Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism

American Journal of Human Genetics

Volumn 87, Issue 3, 2010, Pages 410-417

  Fiskerstrand, Torunn ^a   H'Mida Ben Brahim, Dorra ^b,i   Johansson, Stefan ^a   M'Zahem, Abderrahim ^c   Haukanes, Bjørn Ivar ^a   Drouot, Nathalie ^b   Zimmermann, Julian ^d   Cole, Andrew J ^e   Vedeler, Christian ^a,f   Bredrup, Cecilie ^a   Assoum, Mirna ^b   Tazir, Meriem ^g   Klockgether, Thomas ^d,h   Hamri, Abdelmadjid ^c   Steen, Vidar M ^a,f   Boman, Helge ^a   Bindoff, Laurence A ^a,f   Koenig, Michel ^b   Knappskog, Per M ^a,f  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c Centre Hospitalo Universitaire Dr Benbadis Constantine   (Algeria)

^d UNIVERSITY HOSPITAL BONN   (Germany)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f UNIVERSITY OF BERGEN   (Norway)

^g CHU Mustapha   (Algeria)

^h GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

ⁱ FARHAT HACHED HOSPITAL   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

2 ARACHIDONOYLGLYCEROL; CANNABINOID 1 RECEPTOR; CANNABINOID 2 RECEPTOR; ENDOCANNABINOID; ABHD12 PROTEIN, HUMAN; ABHD12 PROTEIN, MOUSE; ACYLGLYCEROL LIPASE; CANNABINOID RECEPTOR AFFECTING AGENT; MESSENGER RNA;

ABHD12 GENE; ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; DEGENERATIVE DISEASE; DIFFERENTIAL DIAGNOSIS; ELECTROMYOGRAM; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INBORN ERROR OF METABOLISM; MALE; MUTATOR GENE; NEUROGRAPHY; NEUROTRANSMISSION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYNEUROPATHY HEARING LOSS ATAXIA RETINITIS PIGMENTOSA AND CATARACT SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; ANIMAL; ENZYMOLOGY; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETICS; GENOTYPE; METABOLISM; MIDDLE AGED; MOUSE; MULTIPLE MALFORMATION SYNDROME; MUTATION; PHENOTYPE; SYNDROME; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANIMALS; CHILD; ENDOCANNABINOIDS; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENOTYPE; HUMANS; MALE; METABOLISM, INBORN ERRORS; MICE; MIDDLE AGED; MONOACYLGLYCEROL LIPASES; MUTATION; NEURODEGENERATIVE DISEASES; PHENOTYPE; RNA, MESSENGER; SYNDROME; YOUNG ADULT; CANNABINOID RECEPTOR MODULATORS;

EID: 77956394211     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.08.002     Document Type: Article

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