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Authors: Chiara Pisciotta
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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Andrea Cortese and others
Brain, awaf021, https://doi.org/10.1093/brain/awaf021
Published: 13 February 2025
Journal Article
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations
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Gage P Kosmanopoulos and others
Brain, Volume 148, Issue 1, January 2025, Pages 238–251, https://doi.org/10.1093/brain/awae201
Published: 25 June 2024
Journal Article
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
Natalia Dominik and others
Brain, Volume 146, Issue 12, December 2023, Pages 5060–5069, https://doi.org/10.1093/brain/awad240
Published: 14 July 2023
Journal Article
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants
Christopher J Record and others
Brain, Volume 146, Issue 10, October 2023, Pages 4336–4349, https://doi.org/10.1093/brain/awad187
Published: 07 June 2023
Journal Article
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
Menelaos Pipis and others
Brain, Volume 143, Issue 12, December 2020, Pages 3589–3602, https://doi.org/10.1093/brain/awaa323
Published: 08 January 2021
Journal Article
Functional involvement of central cholinergic circuits and visual hallucinations in Parkinson's disease
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Fiore Manganelli and others
Brain, Volume 132, Issue 9, September 2009, Pages 2350–2355, https://doi.org/10.1093/brain/awp166
Published: 07 July 2009
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