TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

Brain

Volumn 137, Issue 10, 2014, Pages 2657-2663

  Delplanque, Jérôme ^a,b   Devos, David ^b   Huin, Vincent ^b   Genet, Alexandre ^b   Sand, Olivier ^a   Moreau, Caroline ^b   Goizet, Cyril ^c   Charles, Perrine ^d   Anheim, Mathieu ^e   Monin, Marie Lorraine ^d   Buée, Luc ^b   Destée, Alain ^b   Grolez, Guillaume ^b   Delmaire, Christine ^b   Dujardin, Kathy ^b   Dellacherie, Delphine ^b   Brice, Alexis ^d,f   Stevanin, Giovanni ^d,g   Strubi Vuillaume, Isabelle ^b   Dürr, Alexandra ^d,f   Sablonnière, Bernard ^b,h   more..

^a CNRS   (France)

^b UNIV LILLE   (France)

^c Laboratoire Maladies Rares Génétique et Métabolisme Bordeaux University   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^f INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^g PSL RESEARCH UNIVERSITY   (France)

^h JEAN PIERRE AUBERT RESEARCH CENTER   (France)

Author keywords

Exome; Spinocerebellar ataxia; TMEM240

Indexed keywords

MEMBRANE PROTEIN; TMEM240 PROTEIN, HUMAN;

ADOLESCENT; AMINO ACID SEQUENCE; ARTICLE; CHILD; CHROMOSOME 1; COGNITIVE DEFECT; COHORT ANALYSIS; EXOME; FEMALE; FRANCE; GENETIC LINKAGE; GENETICS; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; INTELLIGENCE TEST; INTRON; MALE; MOLECULAR GENETICS; MUTATION; NEUROPSYCHOLOGICAL TEST; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOLOGY; PEDIGREE; PHYSIOLOGY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PSYCHOLOGICAL ASPECT; SPINOCEREBELLAR ATAXIA; SPINOCEREBELLAR DEGENERATION; TMEM240; YOUNG ADULT;

EXOME; SPINOCEREBELLAR ATAXIA; TMEM240;

ADOLESCENT; AGE OF ONSET; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 1; COGNITION DISORDERS; COHORT STUDIES; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; FRANCE; GENETIC LINKAGE; HUMANS; INFANT; INTELLECTUAL DISABILITY; INTELLIGENCE TESTS; INTRONS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; POLYMERASE CHAIN REACTION; SPINOCEREBELLAR DEGENERATIONS; YOUNG ADULT;

EID: 84908475945     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu202     Document Type: Article

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