Chorea-acanthocytosis genotype in the original Critchley Kentucky neuroacanthocytosis kindred

Archives of Neurology

Volumn 68, Issue 10, 2011, Pages 1328-1331

  Velayos Baeza, Antonio ^a   Holinski Feder, Elke ^c   Neitzel, Birgit ^c   Bader, Benedikt ^d   Critchley, Edmund M R ^b   Monaco, Anthony P ^a   Danek, Adrian ^d   Walker, Ruth H ^e,f  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF CENTRAL LANCASHIRE   (United Kingdom)

^c Medizinisch Genetisches Zentrum   (Germany)

^d UNIVERSITY OF MUNICH   (Germany)

^e VETERANS AFFAIRS MEDICAL CENTER   (United States)

^f MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; AREFLEXIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASAL GANGLION; BRAIN ATROPHY; CHOREA; CHOREA-ACANTHOCYTOSIS; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA FLANKING REGION; DYSARTHRIA; DYSPHAGIA; DYSTONIA; EXON; FEMALE; GENE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INTRON; MALE; MUSCLE HYPOTONIA; NEUROACANTHOCYTOSIS; NONSENSE MUTATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SENSORY NEUROPATHY; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED STATES; VPS13A GENE; WEIGHT REDUCTION; FAMILY HEALTH; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; MUTATION; NUCLEOTIDE SEQUENCE; BASAL GANGLIA ATROPHY; BITE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; FAMILY STUDY; GENE IDENTIFICATION; GENETIC SCREENING; HETEROZYGOSITY; MUTATIONAL ANALYSIS; PEDIGREE; TONGUE BITING;

VESICULAR TRANSPORT PROTEIN; VPS13A PROTEIN, HUMAN;

DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; KENTUCKY; MALE; MUTATION; NEUROACANTHOCYTOSIS; VESICULAR TRANSPORT PROTEINS;

EID: 84856369544     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.239     Document Type: Article

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