NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening

Journal of Neurology

Volumn 262, Issue 11, 2015, Pages 2557-2563

  Synofzik, Matthis ^a,b   Harmuth, Florian ^b   Stampfer, Miriam ^b   Müller vom Hagen, Jennifer ^a,b   Schöls, Ludger ^a,b   Bauer, Peter ^b  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Ataxia; Early onset ataxia; Genetics; Lysosomal storage diseases; Prevalence; Recessive ataxia

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATAXIA; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; EARLY ONSET ATAXIA; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; HIGH RISK POPULATION; HIGH THROUGHPUT SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATION RATE; NIEMANN PICK DISEASE; NPC1 GENE; NPC2 GENE; PRIORITY JOURNAL; EUROPE; GENETIC SCREENING; GENETICS; ONSET AGE;

CARRIER PROTEIN; GLYCOPROTEIN; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN; NPC2 PROTEIN, HUMAN;

ADULT; AGE OF ONSET; ATAXIA; CARRIER PROTEINS; EUROPE; GENETIC TESTING; GLYCOPROTEINS; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; MEMBRANE GLYCOPROTEINS; NIEMANN-PICK DISEASE, TYPE C;

EID: 84956779749     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-015-7889-y     Document Type: Article

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