| Year |
Citation |
Score |
| 2024 |
Beijer D, Marte S, Li JC, De Ridder W, Chen JZ, Tadenev ALD, Miers KE, Deconinck T, Macdonell R, Marques W, De Jonghe P, Pratt SL, Meyer-Schuman R, Züchner S, Antonellis A, ... ... Baets J, et al. Dominant mutations causing axonal Charcot-Marie-Tooth disease expand -associated diseases. Brain Communications. 6: fcae070. PMID 38495304 DOI: 10.1093/braincomms/fcae070 |
0.362 |
|
| 2024 |
Van de Vondel L, De Winter J, Timmerman V, Baets J. Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias. Trends in Neurosciences. 47: 227-238. PMID 38360512 DOI: 10.1016/j.tins.2024.01.004 |
0.344 |
|
| 2023 |
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, ... ... Baets J, et al. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain : a Journal of Neurology. PMID 37769650 DOI: 10.1093/brain/awad328 |
0.382 |
|
| 2023 |
Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, et al. C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD. Acta Neuropathologica. PMID 37000196 DOI: 10.1007/s00401-023-02565-1 |
0.327 |
|
| 2023 |
De Bleecker JL, Claeys KG, Delstanche S, Van Parys V, Baets J, Tilleux S, Remiche G. A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium. Acta Neurologica Belgica. PMID 36829087 DOI: 10.1007/s13760-023-02188-z |
0.382 |
|
| 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 |
0.381 |
|
| 2022 |
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, ... ... Baets J, et al. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 35150594 DOI: 10.1002/mds.28959 |
0.384 |
|
| 2021 |
Longo F, De Ritis D, Miluzio A, Fraticelli D, Baets J, Scarlato M, Santorelli FM, Biffo S, Maltecca F. Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis. Neurology. PMID 34649874 DOI: 10.1212/WNL.0000000000012962 |
0.413 |
|
| 2021 |
Beijer D, Agnew T, Rack JGM, Prokhorova E, Deconinck T, Ceulemans B, Peric S, Milic Rasic V, De Jonghe P, Ahel I, Baets J. Biallelic mutations in complex neuropathy affect ADP ribosylation and DNA damage response. Life Science Alliance. 4. PMID 34479984 DOI: 10.26508/lsa.202101057 |
0.358 |
|
| 2021 |
Beijer D, Kim HJ, Guo L, O'Donovan K, Mademan I, Deconinck T, Van Schil K, Fare CM, Drake LE, Ford AF, Kochański A, Kabzińska D, Dubuisson N, Van den Bergh P, Voermans NC, ... ... Baets J, et al. Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation. Jci Insight. 6. PMID 34291734 DOI: 10.1172/jci.insight.148363 |
0.341 |
|
| 2021 |
van der Zee J, Dillen L, Baradaran-Heravi Y, Gossye H, Koçoğlu C, Cuyt I, Dermaut B, Sieben A, Baets J, De Jonghe P, Vandenberghe R, De Deyn P, Cras P, Engelborghs S, Van Broeckhoven C, et al. Family-based exome sequencing identifies RBM45 as a possible candidate gene for frontotemporal dementia and amyotrophic lateral sclerosis. Neurobiology of Disease. 156: 105421. PMID 34118419 DOI: 10.1016/j.nbd.2021.105421 |
0.34 |
|
| 2021 |
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, ... ... Baets J, et al. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain : a Journal of Neurology. PMID 33970200 DOI: 10.1093/brain/awab041 |
0.315 |
|
| 2021 |
Crosiers D, Sieben A, Ceyssens S, Parizel PM, Baets J. Cerebellar ataxia in progressive supranuclear palsy: a clinico-pathological case report. Acta Neurologica Belgica. PMID 33666882 DOI: 10.1007/s13760-021-01629-x |
0.455 |
|
| 2020 |
De Winter J, Beijer D, De Ridder W, Synofzik M, Zuchner SL, Van Damme P, Spileers W, Baets J. PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway. Brain : a Journal of Neurology. PMID 33230519 DOI: 10.1093/brain/awaa389 |
0.325 |
|
| 2020 |
Beijer D, Baets J. The expanding genetic landscape of hereditary motor neuropathies. Brain : a Journal of Neurology. PMID 33210134 DOI: 10.1093/brain/awaa311 |
0.308 |
|
| 2020 |
Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, ... ... Baets J, et al. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. American Journal of Human Genetics. PMID 32937143 DOI: 10.1016/J.Ajhg.2020.08.018 |
0.421 |
|
| 2020 |
