Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2004 1
2008 1
2009 4
2010 1
2011 2
2012 2
2013 1
2014 2
2015 2
2017 1
2018 4
2019 4
2020 2
2021 2
2022 4
2023 3
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

34 results

Results by year

Filters applied: . Clear all
Page 1
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.
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.
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.
Inherited peripheral neuropathies.
Saporta MA, Shy ME. Saporta MA, et al. Neurol Clin. 2013 May;31(2):597-619. doi: 10.1016/j.ncl.2013.01.009. Epub 2013 Mar 5. Neurol Clin. 2013. PMID: 23642725 Free PMC article. Review.
Mechanisms and Treatments in Demyelinating CMT.
Fridman V, Saporta MA. Fridman V, et al. Among authors: saporta ma. Neurotherapeutics. 2021 Oct;18(4):2236-2268. doi: 10.1007/s13311-021-01145-z. Epub 2021 Nov 8. Neurotherapeutics. 2021. PMID: 34750751 Free PMC article. Review.
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.
Yes, we can: Neuromuscular examination by telemedicine.
Saporta MA, Granit V, Lewis R, Benatar M. Saporta MA, et al. Muscle Nerve. 2020 Dec;62(6):E83-E85. doi: 10.1002/mus.27056. Epub 2020 Sep 29. Muscle Nerve. 2020. PMID: 32875561 No abstract available.
34 results