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Volumn 68, Issue 9, 2011, Pages 1191-1194

Hypomyelination and congenital cataract: Broadening the clinical phenotype

(16) Biancheri, Roberta a Zara, Federico a Rossi, Andrea a Mathot, Mikael b Nassogne, Marie Cecile b Yalcinkaya, Cengiz c Erturk, Ozdem c Tuysuz, Behyan c Di Rocco, Maja a Gazzerro, Elisabetta a Bugiani, Marianna d Van Spaendonk, Resie d Sistermans, Erik A d Minetti, Carlo a Van Der Knaap, Marjo S d Wolf, Nicole I d

a G GASLINI INSTITUTE (Italy)

b CLINIQUES UNIVERSITAIRES SAINT LUC (Belgium)

c ISTANBUL UNIVERSITY (Turkey)

d VU UNIVERSITY MEDICAL CENTER (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CATARACT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EYE SURGERY; FAM126A; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPOMYELINATION AND CONGENITAL CATARACT; HYPOTHALAMUS PERIVENTRICULAR NUCLEUS; IMAGE ANALYSIS; INFANT; MENTAL DEFICIENCY; MUSCLE ATROPHY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NERVE CONDUCTION; NEUROIMAGING; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PERIPHERAL NEUROPATHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRAMIDAL TRACT; REMISSION; SCHOOL CHILD; WALKING; WHITE MATTER;

CATARACT; CHILD, PRESCHOOL; DEMYELINATING DISEASES; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

EID: 80052702127 PISSN: 00039942 EISSN: 15383687 Source Type: Journal
DOI: 10.1001/archneurol.2011.201 Document Type: Article

Times cited : (23)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.