Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Neuron

Volumn 68, Issue 5, 2010, Pages 857-864

  Johnson, Janel O ^a   Mandrioli, Jessica ^b   Benatar, Michael ^c   Abramzon, Yevgeniya ^a   Van Deerlin, Vivianna M ^d   Trojanowski, John Q ^d   Gibbs, J Raphael ^a,e   Brunetti, Maura ^f   Gronka, Susan ^c   Wuu, Joanne ^c   Ding, Jinhui ^a   McCluskey, Leo ^d   Martinez Lage, Maria ^d   Falcone, Dana ^d   Hernandez, Dena G ^a,e   Arepalli, Sampath ^a   Chong, Sean ^a   Schymick, Jennifer C ^a   Rothstein, Jeffrey ^g   Landi, Francesco ^h   Wang, Yong Dong ⁱ   Calvo, Andrea ^j   Mora, Gabriele ^k   Sabatelli, Mario ^h   Monsurrò, Maria Rosaria ^l   Battistini, Stefania ^m   Salvi, Fabrizio ⁿ   Spataro, Rossella ^o   Sola, Patrizia ^b   Borghero, Giuseppe ^p   Galassi, Giuliana ^b   Scholz, Sonja W ^a,q   Taylor, J Paul ⁱ   Restagno, Gabriella ^f   Chiò, Adriano ^j   Traynor, Bryan J ^a,g   more..

^a NATIONAL INSTITUTE ON AGING   (United States)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f ASO OIRM S Anna   (Italy)

^g JOHNS HOPKINS HOSPITAL   (United States)

^h CATHOLIC UNIVERSITY   (Italy)

ⁱ ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^j UNIVERSITY OF TURIN   (Italy)

^k IRCCS   (Italy)

^l SECOND UNIVERSITY OF NAPLES   (Italy)

^m UNIVERSITY OF SIENA   (Italy)

ⁿ BELLARIA HOSPITAL   (Italy)

^o UNIVERSITY OF PALERMO   (Italy)

^p UNIVERSITY OF CAGLIARI   (Italy)

^q GEORGETOWN UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TAR DNA BINDING PROTEIN; VALOSIN CONTAINING PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE; GENE MUTATION; HUMAN; ITALY; LINKAGE ANALYSIS; MOTONEURON; MUTATIONAL ANALYSIS; MYOPATHY; NERVE DEGENERATION; PEDIGREE ANALYSIS; PHAGOSOME; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; SEQUENCE ANALYSIS; UBIQUITINATION; VCP GENE;

ADENOSINE TRIPHOSPHATASES; AGED; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; CHROMOSOMES, HUMAN, PAIR 9; COHORT STUDIES; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; REFERENCE VALUES;

EID: 78649941297     PISSN: 08966273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neuron.2010.11.036     Document Type: Article

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