Eidhof I, Baets J, Kamsteeg EJ, Schenck A, van de Warrenburg BP. Reply: Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family. Brain : a Journal of Neurology. PMID 32428197 DOI: 10.1093/Brain/Awaa122 |
0.379 |
|
| 2020 |
Traschütz A, Schirinzi T, Laugwitz L, Murray NH, Bingman CA, Reich S, Kern J, Heinzmann A, Vasco G, Bertini E, Zanni G, Durr A, Magri S, Taroni F, Malandrini A, ... Baets J, et al. Clinico-genetic, imaging and molecular delineation of COQ8A-ataxia: a multicenter study of 59 patients. Annals of Neurology. PMID 32337771 DOI: 10.1002/Ana.25751 |
0.333 |
|
| 2020 |
Vanherpe P, Fieuws S, D'Hondt A, Bleyenheuft C, Demaerel P, De Bleecker J, Van den Bergh P, Baets J, Remiche G, Verhoeven K, Delstanche S, Toussaint M, Buyse B, Van Damme P, Depuydt CE, et al. Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures. Orphanet Journal of Rare Diseases. 15: 83. PMID 32248831 DOI: 10.1186/S13023-020-01353-4 |
0.416 |
|
| 2020 |
Lawson VH, Baets J. Tempering our metrics: Findings new ways to refine tried and true instruments. Neurology. PMID 32041725 DOI: 10.1212/Wnl.0000000000009028 |
0.445 |
|
| 2019 |
De Ridder W, Azmi A, Clemen CS, Eichinger L, Hofmann A, Schröder R, Johnson K, Töpf A, Straub V, De Jonghe P, Maudsley S, De Bleecker JL, Baets J. Multisystem proteinopathy due to a homozygous p.Arg159His mutation: A tale of the unexpected. Neurology. PMID 31848255 DOI: 10.1212/Wnl.0000000000008763 |
0.48 |
|
| 2019 |
Hedberg-Oldfors C, De Ridder W, Kalev O, Böck K, Visuttijai K, Caravias G, Töpf A, Straub V, Baets J, Oldfors A. Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency. Neuromuscular Disorders : Nmd. 29: 951-960. PMID 31791869 DOI: 10.1016/J.Nmd.2019.10.002 |
0.409 |
|
| 2019 |
Beijer D, Sisto A, Van Lent J, Baets J, Timmerman V. Defects in Axonal Transport in Inherited Neuropathies. Journal of Neuromuscular Diseases. PMID 31561383 DOI: 10.3233/Jnd-190427 |
0.315 |
|
| 2019 |
Blocquel D, Sun L, Matuszek Z, Li S, Weber T, Kuhle B, Kooi G, Wei N, Baets J, Pan T, Schimmel P, Yang XL. CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells. Proceedings of the National Academy of Sciences of the United States of America. PMID 31501329 DOI: 10.1073/Pnas.1908288116 |
0.461 |
|
| 2019 |
Beijer D, Deconinck T, De Bleecker JL, Dotti MT, Malandrini A, Urtizberea JA, Zulaica M, López de Munain A, Asselbergh B, De Jonghe P, Baets J. Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. Brain : a Journal of Neurology. PMID 31332438 DOI: 10.1093/Brain/Awz216 |
0.497 |
|
| 2019 |
Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, et al. FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. Brain : a Journal of Neurology. 142: 1561-1572. PMID 31135052 DOI: 10.1093/Brain/Awz102 |
0.45 |
|
| 2019 |
De Ridder W, Nelson I, Asselbergh B, De Paepe B, Beuvin M, Ben Yaou R, Masson C, Boland A, Deleuze JF, Maisonobe T, Eymard B, Symoens S, Schindler R, Brand T, Johnson K, ... ... Baets J, et al. Muscular dystrophy with arrhythmia caused by loss-of-function mutations in . Neurology. Genetics. 5: e321. PMID 31119192 DOI: 10.1212/Nxg.0000000000000321 |
0.502 |
|
| 2019 |
Heytens K, De Ridder W, De Bleecker J, Heytens L, Baets J. Exertional rhabdomyolysis: Relevance of clinical and laboratory findings, and clues for investigation. Anaesthesia and Intensive Care. 310057X19835830. PMID 31070454 DOI: 10.1177/0310057X19835830 |
0.346 |
|
| 2019 |
Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, et al. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with . Neurology. PMID 31068484 DOI: 10.1212/Wnl.0000000000007606 |
0.37 |
|
| 2019 |
Tulli S, Del Bondio A, Baderna V, Mazza D, Codazzi F, Pierson TM, Ambrosi A, Nolte D, Goizet C, Toro C, Baets J, Deconinck T, DeJonghe P, Mandich P, Casari G, et al. Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation. Journal of Medical Genetics. PMID 30910913 DOI: 10.1136/Jmedgenet-2018-105766 |
0.327 |
|
| 2019 |
