A Novel GBA2 Gene Missense Mutation in Spastic Ataxia

Annals of Human Genetics

Volumn 78, Issue 1, 2014, Pages 13-22

  Votsi, Christina ^a   Zamba Papanicolaou, Eleni ^a   Middleton, Lefkos T ^a,b   Pantzaris, Marios ^a   Christodoulou, Kyproula ^a  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

Exome sequencing; Homozygosity mapping; Recessive ataxia; Spastic ataxia

Indexed keywords

COMPLEMENTARY DNA; GBA2 PROTEIN; GENOMIC DNA; PROTEIN; RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; ASPIRATION PNEUMONIA; AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BABINSKI REFLEX; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM; CEREBELLUM ATROPHY; CHROMOSOME 9P; CLINICAL EVALUATION; CONTROLLED STUDY; DYSARTHRIA; DYSPHAGIA; EXOME; FAMILY; FEMALE; FOOT MALFORMATION; GENE IDENTIFICATION; GENE LOCUS; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GENOME; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; MILD COGNITIVE IMPAIRMENT; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPHTHALMOPLEGIA; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTHERN BLOTTING; SPASTICITY; SPINOCEREBELLAR TRACT; TENDON CONTRACTURE;

EXOME SEQUENCING; HOMOZYGOSITY MAPPING; RECESSIVE ATAXIA; SPASTIC ATAXIA;

ADOLESCENT; AGE OF ONSET; BETA-GLUCOSIDASE; CEREBELLAR ATAXIA; CHROMOSOME MAPPING; CONSANGUINITY; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; GENETIC LOCI; GENETIC MARKERS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROSATELLITE REPEATS; MUSCLE SPASTICITY; MUTATION, MISSENSE; OPTIC ATROPHY; PEDIGREE; SPASTIC PARAPLEGIA, HEREDITARY; SPINOCEREBELLAR ATAXIAS; YOUNG ADULT;

EID: 84890816361     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/ahg.12045     Document Type: Article

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