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 B. 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 B. Harms, Conrad C. Weihl

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Neurology
Volym	85
Nummer	8
Sidor (från-till)	665-674
Antal sidor	10
ISSN	0028-3878
DOI	https://doi.org/10.1212/WNL.0000000000001864
Status	Publicerad - 25 aug. 2015
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3112 Neurovetenskaper

Åtkomst av dokument

10.1212/WNL.0000000000001864

Citera det här

@article{6300e19036e444f3b9427796843f9a5c,

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

keywords = "AMYOTROPHIC-LATERAL-SCLEROSIS, VALOSIN-CONTAINING PROTEIN, PAGETS-DISEASE, FRONTOTEMPORAL DEMENTIA, FUNCTIONAL-ANALYSIS, AUTOPHAGY, DOMAIN, BONE, GENE, P62, 3112 Neurosciences",

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 Harms, {Matthew B.} and Weihl, {Conrad C.}",

year = "2015",

month = aug,

day = "25",

doi = "10.1212/WNL.0000000000001864",

language = "English",

volume = "85",

pages = "665--674",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott williams & wilkins",

number = "8",

}

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 B.

AU - Weihl, Conrad C.

PY - 2015/8/25

Y1 - 2015/8/25

KW - AMYOTROPHIC-LATERAL-SCLEROSIS

KW - VALOSIN-CONTAINING PROTEIN

KW - PAGETS-DISEASE

KW - FRONTOTEMPORAL DEMENTIA

KW - FUNCTIONAL-ANALYSIS

KW - AUTOPHAGY

KW - DOMAIN

KW - BONE

KW - GENE

KW - P62

KW - 3112 Neurosciences

U2 - 10.1212/WNL.0000000000001864

DO - 10.1212/WNL.0000000000001864

M3 - Article

VL - 85

SP - 665

EP - 674

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 8

ER -