Knuiman GJ, Küsters B, Eshuis L, Snoeck M, Lammens M, Heytens L, De Ridder W, Baets J, Scalco RS, Quinlivan R, Holton J, Bodi I, Wraige E, Radunovic A, von Landenberg C, et al. The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations. Journal of Neurology. PMID 30788618 DOI: 10.1007/S00415-019-09209-Z |
0.434 |
|
| 2019 |
Annoussamy M, Baets J, De Ridder W, Duchêne D, Grangé A, Lilien C, Chê V, Gidaro T, Seferian A, Behin A, Voermans N, Bitoun M, Hogrel J, Freitag C, Paradis K, et al. P.107Clinical changes over time in patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study Neuromuscular Disorders. 29: S79-S80. DOI: 10.1016/J.Nmd.2019.06.163 |
0.438 |
|
| 2018 |
Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schüle R, Züchner S, De Jonghe P, Schenck A, van de Warrenburg BP. GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. Brain : a Journal of Neurology. PMID 30084953 DOI: 10.1093/Brain/Awy198 |
0.493 |
|
| 2018 |
Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Łusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, ... ... Baets J, et al. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skeletal Muscle. 8: 23. PMID 30060766 DOI: 10.1186/S13395-018-0170-1 |
0.389 |
|
| 2018 |
Synofzik M, Helbig KL, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, Guo W, Wang R, Palmaer E, Tang S, Schaefer GB, Gburek-Augustat J, Züchner S, Krägeloh-Mann I, Baets J, et al. De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. European Journal of Human Genetics : Ejhg. PMID 29925855 DOI: 10.1038/S41431-018-0206-3 |
0.395 |
|
| 2018 |
Johnson K, De Ridder W, Töpf A, Bertoli M, Phillips L, De Jonghe P, Baets J, Deconinck T, Rakocevic Stojanovic V, Perić S, Durmus H, Jamal-Omidi S, Nafissi S, Mongini T, Łusakowska A, et al. Extending the clinical and mutational spectrum of -related myopathies in a non-Hutterite population. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 29921608 DOI: 10.1136/Jnnp-2018-318288 |
0.496 |
|
| 2018 |
Baradaran-Heravi Y, Dillen L, Nguyen HP, Van Mossevelde S, Baets J, De Jonghe P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenberghe R, Van Damme P, Cras P, Salmon E, Synofzik M, Heutink P, et al. No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients. Neurobiology of Aging. PMID 29886022 DOI: 10.1016/J.Neurobiolaging.2018.05.005 |
0.411 |
|
| 2018 |
Salter CG, Beijer D, Hardy H, Barwick KES, Bower M, Mademan I, De Jonghe P, Deconinck T, Russell MA, McEntagart MM, Chioza BA, Blakely RD, Chilton JK, De Bleecker J, Baets J, et al. Truncatingmutations underlie a spectrum of dominant hereditary motor neuropathies. Neurology. Genetics. 4: e222. PMID 29582019 DOI: 10.1212/Nxg.0000000000000222 |
0.388 |
|
| 2018 |
Juneja M, Azmi A, Baets J, Roos A, Jennings MJ, Saveri P, Pisciotta C, Bernard-Marissal N, Schneider BL, Verfaillie C, Chrast R, Seeman P, Hahn AF, de Jonghe P, Maudsley S, et al. PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 29449460 DOI: 10.1136/Jnnp-2017-317562 |
0.375 |
|
| 2018 |
Nelson I, Ridder WD, Asselbergh B, Paepe BD, Beuvin M, Yaou RB, Boland A, Deleuze J, Maisonobe T, Eymard B, Bleecker JD, Symoens S, Schindler R, Brand T, Töpf A, ... ... Baets J, et al. BVES loss-of-function mutations in limb-girdle muscular dystrophy 2X with cardiac conduction disorders Neuromuscular Disorders. 28. DOI: 10.1016/J.Nmd.2018.06.128 |
0.376 |
|
| 2017 |
Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, et al. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Human Mutation. PMID 29235198 DOI: 10.1002/Humu.23380 |
0.457 |
|
| 2017 |
Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, et al. Limb girdle muscular dystrophy due to mutations in POMT2. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 29175898 DOI: 10.1136/Jnnp-2017-317018 |
0.432 |
|
| 2017 |
Wilke C, Baets J, De Bleecker JL, Deconinck T, Biskup S, Hayer SN, Züchner S, Schüle R, De Jonghe P, Synofzik M. Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes. Neurobiology of Aging. PMID 29137817 DOI: 10.1016/J.Neurobiolaging.2017.10.010 |
0.511 |
|
| 2017 |
Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, et al. Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. Brain : a Journal of Neurology. PMID 29126212 DOI: 10.1093/Brain/Awx273 |
