Clinical course of two italian siblings with ataxia-telangiectasia-like disorder

Cerebellum

Volumn 12, Issue 4, 2013, Pages 596-599

  Palmeri, Silvia ^a,b   Rufa, Alessandra ^a   Pucci, Barbara ^a   Santarnecchi, Emiliano ^a   Malandrini, Alessandro ^a   Laura Stromillo, Maria ^a   Mandalà, Marco ^a   Rosini, Francesca ^a   De Stefano, Nicola ^a   Federico, Antonio ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

Ataxia telangiectasia like disorder; ATLD; Autosomal recessive ataxia; Mre11 mutation; Ocular apraxia

Indexed keywords

ADOLESCENT; ADULT; APRAXIA; ARTICLE; ATAXIA TELANGIECTASIA LIKE DISORDER; ATAXIC GAIT; BRAIN SIZE; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CEREBELLUM VERMIS; CHILD; CONTROLLED STUDY; DEMYELINATION; DISEASE COURSE; DYSARTHRIA; ETHNIC GROUP; FACIAL EXPRESSION; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPERSALIVATION; IMMUNOREACTIVITY; INTELLIGENCE QUOTIENT; ITALIAN; JOINT LAXITY; LATENT PERIOD; MALE; MIDDLE AGED; MINI MENTAL STATE EXAMINATION; MRE11 GENE; MUSCLE HYPOTONIA; NERVE BIOPSY; NERVE FIBER DEGENERATION; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRESCHOOL CHILD; PRIORITY JOURNAL; QUALITY OF LIFE; SCHOOL CHILD; SIBLING; STOP CODON; SYMPTOMATOLOGY; UNSTEADINESS;

EID: 84892371000     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-013-0460-4     Document Type: Article

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