Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

European Journal of Human Genetics

Volumn 24, Issue 4, 2016, Pages 619-622

  Nguyen, Minh ^a,b   Boesten, Iris ^a   Hellebrekers, Debby M E I ^a   Vanoevelen, Jo ^a   Kamps, Rick ^a   De Koning, Bart ^a   De Coo, Irenaeus F M ^c   Gerards, Mike ^a,b   Smeets, Hubert J M ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; HISTIDINE; CELL CYCLE PROTEIN; CWF19-LIKE 1, CELL CYCLE CONTROL (S. POMBE), HUMAN; STOP CODON;

APRAXIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY HEIGHT; BODY WEIGHT; BRAIN SIZE; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CWF19L1 GENE; DUTCHMAN; DYSTONIC DISORDER; EXOME; FEMALE; GENE; GENE SEQUENCE; GENETIC VARIABILITY; HEAD CIRCUMFERENCE; HUMAN; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN FUNCTION; REAL TIME POLYMERASE CHAIN REACTION; RNA EXTRACTION; SEQUENCE ANALYSIS; STOP CODON; STRABISMUS; STRABISMUS SURGERY; TURK (PEOPLE); WALKING; ADULT; CHILD; GENETICS; MALE; MISSENSE MUTATION; PEDIGREE; RECESSIVE GENE;

ADULT; CELL CYCLE PROTEINS; CEREBELLAR ATAXIA; CHILD; CODON, TERMINATOR; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE;

EID: 84960369044     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.158     Document Type: Article

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