0.389 |
|
| 2017 |
Adriaenssens E, Geuens T, Baets J, Echaniz-Laguna A, Timmerman V. Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases. Brain : a Journal of Neurology. 140: 2541-2549. PMID 28969372 DOI: 10.1093/Brain/Awx187 |
0.43 |
|
| 2017 |
Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer TJ, Prukop T, Garcia-Angarita N, Czesnik D, Haberlová J, Mazanec R, Paulus W, ... ... Baets J, et al. Biomarkers predict outcome in Charcot- Marie-Tooth disease 1A. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 28860329 DOI: 10.1136/Jnnp-2017-315721 |
0.307 |
|
| 2017 |
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, ... ... Baets J, et al. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain : a Journal of Neurology. PMID 28459997 DOI: 10.1093/Brain/Awx095 |
0.539 |
|
| 2017 |
Tsai PC, Soong BW, Mademan I, Huang YH, Liu CR, Hsiao CT, Wu HT, Liu TT, Liu YT, Tseng YT, Lin KP, Yang UC, Chung KW, Choi BO, Nicholson GA, ... ... Baets J, et al. A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Brain : a Journal of Neurology. PMID 28369220 DOI: 10.1093/Brain/Awx058 |
0.461 |
|
| 2017 |
Hayer SN, Deconinck T, Bender B, Smets K, Züchner S, Reich S, Schöls L, Schüle R, De Jonghe P, Baets J, Synofzik M. STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations. Orphanet Journal of Rare Diseases. 12: 31. PMID 28193273 DOI: 10.1186/S13023-017-0580-X |
0.462 |
|
| 2017 |
Van Mossevelde S, van der Zee J, Gijselinck I, Sleegers K, De Bleecker J, Sieben A, Vandenberghe R, Van Langenhove T, Baets J, Deryck O, Santens P, Ivanoiu A, Willems C, Bäumer V, Van den Broeck M, et al. Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion. Jama Neurology. PMID 28192553 DOI: 10.1001/Jamaneurol.2016.4847 |
0.37 |
|
| 2017 |
Johnson K, Töpf A, Bertoli M, Phillips L, Ridder WD, Jonghe PD, Baets J, Deconinck T, Stojanovic VR, Peric S, Durmus H, Omidi S, Nafissi S, Lusakowska A, Mongini T, et al. Detection of TRIM32 variants associated with LGMD2H in a large cohort of patients with unexplained limb-girdle weakness Neuromuscular Disorders. 27. DOI: 10.1016/S0960-8966(17)30338-3 |
0.315 |
|
| 2016 |
Perrone F, Nguyen HP, Van Mossevelde S, Moisse M, Sieben A, Santens P, De Bleecker J, Vandenbulcke M, Engelborghs S, Baets J, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Martin JJ, et al. Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients. Neurobiology of Aging. PMID 28069311 DOI: 10.1016/J.Neurobiolaging.2016.12.008 |
0.47 |
|
| 2016 |
Seco CZ, Castells-Nobau A, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen M, Szklarczyk R, Oti M, ... ... Baets J, et al. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. Disease Models & Mechanisms. PMID 28067622 DOI: 10.1242/Dmm.026476 |
0.489 |
|
| 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, 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 |
0.474 |
|
| 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 |
0.427 |
|
| 2016 |
Hirst J, Madeo M, Smets K, Edgar JR, Schols L, Li J, Yarrow A, Deconinck T, Baets J, Van Aken E, De Bleecker J, Datiles MB, Roda RH, Liepert J, Züchner S, et al. Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). Neurology. Genetics. 2: e98. PMID 27606357 DOI: 10.1212/Nxg.0000000000000098 |
0.451 |
|
| 2016 |
Mademan I, Harmuth F, Giordano I, Timmann D, Magri S, Deconinck T, Claaßen J, Jokisch D, Genc G, Di Bella D, Romito S, Schüle R, Züchner S, Taroni F, Klockgether T, ... ... Baets J, et al. Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum. Brain : a Journal of Neurology. PMID 27197992 DOI: 10.1093/Brain/Aww115 |
0.474 |
|
| 2016 |
Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, et al. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large scale multi-centre study. Brain : a Journal of Neurology. PMID 27086870 DOI: 10.1093/Brain/Aww079 |
0.501 |
|
| 2016 |
