'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization

Brain

Volumn 135, Issue 5, 2012, Pages 1423-1435

  García Murias, María ^a,b   Quintáns, Beatriz ^a,c   Arias, Manuel ^a   Seixas, Ana I ^d   Cacheiro, Pilar ^b   Tarrío, Rosa ^b,c   Pardo, Julio ^a   Millán, María J ^a   Arias Rivas, Susana ^a   Blanco Arias, Patricia ^a,c   Dapena, Dolores ^a   Moreira, Ramón ^e   Rodríguez Trelles, Francisco ^f   Sequeiros, Jorge ^d,g   Carracedo, Ángel ^a,b,c   Silveira, Isabel ^d   Sobrido, María J ^a,c  

^a Instituto de Salud Carlos III   (Spain)

^b UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d UNIVERSITY OF PORTO   (Portugal)

^e Galician Ataxia Association (AGA)   (Spain)

^f UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^g UNIVERSITY OF PORTO   (Portugal)

Author keywords

expansion mutation; founder effect; Galicia; NOP56; spinocerebellar ataxia

Indexed keywords

NOP56 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BABINSKI REFLEX; BLURRED VISION; CEREBELLUM ATROPHY; CEREBELLUM VERMIS; CHROMOSOME 20P; CONTROLLED STUDY; DENERVATION; DISEASE COURSE; DISEASE TRANSMISSION; DIZZINESS; EVOKED SOMATOSENSORY RESPONSE; EXTRAPYRAMIDAL SYMPTOM; EYE MOVEMENT DISORDER; FEMALE; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDULLA OBLONGATA; MUSCLE CONTRACTION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PONS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTIC PARAPLEGIA; SPINOCEREBELLAR DEGENERATION; TONGUE; VERTIGO;

EID: 84860608331     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws069     Document Type: Article

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