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Page 1
On the origin of the transthyretin Val30Met familial amyloid polyneuropathy.
Zaros C, Genin E, Hellman U, Saporta MA, Languille L, Wadington-Cruz M, Suhr O, Misrahi M, Planté-Bordeneuve V. Zaros C, et al. Among authors: saporta ma. Ann Hum Genet. 2008 Jul;72(Pt 4):478-84. doi: 10.1111/j.1469-1809.2008.00439.x. Epub 2008 May 5. Ann Hum Genet. 2008. PMID: 18460047
[Prevalence and indirect costs of headache in a Brazilian Company].
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. Vincent M, et al. Among authors: saporta ma. Arq Neuropsiquiatr. 1998 Dec;56(4):734-43. doi: 10.1590/s0004-282x1998000500006. Arq Neuropsiquiatr. 1998. PMID: 10029875 Portuguese.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
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, McWalter K, Warman-Chardon J, Crunk A, Foley AR; Undiagnosed Diseases Network; Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG. Donkervoort S, et al. Among authors: saporta ma. Ann Clin Transl Neurol. 2024 Mar;11(3):629-640. doi: 10.1002/acn3.51983. Epub 2024 Feb 4. Ann Clin Transl Neurol. 2024. PMID: 38311799 Free PMC article.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
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, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Among authors: saporta ma. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
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, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. Pellerin D, et al. Among authors: saporta ma. N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14. N Engl J Med. 2023. PMID: 36516086 Free PMC article.
Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study.
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, Day L, Ouyang C, Llewellyn S, Larkin M, Boutalbi Y. Thomas FP, et al. Among authors: saporta ma. J Clin Neuromuscul Dis. 2022 Sep 1;24(1):7-17. doi: 10.1097/CND.0000000000000426. Epub 2022 Aug 19. J Clin Neuromuscul Dis. 2022. PMID: 36005469 Free PMC article.
Brain Research Special Issue on CMT, Editorial.
Burgess RW, Saporta MA. Burgess RW, et al. Among authors: saporta ma. Brain Res. 2022 Jun 15;1785:147891. doi: 10.1016/j.brainres.2022.147891. Epub 2022 Mar 23. Brain Res. 2022. PMID: 35339430 No abstract available.
34 results