Vanlander AV, Muiño Mosquera L, Panzer J, Deconinck T, Smet J, Seneca S, Van Dorpe J, Ferdinande L, Ceuterick-de Groote C, De Jonghe P, Van Coster R, Baets J. Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses. Mitochondrion. 27: 32-8. PMID 26855408 DOI: 10.1016/J.Mito.2016.02.001 |
0.375 |
|
| 2015 |
Van Mossevelde S, van der Zee J, Gijselinck I, Engelborghs S, Sieben A, Van Langenhove T, De Bleecker J, Baets J, Vandenbulcke M, Van Laere K, Ceyssens S, Van den Broeck M, Peeters K, Mattheijssens M, Cras P, et al. Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort. Brain : a Journal of Neurology. PMID 26674655 DOI: 10.1093/Brain/Awv358 |
0.447 |
|
| 2015 |
Smets K, Duarri A, Deconinck T, Ceulemans B, van de Warrenburg BP, Züchner S, Gonzalez MA, Schüle R, Synofzik M, Van der Aa N, De Jonghe P, Verbeek DS, Baets J. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy. Bmc Medical Genetics. 16: 51. PMID 26189493 DOI: 10.1186/S12881-015-0200-3 |
0.425 |
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| 2015 |
Safka Brozkova D, Deconinck T, Beth Griffin L, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, ... ... Baets J, et al. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain : a Journal of Neurology. 138: 2161-72. PMID 26072516 DOI: 10.1093/Brain/Awv158 |
0.536 |
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| 2015 |
Kraeva N, Heytens L, Jungbluth H, Treves S, Voermans N, Kamsteeg E, Ceuterick-de Groote C, Baets J, Riazi S. Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. Neuromuscular Disorders : Nmd. 25: 567-76. PMID 25958340 DOI: 10.1016/J.Nmd.2015.04.007 |
0.413 |
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| 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 |
0.426 |
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| 2015 |
Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, et al. Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Brain : a Journal of Neurology. 138: 845-61. PMID 25678562 DOI: 10.1093/Brain/Awv010 |
0.462 |
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| 2015 |
Yiş U, Mademan I, Kavukçu S, Baets J. A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis. Acta Neurologica Belgica. 115: 509-11. PMID 25519000 DOI: 10.1007/S13760-014-0405-9 |
0.417 |
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| 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, 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 |
0.515 |
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| 2015 |
Mladenović J, Glumac JN, Kosać A, Marković MK, Baets J, Rašić VM. Elevated level of creatinine phosphokinase in the blood of patients with peripheral polyneuropathies Clinical Neurophysiology. 126. DOI: 10.1016/J.Clinph.2015.04.043 |
0.381 |
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| 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 |
0.512 |
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| 2014 |
Baets J, De Jonghe P, Timmerman V. Recent advances in Charcot-Marie-Tooth disease. Current Opinion in Neurology. 27: 532-40. PMID 25110935 DOI: 10.1097/Wco.0000000000000131 |
0.329 |
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| 2014 |
Smets K, Deconinck T, Baets J, Sieben A, Martin JJ, Smouts I, Wang S, Taroni F, Di Bella D, Van Hecke W, Parizel PM, Jadoul C, De Potter R, Couvreur F, Rugarli E, et al. Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28. Neurology. 82: 2092-100. PMID 24814845 DOI: 10.1212/Wnl.0000000000000491 |
0.628 |
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| 2014 |
Schabhüttl M, Wieland T, Senderek J, Baets J, Timmerman V, De Jonghe P, Reilly MM, Stieglbauer K, Laich E, Windhager R, Erwa W, Trajanoski S, Strom TM, Auer-Grumbach M. Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. Journal of Neurology. 261: 970-82. PMID 24627108 DOI: 10.1007/S00415-014-7289-8 |
0.489 |
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| 2014 |
Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Gießelmann S, Beil FT, Pou-Serradell A, Vílchez JJ, Beetz C, Deconinck T, Timmerman V, ... ... Baets J, et al. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 Brain. 137: 683-692. PMID 24459106 DOI: 10.1093/Brain/Awt357 |
