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 Custom Filters

Results by year

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

Year Number of Results
2011 1
2012 1
2013 1
2014 1
2017 1
2018 1
2021 1
2022 1
2023 4
2024 8
2025 3

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

22 results

Results by year

Filters applied: . Clear all
Page 1
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. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.
Sadjadi R, Picher-Martel V, Morrow JM, Thedens D, DiCamillo PA, McCray BA, Pareyson D, Herrmann DN, Reilly MM, Li J, Castro D, Shy ME; Inherited Neuropathy Consortium. Sadjadi R, et al. Neurology. 2024 Sep 10;103(5):e209763. doi: 10.1212/WNL.0000000000209763. Epub 2024 Aug 12. Neurology. 2024. PMID: 39133880 Free PMC article.
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.
Ward KS, Ptak CP, Pashkova N, Grider T, Peterson TA, Pareyson D, Pisciotta C, Saveri P, Moroni I, Laura M, Burns J, Menezes MP, Cornett K, Finkel R, Mukherjee-Clavin B, Sumner CJ, Greene M, Abdul Hamid O, Herrmann D, Sadjadi R, Walk D, Züchner S, Reilly MM, Scherer SS; Inherited Neuropathy Consortium; Piper RC, Shy ME. Ward KS, et al. Brain. 2025 Jun 9:awaf219. doi: 10.1093/brain/awaf219. Online ahead of print. Brain. 2025. PMID: 40488457
Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA Dataset.
Huggett SB, Tebbenkamp ATN, Rinaldi C, Jayaseelan D, Zampedri L, Blasi L, Fortuna A, Alqahtani A, Kokkinis A, Dahlqvist J, Fenu S, Cavalca E, Bertini A, Mariotti C, Grunseich C, Kawase T, Kishimoto Y, Yamada S, Katsuno M, Fratta P, Conte A, Sabatelli M, Soraru G, Vissing J, Kang M, Park JS, Pareyson D, Viglietta V. Huggett SB, et al. Among authors: cavalca e. Neurology. 2024 Dec 24;103(12):e210088. doi: 10.1212/WNL.0000000000210088. Epub 2024 Nov 26. Neurology. 2024. PMID: 39591556 Free PMC article.
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Kosmanopoulos GP, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network; McCray BA. Kosmanopoulos GP, et al. Brain. 2025 Jan 7;148(1):238-251. doi: 10.1093/brain/awae201. Brain. 2025. PMID: 38917025 Free PMC article.
Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure.
Mandarakas MR, Eichinger KJ, Bray P, Cornett KMD, Shy ME, Reilly MM, Ramdharry GM, Scherer SS, Pareyson D, Estilow T, McKay MJ; for ACT-CMT Study Group; Herrmann DN, Burns J. Mandarakas MR, et al. Neurology. 2024 Feb 13;102(3):e207963. doi: 10.1212/WNL.0000000000207963. Epub 2024 Jan 18. Neurology. 2024. PMID: 38237108 Free PMC article.
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.
Bertini A, Gentile L, Cavallaro T, Tozza S, Saveri P, Russo M, Massucco S, Falzone YM, Bellone E, Taioli F, Geroldi A, Occhipinti G, Ferrarini M, Cavalca E, Crivellari L, Mandich P, Balistreri F, Magri S, Taroni F, Previtali SC, Schenone A, Grandis M, Manganelli F, Fabrizi GM, Mazzeo A, Pareyson D, Pisciotta C. Bertini A, et al. Among authors: cavalca e. J Neurol Neurosurg Psychiatry. 2024 Dec 16;96(1):47-53. doi: 10.1136/jnnp-2024-333842. J Neurol Neurosurg Psychiatry. 2024. PMID: 38839277 Free PMC article.
22 results