Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

American Journal of Human Genetics

Volumn 92, Issue 2, 2013, Pages 245-251

  Hammer, Monia B ^a,b   Eleuch Fayache, Ghada ^b   Schottlaender, Lucia V ^c   Nehdi, Houda ^b   Gibbs, J Raphael ^a,d   Arepalli, Sampath K ^a   Chong, Sean B ^a   Hernandez, Dena G ^a,d   Sailer, Anna ^c   Liu, Guoxiang ^a   Mistry, Pramod K ^e   Cai, Huaibin ^a   Shrader, Ginamarie ^a   Sassi, Celeste ^a,d   Bouhlal, Yosr ^f   Houlden, Henry ^c   Hentati, Fayçal ^b   Amouri, Rim ^b   Singleton, Andrew B ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

^b Institut National de Neurologie Tunisia   (Tunisia)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCOSIDASE; BETA GLUCOSIDASE 2; GENOMIC DNA; MESSENGER RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; CHILD; CHROMOSOME 9; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; EXOME; FEMALE; GAUCHER DISEASE; GENE MAPPING; GENETIC CODE; GENOTYPE; HOMOZYGOSITY; HUMAN; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BETA-GLUCOSIDASE; CEREBELLAR ATAXIA; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCLE SPASTICITY; MUTATION; PEDIGREE; TUNISIA;

EID: 84873733145     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.12.012     Document Type: Article

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