0.473 |
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| 2014 |
Caetano JS, Costa C, Baets J, Zimon Phd M, Venâncio Phd M, Saraiva Phd J, Negrão L, Fineza I. Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity. Pediatric Neurology. 50: 104-7. PMID 24131582 DOI: 10.1016/J.Pediatrneurol.2013.08.028 |
0.339 |
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| 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 |
0.461 |
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| 2013 |
Mademan I, Deconinck T, Dinopoulos A, Voit T, Schara U, Devriendt K, Meijers B, Lerut E, De Jonghe P, Baets J. De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. Neurology. 81: 1953-8. PMID 24174593 DOI: 10.1212/01.Wnl.0000436615.58705.C9 |
0.502 |
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| 2013 |
Landrieu P, Baets J. Early onset (childhood) monogenic neuropathies. Handbook of Clinical Neurology. 115: 863-91. PMID 23931819 DOI: 10.1016/B978-0-444-52902-2.00049-7 |
0.414 |
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| 2013 |
Landrieu P, Baets J, De Jonghe P. Hereditary motor-sensory, motor, and sensory neuropathies in childhood. Handbook of Clinical Neurology. 113: 1413-32. PMID 23622364 DOI: 10.1016/B978-0-444-59565-2.00011-3 |
0.377 |
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| 2013 |
Madrid RE, Lofgren A, Baets J, Timmerman V. Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse. Neuromuscular Disorders : Nmd. 23: 345-8. PMID 23313019 DOI: 10.1016/J.Nmd.2012.12.005 |
0.441 |
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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 |
0.481 |
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| 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, 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 |
0.392 |
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| 2012 |
Schotsmans K, De Cauwer H, Baets J, Ceyssens S, van den Hauwe L, Deconinck T, Helsen G. Cerebrotendinous xanthomatosis presenting with asymmetric parkinsonism: a case with I-123-FP-CIT SPECT imaging. Acta Neurologica Belgica. 112: 287-9. PMID 22527785 DOI: 10.1007/S13760-012-0064-7 |
0.346 |
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| 2012 |
Raducu M, Baets J, Fano O, Van Coster R, Cruces J. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. European Journal of Human Genetics : Ejhg. 20: 945-52. PMID 22419172 DOI: 10.1038/Ejhg.2012.40 |
0.397 |
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| 2012 |
Rotthier A, Baets J, Timmerman V, Janssens K. Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nature Reviews. Neurology. 8: 73-85. PMID 22270030 DOI: 10.1038/Nrneurol.2011.227 |
0.367 |
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| 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, 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 |
0.477 |
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| 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, et al. Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency. Neurology. 77: 2105-14. PMID 22131542 DOI: 10.1212/Wnl.0B013E31823Dc51E |
0.384 |
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| 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, 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 |
0.459 |
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| 2011 |
Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, et al. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. American Journal of Human Genetics. 89: 219-30. PMID 21820098 DOI: 10.1016/J.Ajhg.2011.06.013 |
0.422 |
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| 2011 |
Baets J, Timmerman V. Inherited peripheral neuropathies: a myriad of genes and complex phenotypes. Brain : a Journal of Neurology. 134: 1587-90. PMID 21616967 DOI: 10.1093/Brain/Awr114 |
0.506 |
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| 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 |
0.514 |
