Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey

JAMA Neurology

Volumn 70, Issue 4, 2013, Pages 481-487

  Loureiro, José Leal ^a   Brandão, Eva ^a   Ruano, Luis ^a   Brandão, Ana F ^b   Lopes, Ana M ^b   Thieleke Matos, Carolina ^b   Miller Fleming, Leonor ^b   Cruz, Vitor T ^a   Barbosa, Mafalda ^c,e   Silveira, Isabel ^b   Stevanin, Giovanni ^f,g   Pinto Basto, Jorge ^b,d   Sequeiros, Jorge ^b,d   Alonso, Isabel ^b,d   Coutinho, Paula ^a,b  

^a Centro Hospitalar Entre Douro e Vouga   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c NATIONAL INSTITUTE OF HEALTH   (Portugal)

^d UNIVERSITY OF PORTO   (Portugal)

^e INSTITUTO GULBENKIAN DE CIÊNCIA   (Portugal)

^f INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; ATAXIA; AUTOSOMAL DOMINANT HEREDITARY SPASTIC PARAPLEGIA; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; ETHNIC GROUP; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MUTATOR GENE; NONSENSE MUTATION; ONSET AGE; PORTUGUESE; PREDICTION; PREVALENCE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SPASTIC PARAPLEGIA; SPG3 GENE; SPG31 GENE; SPG4 GENE; SYSTEMATIC REVIEW;

EID: 84876133160     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.1956     Document Type: Article

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