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Authors: Perrine Charles
Journal Article
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia
Brain, Volume 145, Issue 9, September 2022, Pages 3095–3107, https://doi.org/10.1093/brain/awac123
Published: 18 June 2022
Journal Article
Motor neuron pathology in CANVAS due to RFC1 expansions
Brain, Volume 145, Issue 6, June 2022, Pages 2121–2132, https://doi.org/10.1093/brain/awab449
Published: 20 December 2021
Journal Article
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia
Brain, Volume 145, Issue 4, April 2022, Pages 1519–1534, https://doi.org/10.1093/brain/awab407
Published: 11 November 2021
Journal Article
EDITOR'S CHOICE
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies
Brain, Volume 140, Issue 6, June 2017, Pages 1579–1594, https://doi.org/10.1093/brain/awx081
Published: 21 April 2017
Journal Article
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Brain, Volume 140, Issue 5, May 2017, Pages 1316–1336, https://doi.org/10.1093/brain/awx054
Published: 04 April 2017
Journal Article
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Brain, Volume 138, Issue 8, August 2015, Pages 2191–2205, https://doi.org/10.1093/brain/awv143
Published: 30 May 2015
Journal Article
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment Get access
Brain, Volume 137, Issue 10, October 2014, Pages 2657–2663, https://doi.org/10.1093/brain/awu202
Published: 27 July 2014
Journal Article
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy Get access
Brain, Volume 135, Issue 10, October 2012, Pages 2980–2993, https://doi.org/10.1093/brain/aws240
Published: 11 October 2012
Journal Article
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment Get access
Brain, Volume 131, Issue 5, May 2008, Pages 1352–1361, https://doi.org/10.1093/brain/awn059
Published: 31 March 2008
Journal Article
Re‐expression of PSA‐NCAM by demyelinated axons: an inhibitor of remyelination in multiple sclerosis? Get access
Brain, Volume 125, Issue 9, September 2002, Pages 1972–1979, https://doi.org/10.1093/brain/awf216
Published: 01 September 2002
