Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

dc.contributor.author	Alessia Nasca
dc.contributor.author	Chiara Scotton
dc.contributor.author	Irina Zaharieva
dc.contributor.author	Marcella Neri
dc.contributor.author	Rita Selvatici
dc.contributor.author	Olafur Thor Magnusson
dc.contributor.author	Aniko Gal
dc.contributor.author	David Weaver
dc.contributor.author	Rachele Rossi
dc.contributor.author	Annarita Armaroli
dc.contributor.author	Marika Pane
dc.contributor.author	Rahul Phadke
dc.contributor.author	Anna Sarkozy
dc.contributor.author	Francesco Muntoni
dc.contributor.author	Imelda Hughes
dc.contributor.author	Antonella Cecconi
dc.contributor.author	György Hajnóczky
dc.contributor.author	Alice Donati
dc.contributor.author	Eugenio Mercuri
dc.contributor.author	Massimo Zeviani
dc.contributor.author	Alessandra Ferlini
dc.contributor.author	Daniele Ghezzi
dc.date.accessioned	2022-04-07T12:57:51Z
dc.date.available	2022-04-07T12:57:51Z
dc.date.issued	2017
dc.identifier	journalVolume=38;journalIssueNumber=8;journalTitle=HUMAN MUTATION;pagerange=970-970;journalAbbreviatedTitle=HUM MUTAT;
dc.identifier.citation	journalVolume=38;journalIssueNumber=8;journalTitle=HUMAN MUTATION;pagerange=970-977;journalAbbreviatedTitle=HUMAN MUTATION;
dc.identifier.uri	http://repo.lib.semmelweis.hu//handle/123456789/6577
dc.identifier.uri	doi:10.1002/humu.23262
dc.format.extent	970-977
dc.relation.ispartof	urn:issn:1059-7794
dc.title	Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia
dc.date.updated	2018-12-04T19:45:58Z
dc.rights.holder	NULL
dc.identifier.mtmt	3237879
dc.contributor.institution	Neurológiai Klinika
dc.contributor.institution	Genomikai Medicina és Ritka Betegségek Intézete