| Year |
Citation |
Score |
| 2024 |
Van Lent J, Prior R, Pérez Siles G, Cutrupi AN, Kennerson ML, Vangansewinkel T, Wolfs E, Mukherjee-Clavin B, Nevin Z, Judge L, Conklin B, Tyynismaa H, Clark AJ, Bennett DL, Van Den Bosch L, ... Saporta M, et al. Advances and challenges in modeling inherited peripheral neuropathies using iPSCs. Experimental & Molecular Medicine. PMID 38825644 DOI: 10.1038/s12276-024-01250-x |
0.303 |
|
| 2024 |
Rebelo AP, Abad C, Dohrn MF, Li JJ, Tieu EK, Medina J, Yanick C, Huang J, Zotter B, Young JI, Saporta M, Scherer SS, Walz K, Zuchner S. SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights. Brain : a Journal of Neurology. PMID 38538210 DOI: 10.1093/brain/awae079 |
0.33 |
|
| 2023 |
Rebelo AP, Abad C, Dohrn MF, Li JJ, Tieu E, Medina J, Yanick C, Huang J, Zotter B, Young JI, Saporta M, Scherer SS, Walz K, Zuchner S. Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights. Biorxiv : the Preprint Server For Biology. PMID 38106042 DOI: 10.1101/2023.12.05.570001 |
0.338 |
|
| 2022 |
Cutrupi AN, Narayanan RK, Perez-Siles G, Grosz BR, Lai K, Boyling A, Ellis M, Lin RCY, Neumann B, Mao D, Uesugi M, Nicholson GA, Vucic S, Saporta MA, Kennerson ML. Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy. Brain : a Journal of Neurology. PMID 36380488 DOI: 10.1093/brain/awac424 |
0.303 |
|
| 2021 |
Besser RR, Bowles AC, Alassaf A, Carbonero D, Maciel R, Saporta M, Agarwal A. Correction to: A Chemically Defined Common Medium for Culture of C2C12 Skeletal Muscle and Human Induced Pluripotent Stem Cell Derived Spinal Spheroids. Cellular and Molecular Bioengineering. 14: 131. PMID 33643471 DOI: 10.1007/s12195-020-00662-9 |
0.639 |
|
| 2020 |
Besser RR, Bowles AC, Alassaf A, Carbonero D, Maciel R, Saporta M, Agarwal A. A Chemically Defined Common Medium for Culture of C2C12 Skeletal Muscle and Human Induced Pluripotent Stem Cell Derived Spinal Spheroids. Cellular and Molecular Bioengineering. 13: 605-619. PMID 33281990 DOI: 10.1007/S12195-020-00624-1 |
0.657 |
|
| 2019 |
Besser RR, Bowles AC, Alassaf A, Carbonero D, Claure I, Jones E, Reda J, Wubker L, Batchelor W, Ziebarth N, Silvera R, Khan A, Maciel R, Saporta M, Agarwal A. Enzymatically crosslinked gelatin-laminin hydrogels for applications in neuromuscular tissue engineering. Biomaterials Science. PMID 31859298 DOI: 10.1039/C9Bm01430F |
0.649 |
|
| 2019 |
Maciel R, Correa R, Taniguchi JB, Araujo IP, Saporta MA. Human tridimensional neuronal cultures for phenotypic drug screening in inherited peripheral neuropathies. Clinical Pharmacology and Therapeutics. PMID 31715019 DOI: 10.1002/cpt.1718 |
0.66 |
|
| 2018 |
Maciel R, Bis DM, Rebelo AP, Saghira C, Züchner S, Saporta MA. The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport. Experimental Neurology. 307: 155-163. PMID 29935168 DOI: 10.1016/J.Expneurol.2018.06.008 |
0.63 |
|
| 2015 |
Saporta MA, Dang V, Volfson D, Zou B, Xie XS, Adebola A, Liem RK, Shy M, Dimos JT. Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. Experimental Neurology. 263: 190-9. PMID 25448007 DOI: 10.1016/J.Expneurol.2014.10.005 |
0.424 |
|
| 2011 |
Saporta MA, Grskovic M, Dimos JT. Induced pluripotent stem cells in the study of neurological diseases. Stem Cell Research & Therapy. 2: 37. PMID 21936964 DOI: 10.1186/scrt78 |
0.309 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2011 |
Saporta MA, Katona I, Zhang X, Roper HP, McClelland L, Macdonald F, Brueton L, Blake J, Suter U, Reilly MM, Shy ME, Li J. Neuropathy in a human without the PMP22 gene. Archives of Neurology. 68: 814-21. PMID 21670407 DOI: 10.1001/Archneurol.2011.110 |
