An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

Neurology

Volumn 64, Issue 1, 2005, Pages 142-144

  Straussberg, R ^a,j   Basel Vanagaite, L ^a,b   Kivity, S ^a   Dabby, R ^c   Cirak, S ^d   Nurnberg, P ^e   Voit, T ^d   Mahajnah, M ^a   Inbar, D ^a   Saifi, G M ^f   Lupski, J R ^f   Delague, V ^g   Megarbane, A ^g   Richter, A ^h   Leshinsky, E ^c   Berkovic, S F ⁱ  

^a TEL AVIV UNIVERSITY   (Israel)

^b RABIN MEDICAL CENTER   (Israel)

^c WOLFSON MEDICAL CENTER   (Israel)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

^e MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g SAINT JOSEPH UNIVERSITY   (Lebanon)

^h UNIVERSITY OF MONTREAL   (Canada)

ⁱ UNIVERSITY OF MELBOURNE   (Australia)

^j SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLAR ATAXIA; CHROMOSOME 9Q; CLINICAL FEATURE; CONSANGUINITY; DEVELOPMENTAL DISORDER; DYSARTHRIA; GAZE PARALYSIS; GENE MUTATION; GENETIC SCREENING; HUMAN; LINKAGE ANALYSIS; MALE; PRIORITY JOURNAL; REFLEX DISORDER; SCHOOL CHILD; SENSORY NEUROPATHY; TONIC CLONIC SEIZURE;

EID: 19944429457     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000148600.60470.E6     Document Type: Article

References (10)

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