Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families

Neuropediatrics

Volumn 32, Issue 3, 2001, Pages 142-146

  Gucuyener K ^a   Ozgul K ^a   Paternotte, C ^a   Erdem, H ^a   Prud'homme, J F ^a   Ozguc M ^a   Topaloglu H ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Charlevoix saguenay ataxia; Genetic locus; Hereditary spastic ataxia

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLUM ATROPHY; CHARLEVOIX SAGUENAY SYNDROME; CHROMOSOME 13Q; CLINICAL FEATURE; EYE FUNDUS; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; INTELLIGENCE; MALE; MYELINATED NERVE; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PRIORITY JOURNAL; SPASTICITY; TURKEY (REPUBLIC);

ADOLESCENT; ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CONSANGUINITY; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; HEAT-SHOCK PROTEINS; HUMANS; MALE; NEUROLOGIC EXAMINATION; PEDIGREE; SPASTIC PARAPLEGIA, HEREDITARY; SPINOCEREBELLAR ATAXIAS; TURKEY;

EID: 0034880657     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2001-16616     Document Type: Article

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14. Location and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11
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