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Authors: Matilde Laura
Journal Article
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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Brain, awaf021, https://doi.org/10.1093/brain/awaf021
Published: 13 February 2025
Journal Article
EDITOR'S CHOICE
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
Brain, Volume 147, Issue 9, September 2024, Pages 3144–3156, https://doi.org/10.1093/brain/awae064
Published: 14 March 2024
Journal Article
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Brain, Volume 146, Issue 12, December 2023, Pages 4880–4890, https://doi.org/10.1093/brain/awad328
Published: 28 September 2023
Journal Article
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1
Brain, Volume 146, Issue 10, October 2023, Pages 4025–4032, https://doi.org/10.1093/brain/awad203
Published: 20 June 2023
Journal Article
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants
Brain, Volume 146, Issue 10, October 2023, Pages 4336–4349, https://doi.org/10.1093/brain/awad187
Published: 07 June 2023
Journal Article
RFC1 expansions are a common cause of idiopathic sensory neuropathy
Brain, Volume 144, Issue 5, May 2021, Pages 1542–1550, https://doi.org/10.1093/brain/awab072
Published: 09 May 2021
Journal Article
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
Brain, Volume 143, Issue 12, December 2020, Pages 3589–3602, https://doi.org/10.1093/brain/awaa323
Published: 08 January 2021
Journal Article
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
Brain, Volume 143, Issue 2, February 2020, Pages 480–490, https://doi.org/10.1093/brain/awz418
Published: 10 February 2020
Journal Article
EDITOR'S CHOICE
Clinical and genetic characterization of leukoencephalopathies in adults
Brain, Volume 140, Issue 5, May 2017, Pages 1204–1211, https://doi.org/10.1093/brain/awx045
Published: 02 March 2017
Journal Article
Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene
Brain, Volume 138, Issue 11, November 2015, Pages 3180–3192, https://doi.org/10.1093/brain/awv241
Published: 26 August 2015
Journal Article
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders Get access
Brain, Volume 138, Issue 4, April 2015, Pages 845–861, https://doi.org/10.1093/brain/awv010
Published: 10 February 2015
