Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

Human Mutation

Volumn 33, Issue 9, 2012, Pages 1315-1323

  Bettencourt, Conceição ^a,b,c   Quintáns, Beatriz ^d,e   Ros, Raquel ^a   Ampuero, Israel ^a   Yáñez, Zuleima ^e   Pascual, Samuel Ignacio ^f   de Yébenes, Justo García ^a,g   Sobrido, María Jesús ^e,h  

^a Fundacion Socio Sanitaria de Castilla La Mancha   (Spain)

^b UNIVERSITY OF PORTO   (Portugal)

^c UNIVERSITY OF THE AZORES   (Portugal)

^d Instituto de Salud Carlos III   (Spain)

^e UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^f HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^g HOSPITAL RAMÓN Y CAJAL   (Spain)

^h Instituto de Investigación Sanitaria de Santiago de Compostela IDIS   (Spain)

Author keywords

Ataxia; Clinical overlap; HSP; Mimicked phenotypes; Molecular diagnosis; SPG; Triplet repeat expansions

Indexed keywords

ATAXIN 1; ATAXIN 3; ATAXIN 7;

ARTICLE; CLINICAL FEATURE; DENTATORUBROPALLIDOLUYSIAN ATROPHY; DISEASE CLASSIFICATION; FRIEDREICH ATAXIA; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC COUNSELING; GENETIC SCREENING; GENETICS; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MACHADO JOSEPH DISEASE; PHENOTYPE; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; SPINOCEREBELLAR DEGENERATION;

ALGORITHMS; DATABASES, GENETIC; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; HUMANS; MUTATION; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PHENOTYPE; REPRESSOR PROTEINS; SPASTIC PARAPLEGIA, HEREDITARY; SPINOCEREBELLAR DEGENERATIONS; TRINUCLEOTIDE REPEATS;

EID: 84865174187     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22148     Document Type: Article

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