0.289 |
|
| 2021 |
Feliciano CM, Wu K, Watry HL, Marley CBE, Ramadoss GN, Ghanim HY, Liu AZ, Zholudeva LV, McDevitt TC, Saporta MA, Conklin BR, Judge LM. Allele-Specific Gene Editing Rescues Pathology in a Human Model of Charcot-Marie-Tooth Disease Type 2E. Frontiers in Cell and Developmental Biology. 9: 723023. PMID 34485306 DOI: 10.3389/fcell.2021.723023 |
0.283 |
|
| 2017 |
Saporta MA, Shy ME. A human cellular model to study peripheral myelination and demyelinating neuropathies. Brain : a Journal of Neurology. 140: 856-859. PMID 28375459 DOI: 10.1093/brain/awx048 |
0.257 |
|
| 2009 |
Saporta MA, Katona I, Lewis RA, Masse S, Shy ME, Li J. Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. Brain : a Journal of Neurology. 132: 3263-73. PMID 19923170 DOI: 10.1093/brain/awp274 |
0.255 |
|
| 2023 |
Rebelo AP, Tomaselli PJ, Medina J, Wang Y, Dohrn M, Nyvltova E, Denzi M, Garrett M, Smith S, Pestronk A, Li C, Ruiz A, Jacobs E, Feely SME, França MC, ... ... Saporta M, et al. Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs. Brain : a Journal of Neurology. PMID 37170631 DOI: 10.1093/brain/awad158 |
0.252 |
|
| 2023 |
Latchman K, Saporta M, Moraes CT. Mitochondrial dysfunction characterized in human induced pluripotent stem cell disease models in MELAS syndrome: A brief summary. Mitochondrion. 72: 102-105. PMID 37633406 DOI: 10.1016/j.mito.2023.08.003 |
0.247 |
|
| 2023 |
Zhu Y, Lobato AG, Rebelo AP, Canic T, Ortiz Vega N, Tao X, Syed S, Yanick C, Saporta M, Shy M, Perfetti R, Shendelman S, Zuchner SL, Zhai RG. Sorbitol reduction via AT-007 (govorestat) ameliorates synaptic dysfunction and neurodegeneration in models of sorbitol dehydrogenase deficiency. Jci Insight. PMID 37014713 DOI: 10.1172/jci.insight.164954 |
0.243 |
|
| 2012 |
Saporta MA, Shy BR, Patzko A, Bai Y, Pennuto M, Ferri C, Tinelli E, Saveri P, Kirschner D, Crowther M, Southwood C, Wu X, Gow A, Feltri ML, Wrabetz L, et al. MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. Brain : a Journal of Neurology. 135: 2032-47. PMID 22689911 DOI: 10.1093/Brain/Aws140 |
0.238 |
|
| 2010 |
Bai Y, Zhang X, Katona I, Saporta MA, Shy ME, O'Malley HA, Isom LL, Suter U, Li J. Conduction block in PMP22 deficiency. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 30: 600-8. PMID 20071523 DOI: 10.1523/Jneurosci.4264-09.2010 |
0.227 |
|
| 2018 |
Saporta MA, de Moraes Maciel R. Analysis of Myelinating Schwann Cells in Human Skin Biopsies. Methods in Molecular Biology (Clifton, N.J.). 1739: 359-369. PMID 29546720 DOI: 10.1007/978-1-4939-7649-2_24 |
0.223 |
|
| 2014 |
Saporta MA. Charcot-Marie-Tooth disease and other inherited neuropathies. Continuum (Minneapolis, Minn.). 20: 1208-25. PMID 25299278 DOI: 10.1212/01.CON.0000455885.37169.4c |
0.222 |
|
| 2020 |
Dohrn MF, Saporta M. Hereditary motor neuropathies. Current Opinion in Neurology. PMID 32796276 DOI: 10.1097/WCO.0000000000000848 |
0.211 |
|
| 2022 |
Plastini MJ, Desu HL, Ascona MC, Lang AL, Saporta MA, Brambilla R. Transcriptional abnormalities in induced pluripotent stem cell-derived oligodendrocytes of individuals with primary progressive multiple sclerosis. Frontiers in Cellular Neuroscience. 16: 972144. PMID 36246526 DOI: 10.3389/fncel.2022.972144 |
0.209 |
|
| 2012 |
Patzkó A, Bai Y, Saporta MA, Katona I, Wu X, Vizzuso D, Feltri ML, Wang S, Dillon LM, Kamholz J, Kirschner D, Sarkar FH, Wrabetz L, Shy ME. Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Brain : a Journal of Neurology. 135: 3551-66. PMID 23250879 DOI: 10.1093/Brain/Aws299 |
0.209 |
|
| 2024 |
