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Authors: Mauro Santibanez-Koref
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Journal Article
Exome sequencing in undiagnosed inherited and sporadic ataxias
Angela Pyle and others
Brain, Volume 138, Issue 2, February 2015, Pages 276–283, https://doi.org/10.1093/brain/awu348
Published: 12 December 2014
Journal Article
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation
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Beril Talim and others
Brain, Volume 136, Issue 2, February 2013, Page e228, https://doi.org/10.1093/brain/aws197
Published: 24 September 2012
Journal Article
Titin mutation segregates with hereditary myopathy with early respiratory failure
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Gerald Pfeffer and others
Brain, Volume 135, Issue 6, June 2012, Pages 1695–1713, https://doi.org/10.1093/brain/aws102
Published: 09 May 2012
Journal Article
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A
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Emma J. Groen and others
Brain, Volume 130, Issue 12, December 2007, Pages 3237–3249, https://doi.org/10.1093/brain/awm259
Published: 01 December 2007
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