| Inherited peripheral neuropathies MA Saporta, ME Shy Neurologic clinics 31 (2), 597-619, 2013 | 148 | 2013 |
| Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice A Patzko, Y Bai, MA Saporta, I Katona, XY Wu, D Vizzuso, ML Feltri, ... Brain 135 (12), 3551-3566, 2012 | 122 | 2012 |
| Axonal Charcot–Marie–Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties MA Saporta, V Dang, D Volfson, B Zou, XS Xie, A Adebola, RK Liem, ... Experimental neurology 263, 190-199, 2015 | 121 | 2015 |
| Shortened internodal length of dermal myelinated nerve fibres in Charcot–Marie-Tooth disease type 1A MA Saporta, I Katona, RA Lewis, S Masse, ME Shy, J Li Brain 132 (12), 3263-3273, 2009 | 116 | 2009 |
| Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia D Pellerin, MC Danzi, C Wilke, M Renaud, S Fazal, MJ Dicaire, CK Scriba, ... New England Journal of Medicine 388 (2), 128-141, 2023 | 95 | 2023 |
| Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development M Juneja, J Burns, MA Saporta, V Timmerman Journal of Neurology, Neurosurgery & Psychiatry 90 (1), 58-67, 2019 | 80 | 2019 |
| On the origin of the transthyretin Val30Met familial amyloid polyneuropathy C Zaros, E Genin, U Hellman, MA Saporta, L Languille, ... Annals of human genetics 72 (4), 478-484, 2008 | 75 | 2008 |
| MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot–Marie–Tooth disease type 1B MAC Saporta, BR Shy, A Patzko, Y Bai, M Pennuto, C Ferri, E Tinelli, ... Brain 135 (7), 2032-2047, 2012 | 69 | 2012 |
| Conduction block in PMP22 deficiency Y Bai, X Zhang, I Katona, MA Saporta, ME Shy, HA O'Malley, LL Isom, ... Journal of Neuroscience 30 (2), 600-608, 2010 | 69 | 2010 |
| Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families MAC Saporta, C Zaros, MW Cruz, C Andre, M Misrahi, C Bonaiti‐Pellie, ... European journal of neurology 16 (3), 337-341, 2009 | 63 | 2009 |
| Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ... The American Journal of Human Genetics 104 (6), 1127-1138, 2019 | 60 | 2019 |
| Charcot-Marie-Tooth disease and other inherited neuropathies MA Saporta CONTINUUM: Lifelong Learning in Neurology 20 (5), 1208-1225, 2014 | 53 | 2014 |
| De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia O Kanca, JC Andrews, PT Lee, C Patel, SR Braddock, AM Slavotinek, ... The American Journal of Human Genetics 105 (2), 413-424, 2019 | 49 | 2019 |
| Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1) FB Panosyan, M Laura, AM Rossor, C Pisciotta, G Piscosquito, J Burns, ... Neurology 89 (9), 927-935, 2017 | 48 | 2017 |
| Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ... Biological psychiatry 87 (2), 100-112, 2020 | 45 | 2020 |
| Enzymatically crosslinked gelatin–laminin hydrogels for applications in neuromuscular tissue engineering RR Besser, AC Bowles, A Alassaf, D Carbonero, I Claure, E Jones, ... Biomaterials science 8 (2), 591-606, 2020 | 45 | 2020 |
| Induced pluripotent stem cells in the study of neurological diseases MA Saporta, M Grskovic, JT Dimos Stem cell research & therapy 2, 1-9, 2011 | 45 | 2011 |
| Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study M Pipis, SME Feely, JM Polke, M Skorupinska, L Perez, RR Shy, M Laura, ... Brain 143 (12), 3589-3602, 2020 | 43 | 2020 |
| The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport R Maciel, DM Bis, AP Rebelo, C Saghira, S Züchner, MA Saporta Experimental neurology 307, 155-163, 2018 | 43 | 2018 |
| De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ... The American Journal of Human Genetics 106 (4), 570-583, 2020 | 41 | 2020 |