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| 2011 |
Baets J, De Jonghe P. TRPV4 neuropathies: calcium channel inhibition as a therapeutic target? Neurology. 76: 856-7. PMID 21288983 DOI: 10.1212/Wnl.0B013E31820F2E9A |
0.466 |
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| 2011 |
Guelly C, Zhu PP, Leonardis L, Papić L, Zidar J, Schabhüttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Fröhlich E, Hatz M, et al. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. American Journal of Human Genetics. 88: 99-105. PMID 21194679 DOI: 10.1016/J.Ajhg.2010.12.003 |
0.409 |
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| 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, 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 |
0.411 |
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| 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 |
0.396 |
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| 2010 |
Rakocevic-Stojanovic V, Milić-Rašić V, Perić S, Baets J, Timmerman V, Dierick I, Pavlović S, De Jonghe P. N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome Journal of the Neurological Sciences. 296: 107-109. PMID 20598714 DOI: 10.1016/J.Jns.2010.06.015 |
0.464 |
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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, 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 |
0.424 |
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| 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, 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 |
0.513 |
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| 2010 |
Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, et al. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. American Journal of Human Genetics. 86: 343-52. PMID 20170900 DOI: 10.1016/J.Ajhg.2010.01.027 |
0.379 |
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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 |
0.467 |
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| 2009 |
Claeys KG, Züchner S, Kennerson M, Berciano J, Garcia A, Verhoeven K, Storey E, Merory JR, Bienfait HM, Lammens M, Nelis E, Baets J, De Vriendt E, Berneman ZN, De Veuster I, et al. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain : a Journal of Neurology. 132: 1741-52. PMID 19502294 DOI: 10.1093/Brain/Awp115 |
0.411 |
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| 2009 |
Harbo HF, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen C, et al. EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 16: 777-85. PMID 19469830 DOI: 10.1111/J.1468-1331.2009.02646.X |
0.323 |
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| 2009 |
Baets J, Dierick I, Groote CC, Ende Jv, Martin JJ, Geens K, Robberecht W, Nelis E, Timmerman V, Jonghe PD. Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity. Neuromuscular Disorders : Nmd. 19: 172-5. PMID 19167223 DOI: 10.1016/J.Nmd.2008.11.006 |
0.422 |
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| 2009 |
Kilic SS, Ozturk R, Sarisozen B, Rotthier A, Baets J, Timmerman V. Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis. Neurogenetics. 10: 161-5. PMID 19089473 DOI: 10.1007/S10048-008-0165-X |
0.423 |
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| 2009 |
De Meirleir L, Baets J, Schmedding E, Desprechins B, De Coninck T, De Jonghe P. P313 Early onset clinical and neuroradiological signs in 2 siblings with mutations in the Sacs gene European Journal of Paediatric Neurology. 13: S118. DOI: 10.1016/S1090-3798(09)70371-X |
0.44 |
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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, 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 |
0.445 |
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| 2008 |
Beetz C, Schüle R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, et al. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain : a Journal of Neurology. 131: 1078-86. PMID 18321925 DOI: 10.1093/Brain/Awn026 |
0.446 |
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