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, et al. Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of Clinical and Translational Neurology. PMID 38311799 DOI: 10.1002/acn3.51983 |
0.202 |
|
| 2024 |
Yanick C, Maciel R, Jacobs E, Schatzman J, Shy M, Zuchner S, Saporta M. Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy. Stem Cell Research. 78: 103449. PMID 38796985 DOI: 10.1016/j.scr.2024.103449 |
0.196 |
|
| 2018 |
Juneja M, Burns J, Saporta MA, Timmerman V. Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 30018047 DOI: 10.1136/Jnnp-2018-318834 |
0.188 |
|
| 2015 |
Saporta MA. Cellular reprogramming and inherited peripheral neuropathies: perspectives and challenges. Neural Regeneration Research. 10: 894-6. PMID 26199602 DOI: 10.4103/1673-5374.158345 |
0.185 |
|
| 2015 |
Saporta MA. Cellular reprogramming and inherited peripheral neuropathies: Perspectives and challenges Neural Regeneration Research. 10: 894-896. DOI: 10.4103/1673-5374.158345 |
0.185 |
|
| 2018 |
Montes-Chinea NI, Guan Z, Coutts M, Vidal C, Courel S, Rebelo AP, Abreu L, Zuchner S, Littleton JT, Saporta MA. Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype. Neurology. Genetics. 4: e282. PMID 30533528 DOI: 10.1212/Nxg.0000000000000282 |
0.17 |
|
| 2023 |
Cortese A, Currò R, Ronco R, Blake J, Rossor AM, Bugiardini E, Laurà M, Warner T, Yousry T, Poh R, Polke J, Rebelo A, Dohrn MF, Saporta M, Houlden H, et al. Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts. European Journal of Neurology. PMID 37772343 DOI: 10.1111/ene.16063 |
0.168 |
|
| 2010 |
Saporta MA, Katona I, Lewis RA, Masse S, Shy ME, Li J. Reply: Internodal length variability of dermal myelinated fibres Brain. 133: e143. DOI: 10.1093/brain/awq005 |
0.165 |
|
| 2021 |
Fridman V, Saporta MA. Mechanisms and Treatments in Demyelinating CMT. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. PMID 34750751 DOI: 10.1007/s13311-021-01145-z |
0.159 |
|
| 2013 |
Saporta MA, Shy ME. Inherited peripheral neuropathies. Neurologic Clinics. 31: 597-619. PMID 23642725 DOI: 10.1016/j.ncl.2013.01.009 |
0.152 |
|
| 2024 |
Xu IRL, Danzi MC, Ruiz A, Raposo J, De Jesus YA, Reilly MM, Cortese A, Shy ME, Scherer SS, Herrmann DN, Fridman V, Baets J, Saporta M, Seyedsadjadi R, Stojkovic T, et al. A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A. Journal of the Peripheral Nervous System : Jpns. PMID 38581130 DOI: 10.1111/jns.12621 |
0.121 |
|
| 2014 |
Saporta MA, Shy ME. Peripheral Neuropathies Neurobiology of Brain Disorders: Biological Basis of Neurological and Psychiatric Disorders. 167-188. DOI: 10.1016/B978-0-12-398270-4.00012-4 |
0.102 |
|
| 2021 |
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, ... ... Saporta M, et al. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain : a Journal of Neurology. PMID 33415332 DOI: 10.1093/brain/awaa323 |
0.097 |
|
| 2020 |
Thomas FP, Saporta M, Attarian S, Sevilla T, Mascaró RS, Fabrizi GM, Genovese F, Gray A, Bull S, Tanesse D, Rego M, Moore A, Hollett C, Monteiro K, Paoli X, et al. Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study. Neurodegenerative Disease Management. PMID 33086913 DOI: 10.2217/nmt-2020-0044 |
0.092 |
|
| 2019 |
Shukla S, Gultekin SH, Saporta M. Pearls & Oy-sters: Hydroxychloroquine-induced toxic myopathy mimics Pompe disease: Critical role of genetic test. Neurology. 92: e742-e745. PMID 30745451 DOI: 10.1212/WNL.0000000000006914 |
0.077 |
|
| 2004 |
Saporta MA, André C, Bahia PR, Chimelli L, Pais PH, Silva TS, Correia AH, Nobre AB. Acquired hepatocerebral degeneration without overt liver disease. Neurology. 63: 1981-2. PMID 15557536 DOI: 10.1212/01.Wnl.0000144193.62505.E6 |
