The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

Brain

Volumn 137, Issue 2, 2014, Pages 411-419

  Mallaret, Martial ^a,b   Synofzik, Matthis ^c,d   Lee, Jaeho ^e   Sagum, Cari A ^e   Mahajnah, Muhammad ^f,g   Sharkia, Rajech ^h   Drouot, Nathalie ^b   Renaud, Mathilde ^a,b   Klein, Fabrice A C ^b   Anheim, Mathieu ^a,b   Tranchant, Christine ^a,b   Mignot, Cyril ⁱ   Mandel, Jean Louis ^b,j   Bedford, Mark ^e   Bauer, Peter ^k   Salih, Mustafa A ^l   Schüle, Rebecca ^c,d,m   Schöls, Ludger ^c,d   Aldaz, C Marcelo ^e   Koenig, Michel ^b,j,n  

^a HÔPITAL DE HAUTEPIERRE   (France)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^e UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^f HILLEL YAFFE MEDICAL CENTER   (Israel)

^g TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^h BEIT BERL COLLEGE   (Israel)

ⁱ ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^j HÔPITAL CIVIL   (France)

^k UNIVERSITY OF TÜBINGEN   (Germany)

^l KING SAUD UNIVERSITY   (Saudi Arabia)

^m UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

ⁿ MONTPELLIER UNIVERSITY HOSPITAL   (France)

more..

Author keywords

ataxia; hereditary spastic paraplegia; tonic clonic epilepsy; WW domain; WWOX

Indexed keywords

ARGININE; GLYCINE; PROLINE; PROTEIN; THREONINE; UNCLASSIFIED DRUG; WWOX PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ATAXIA; AUDIOGENIC SEIZURE; CEREBELLAR ATAXIA; CONSENSUS SEQUENCE; CONTROLLED STUDY; EPILEPSY; EXOME; FEMALE; GRAND MAL EPILEPSY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MENTAL DEFICIENCY; MISSENSE MUTATION; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

ATAXIA; HEREDITARY SPASTIC PARAPLEGIA; TONIC-CLONIC EPILEPSY; WW DOMAIN; WWOX;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; CELLS, CULTURED; CEREBELLAR ATAXIA; EPILEPSY; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICE; MICE, 129 STRAIN; MICE, INBRED C57BL; MICE, KNOCKOUT; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OXIDOREDUCTASES; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, SECONDARY; SAUDI ARABIA; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 84893833543     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt338     Document Type: Article

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