1-7 of 7
Authors: Adolfo Lòpez de Munaìn
Journal Article
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features
Brain, Volume 147, Issue 8, August 2024, Pages 2867–2883, https://doi.org/10.1093/brain/awae046
Published: 15 February 2024
Journal Article
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Brain, Volume 147, Issue 5, May 2024, Pages 1887–1898, https://doi.org/10.1093/brain/awad436
Published: 09 January 2024
Journal Article
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Brain, Volume 143, Issue 9, September 2020, Pages 2696–2708, https://doi.org/10.1093/brain/awaa228
Published: 01 September 2020
Journal Article
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy
Brain, Volume 142, Issue 9, September 2019, Pages 2605–2616, https://doi.org/10.1093/brain/awz216
Published: 22 July 2019
Journal Article
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications
Brain, Volume 142, Issue 6, June 2019, Pages 1561–1572, https://doi.org/10.1093/brain/awz102
Published: 26 April 2019
Journal Article
Dominant LGMD2A: alternative diagnosis or hidden digenism?
Brain, Volume 140, Issue 2, February 2017, Page e7, https://doi.org/10.1093/brain/aww281
Published: 05 November 2016
Journal Article
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain
Brain, Volume 138, Issue 12, December 2015, Page e400, https://doi.org/10.1093/brain/awv175
Published: 07 July 2015
