Hypomyelination with atrophy of the basal ganglia and cerebellum: Further delineation of the phenotype and genotype-phenotype correlation

Brain

Volumn 137, Issue 7, 2014, Pages 1921-1930

  Hamilton, Eline M ^a   Polder, Emiel ^a   Vanderver, Adeline ^b   Naidu, Sakkubai ^c   Schiffmann, Raphael ^d   Fisher, Kate ^e   Raguž, Ana Boban ^f   Blumkin, Luba ^g   Van Berkel, Carola G M ^a   Waisfisz, Quinten ^a   Simons, Cas ^h   Taft, Ryan J ^h   Abbink, Truus E M ^a   Wolf, Nicole I ^a   Van Der Knaap, Marjo S ^a,i  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^e UK   (United Kingdom)

^f Clinical Hospital Mostar   (Bosnia and Herzegovina)

^g E Wolfson Medical Centre   (Israel)

^h UNIVERSITY OF QUEENSLAND   (Australia)

ⁱ VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

genotype phenotype correlation; H ABC; hypomyelination; MRI pattern; TUBB4A

Indexed keywords

BETA TUBULIN; TUBULIN BETA 4A; UNCLASSIFIED DRUG; DNA; MYELIN;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; BASAL GANGLION; CEREBELLUM; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; DISEASE COURSE; EPILEPSY; EXTRAPYRAMIDAL SYNDROME; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM; LEUKOENCEPHALOPATHY; MALE; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SPASTICITY; BRAIN ATROPHY; CHILDHOOD DISEASE; CLINICAL FEATURE; DEMYELINATION; DEVELOPMENTAL DISORDER; EXTRAPYRAMIDAL SYMPTOM; HETEROZYGOTE; LEUKODYSTROPHY HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM SYNDROME; MAJOR CLINICAL STUDY; MORTALITY; MOTHER; NEUROIMAGING; NUCLEOTIDE SEQUENCE; PROTEIN DOMAIN; PUTAMEN; RARE DISEASE;

GENOTYPE-PHENOTYPE CORRELATION; H-ABC; HYPOMYELINATION; MRI PATTERN; TUBB4A;

ADOLESCENT; AGE FACTORS; ATROPHY; BASAL GANGLIA; CEREBELLUM; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; TUBULIN; YOUNG ADULT;

EID: 84903532539     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu110     Document Type: Article

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