1-5 of 5
Authors: Beril Talim
Journal Article
Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia Free
Brain, Volume 147, Issue 7, July 2024, Pages e45–e49, https://doi.org/10.1093/brain/awae099
Published: 18 April 2024
Journal Article
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation Get access
Brain, Volume 136, Issue 2, February 2013, Page e228, https://doi.org/10.1093/brain/aws197
Published: 24 September 2012
Journal Article
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency Get access
Brain, Volume 134, Issue 1, January 2011, Pages 183–195, https://doi.org/10.1093/brain/awq320
Published: 17 December 2010
Journal Article
Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan Get access
Brain, Volume 130, Issue 10, October 2007, Pages 2725–2735, https://doi.org/10.1093/brain/awm212
Published: 18 August 2007
Journal Article
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene Get access
Brain, Volume 130, Issue 8, August 2007, Pages 2037–2044, https://doi.org/10.1093/brain/awm054
Published: 05 April 2007
