20. PMID 9099843 DOI: 10.1007/S004390050398 |
0.535 |
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| 1996 |
Savov A, Angelicheva D, Jordanova A, Kremensky I, Kalaydjieva L. 2176insC: a novel mutation in exon 13 of the cystic fibrosis gene. Human Heredity. 46: 166-167. PMID 8860011 DOI: 10.1159/000154346 |
0.551 |
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| 1995 |
Varon R, Stuhrmann M, Macek M, Kufardjieva A, Angelicheva D, Magdorf K, Jordanova A, Savov A, Wahn U, Lalov V, Ivanova T, Ellemunter H, Vavrova V, Ferak V, Kayserova H, et al. Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation Human Mutation. 6: 219-225. PMID 8535440 DOI: 10.1002/Humu.1380060304 |
0.578 |
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| 1995 |
Savov A, Angelicheva D, Balassopoulou A, Jordanova A, Noussia-Arvanitakis S, Kalaydjieva L. Double mutant alleles: are they rare? Human Molecular Genetics. 4: 1169-1171. PMID 8528204 DOI: 10.1093/Hmg/4.7.1169 |
0.622 |
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| 1994 |
Angelicheva D, Boteva K, Jordanova A, Savov A, Kufardjieva A, Tolun A, Telatar M, Akarsubaşi A, Köprübaşi F, Aydoǧdu S, Demirkol M, Kurdoǧlu G, Constantinou‐Deltas CD, Georgiou C, Dean M, et al. Cystic fibrosis patients from the black sea region: The 1677delTA mutation Human Mutation. 3: 353-357. PMID 8081388 DOI: 10.1002/Humu.1380030405 |
0.535 |
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| 1994 |
Savov A, Jordanova A, Gavrilov D, Angelicheva D, Kalaydjieva L. G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient Human Molecular Genetics. 3: 513-514. PMID 7516777 DOI: 10.1093/Hmg/3.3.513 |
0.549 |
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