Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 2 |
2022 | 3 |
2023 | 4 |
2024 | 0 |
Search Results
7 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.
Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187.
Brain. 2023.
PMID: 37284795
Free PMC article.
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.
Reilly MM, Herrmann DN, Pareyson D, Scherer SS, Finkel RS, Züchner S, Burns J, Shy ME.
Reilly MM, et al.
Ann Neurol. 2023 May;93(5):906-910. doi: 10.1002/ana.26633. Epub 2023 Mar 21.
Ann Neurol. 2023.
PMID: 36891823
Free PMC article.
Review.
Item in Clipboard
Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease.
Record CJ, Pipis M, Poh R, Polke JM, Reilly MM.
Record CJ, et al.
J Neurol Neurosurg Psychiatry. 2023 Apr;94(4):327-328. doi: 10.1136/jnnp-2022-330223. Epub 2022 Nov 14.
J Neurol Neurosurg Psychiatry. 2023.
PMID: 36376020
Free PMC article.
No abstract available.
Item in Clipboard
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Fridman V, Sillau S, Bockhorst J, Smith K, Moroni I, Pagliano E, Pisciotta C, Piscosquito G, Laurá M, Muntoni F, Bacon C, Feely S, Grider T, Gutmann L, Shy R, Wilcox J, Herrmann DN, Li J, Ramchandren S, Sumner CJ, Lloyd TE, Day J, Siskind CE, Yum SW, Sadjadi R, Finkel RS, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium-Rare Diseases Clinical Research Network.
Fridman V, et al.
Ann Neurol. 2023 Mar;93(3):563-576. doi: 10.1002/ana.26518. Epub 2022 Oct 28.
Ann Neurol. 2023.
PMID: 36203352
Free PMC article.
Item in Clipboard
Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A.
Eichinger K, Sowden JE, Burns J, McDermott MP, Krischer J, Thornton J, Pareyson D, Scherer SS, Shy ME, Reilly MM, Herrmann DN.
Eichinger K, et al.
Front Neurol. 2022 Jun 27;13:930435. doi: 10.3389/fneur.2022.930435. eCollection 2022.
Front Neurol. 2022.
PMID: 35832173
Free PMC article.
Item in Clipboard
Reliability of the Charcot-Marie-Tooth functional outcome measure.
Bray P, Cornett KMD, Estilow T, Pareyson D, Zuccarino R, Skorupinska M, Pipis M, Sowden JE, Scherer S, Reilly MM, Shy ME, Herrmann DN, Burns J, Eichinger KJ.
Bray P, et al.
J Peripher Nerv Syst. 2020 Sep;25(3):288-291. doi: 10.1111/jns.12406. Epub 2020 Aug 26.
J Peripher Nerv Syst. 2020.
PMID: 32844461
Free PMC article.
Item in Clipboard
Validation of the Italian version of the Charcot-Marie-Tooth Health Index.
Pisciotta C, Ciafaloni E, Zuccarino R, Calabrese D, Saveri P, Fenu S, Tramacere I, Genovese F, Dilek N, Johnson NE, Heatwole C, Herrmann DN, Pareyson D; ACT-CMT Study Group.
Pisciotta C, et al.
J Peripher Nerv Syst. 2020 Sep;25(3):292-296. doi: 10.1111/jns.12397. Epub 2020 Jun 24.
J Peripher Nerv Syst. 2020.
PMID: 32511835
Free PMC article.
Item in Clipboard
Cite
Cite