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Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.
Lorea, Cláudia Fernandes; Tenório, Renata Barreto; Koenig, Michel; Huebner, Angela; Koehler, Katrin; Devos, David; Guissart, Claire; Saute, Jonas Alex Morales.
Affiliation
  • Lorea CF; Hospital Escola da Universidade Federal de Pelotas, Pelotas, RS, Brazil.
  • Tenório RB; Medical Genetics Division, Hospital de Clínicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Porto Alegre, RS, Zip Code 90.035-903, Brazil.
  • Koenig M; Medical Genetics Division, Hospital de Clínicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Porto Alegre, RS, Zip Code 90.035-903, Brazil.
  • Huebner A; Laboratoire de Génétique de Maladies Rares EA7402, Institut Universitaire de Recherche Clinique, Université de Montpellier, Montpellier, France.
  • Koehler K; Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Devos D; Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Guissart C; Pole de Neurologie Department of Neurology and Movement Disorders, Université Lille Nord De France, Université de Médecine, XEA 5947, IMPRT, CHU, 59037, Lille, France.
  • Saute JAM; Département de Génétique et Cytogénétique GHU Pitié-Salpêtrière, CNRS UMR7225, Inserm U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, GHU Pitié-Salpêtrière France, Université Pierre et Marie Curie - Univ Paris 6, APHP, 75651, Paris, France.
Cerebellum ; 19(3): 465-468, 2020 Jun.
Article in En | MEDLINE | ID: mdl-32146693
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Optic Atrophy / Spinocerebellar Ataxias / Nuclear Pore Complex Proteins / Intellectual Disability / Muscle Spasticity / Nerve Tissue Proteins Type of study: Risk_factors_studies Limits: Adult / Female / Humans / Male Country/Region as subject: Africa / America do sul / Brasil Language: En Journal: Cerebellum Journal subject: CEREBRO Year: 2020 Document type: Article Affiliation country: Brazil Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Optic Atrophy / Spinocerebellar Ataxias / Nuclear Pore Complex Proteins / Intellectual Disability / Muscle Spasticity / Nerve Tissue Proteins Type of study: Risk_factors_studies Limits: Adult / Female / Humans / Male Country/Region as subject: Africa / America do sul / Brasil Language: En Journal: Cerebellum Journal subject: CEREBRO Year: 2020 Document type: Article Affiliation country: Brazil Country of publication: United States