An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss

Neurogenetics

Volumn 10, Issue 2, 2009, Pages 151-155

  Terracciano, Alessandra ^a   Casali, Carlo ^b   Grieco, Gaetano S ^c   Orteschi, Daniela ^d   Di Giandomenico, Silvia ^a   Seminara, Laura ^d   Di Fabio, Roberto ^b   Carrozzo, Rosalba ^a   Simonati, Alessandro ^e   Stevanin, Giovanni ^f   Zollino, Marcella ^d   Santorelli, Filippo M ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e UNIVERSITY OF VERONA   (Italy)

^f INSERM   (France)

Author keywords

Array CGH; ARSACS; Chromosomal deletion

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLAR ATAXIA; CLINICAL FEATURE; DISEASE ASSOCIATION; DYSARTHRIA; FEMALE; GAIT DISORDER; GENE DELETION; GENE REARRANGEMENT; HEARING LOSS; HUMAN; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SPASTIC ATAXIA OF CHARLEVOIX SAGUENAY;

EID: 64149131950     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0159-8     Document Type: Article

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