SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

Robert C Bucelli; Khalid Arhzaouy; Alan Pestronk; Sara K Pittman; Luisa Rojas; Carolyn M Sue; Anni Evilä; Peter Hackman; Bjarne Udd; Matthew Harms; Conrad C Weihl

doi:10.1212/wnl.0000000000001864

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

Robert C Bucelli, Khalid Arhzaouy, Alan Pestronk, Sara K Pittman, Luisa Rojas, Carolyn M Sue, Anni Evilä, Peter Hackman, Bjarne Udd, Matthew Harms, Conrad C Weihl

Department of Neurosciences and Rehabilitation

Research output: Contribution to journal › Article › Scientific › peer-review

49 Citations (Scopus)

Original language	English
Pages (from-to)	665-674
Journal	Neurology
Volume	85
Issue number	8
DOIs	https://doi.org/10.1212/wnl.0000000000001864
Publication status	Published - 2015
Publication type	A1 Journal article-refereed

Publication forum classification

Publication forum level 2

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10.1212/wnl.0000000000001864

Cite this

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title = "SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles",

author = "Bucelli, {Robert C} and Khalid Arhzaouy and Alan Pestronk and Pittman, {Sara K} and Luisa Rojas and Sue, {Carolyn M} and Anni Evil{\"a} and Peter Hackman and Bjarne Udd and Matthew Harms and Weihl, {Conrad C}",

year = "2015",

doi = "10.1212/wnl.0000000000001864",

language = "English",

volume = "85",

pages = "665--674",

journal = "Neurology",

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TY - JOUR

T1 - SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

AU - Bucelli, Robert C

AU - Arhzaouy, Khalid

AU - Pestronk, Alan

AU - Pittman, Sara K

AU - Rojas, Luisa

AU - Sue, Carolyn M

AU - Evilä, Anni

AU - Hackman, Peter

AU - Udd, Bjarne

AU - Harms, Matthew

AU - Weihl, Conrad C

PY - 2015

Y1 - 2015

U2 - 10.1212/wnl.0000000000001864

DO - 10.1212/wnl.0000000000001864

M3 - Article

SN - 0028-3878

VL - 85

SP - 665

EP - 674

JO - Neurology

JF - Neurology

IS - 8

ER -