0.071 |
|
| 2023 |
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, ... ... Saporta MA, et al. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain : a Journal of Neurology. PMID 37284795 DOI: 10.1093/brain/awad187 |
0.069 |
|
| 2020 |
Saporta MA, Granit V, Lewis R, Benatar M. Yes, we can: Neuromuscular examination by telemedicine. Muscle & Nerve. PMID 32875561 DOI: 10.1002/mus.27056 |
0.066 |
|
| 2019 |
Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, et al. Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A. Annals of Neurology. PMID 30706531 DOI: 10.1002/Ana.25426 |
0.066 |
|
| 2009 |
Saporta MA, Plante-Bordeneuve V, Misrahi M, Cruz MW. Discordant expression of familial amyloid polyneuropathy in monozygotic Brazilian twins. Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis. 16: 38-41. PMID 19291513 DOI: 10.1080/13506120802676955 |
0.066 |
|
| 2019 |
Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, et al. Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. Journal of Neuromuscular Diseases. PMID 30958311 DOI: 10.3233/Jnd-190377 |
0.065 |
|
| 2019 |
Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V. New family with 8-associated autosomal dominant rimmed vacuolar myopathy. Neurology. Genetics. 5: e349. PMID 31403083 DOI: 10.1212/NXG.0000000000000349 |
0.06 |
|
| 2008 |
Zaros C, Genin E, Hellman U, Saporta MA, Languille L, Wadington-Cruz M, Suhr O, Misrahi M, Planté-Bordeneuve V. On the origin of the transthyretin Val30Met familial amyloid polyneuropathy. Annals of Human Genetics. 72: 478-84. PMID 18460047 DOI: 10.1111/j.1469-1809.2008.00439.x |
0.059 |
|
| 2020 |
Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, ... ... Saporta M, et al. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology. PMID 32047073 DOI: 10.1212/Wnl.0000000000009035 |
0.043 |
|
| 2009 |
Saporta MA, Zaros C, Cruz MW, André C, Misrahi M, Bonaïti-Pellié C, Planté-Bordeneuve V. Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 16: 337-41. PMID 19364362 DOI: 10.1111/j.1468-1331.2008.02429.x |
0.04 |
|
| 2022 |
Thomas FP, Saporta MA, Attarian S, Sevilla T, Sivera R, Fabrizi GM, Genovese F, Gray AJ, Bull S, Tanesse D, Rego M, Moore A, Hollett C, Paoli X, Sénéchal T, et al. Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study. Journal of Clinical Neuromuscular Disease. 24: 7-17. PMID 36005469 DOI: 10.1097/CND.0000000000000426 |
0.034 |
|
| 2018 |
Margolesky J, Saporta M. Twenty-year-old African American woman with prion disease associated with the G114V variant. Neurology. Genetics. 4: e229. PMID 29577079 DOI: 10.1212/NXG.0000000000000229 |
0.028 |
|
| 2022 |
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, ... ... Saporta MA, et al. Deep Intronic GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. The New England Journal of Medicine. PMID 36516086 DOI: 10.1056/NEJMoa2207406 |
0.027 |
|
| 2008 |
Cruz M, Saporta M, André C, Novis S, Ribeiro J. 52. Liver transplantation for familial amyloidotic polyneuropathy Clinical Neurophysiology. 119: e42-e43. DOI: 10.1016/j.clinph.2007.11.102 |
0.015 |
|
| 2022 |
Burgess RW, Saporta MA. Brain Research Special Issue on CMT, Editorial. Brain Research. 1785: 147891. PMID 35339430 DOI: 10.1016/j.brainres.2022.147891 |
0.012 |
|
| 1998 |
Vincent M, Rodrigues Ade J, De Oliveira GV, De Souza KF, Doi LM, Rocha MB, Saporta MA, Orleans RB, Kotecki R, Estrela VV, De Medeiros VA, Borges WI. [Prevalence and indirect costs of headache in a Brazilian Company]. Arquivos De Neuro-Psiquiatria. 56: 734-43. PMID 10029875 |
0.01 |
|
| Hide low-probability matches. |