Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

Nature

Volumn 488, Issue 7412, 2012, Pages 499-503

  Wu, Chi Hong ^a   Fallini, Claudia ^b   Ticozzi, Nicola ^c   Keagle, Pamela J ^a   Sapp, Peter C ^a,d   Piotrowska, Katarzyna ^a   Lowe, Patrick ^a   Koppers, Max ^e   McKenna Yasek, Diane ^a   Baron, Desiree M ^a   Kost, Jason E ^a   Gonzalez Perez, Paloma ^a   Fox, Andrew D ^a   Adams, Jenni ^a   Taroni, Franco ^f   Tiloca, Cinzia ^c,g   Leclerc, Ashley Lyn ^a   Chafe, Shawn C ^h   Mangroo, Dev ^h   Moore, Melissa J ^a   Zitzewitz, Jill A ^a   Xu, Zuo Shang ^a   Van Den Berg, Leonard H ^e   Glass, Jonathan D ^b   Siciliano, Gabriele ⁱ   Cirulli, Elizabeth T ^j   Goldstein, David B ^j   Salachas, Francois ^k   Meininger, Vincent ^k   Rossoll, Wilfried ^b   Ratti, Antonia ^c,g   Gellera, Cinzia ^f   Bosco, Daryl A ^a   Bassell, Gary J ^b   Silani, Vincenzo ^c,g   Drory, Vivian E ^l   Brown Jr , Robert H ^a   Landers, John E ^a   more..

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^d MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

^g UNIVERSITY OF MILAN   (Italy)

^h UNIVERSITY OF GUELPH   (Canada)

ⁱ UNIVERSITY OF PISA   (Italy)

^j DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^l TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

F ACTIN; G ACTIN; PROFILIN; PROFILIN I; TAR DNA BINDING PROTEIN; UNCLASSIFIED DRUG;

ETIOLOGY; GENE; INHIBITION; MUTATION; NERVOUS SYSTEM; NEUROLOGY;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CONTROLLED STUDY; EXOME; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; PATHOGENESIS; PRIORITY JOURNAL;

ACTINS; AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; AXONS; CELLS, CULTURED; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GROWTH CONES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; JEWS; MALE; MICE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MOTOR NEURONS; MUTANT PROTEINS; MUTATION; PEDIGREE; PROFILINS; PROTEIN CONFORMATION; UBIQUITINATION;

EID: 84865235172     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature11280     Document Type: Article

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