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Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2.
Fiorillo, C; Moro, F; Brisca, G; Accogli, A; Trucco, F; Trovato, R; Pedemonte, M; Severino, M; Catala, M; Capra, V; Santorelli, F M; Bruno, C; Rossi, A; Minetti, C.
Afiliação
  • Fiorillo C; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Moro F; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Brisca G; Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genoa, Italy.
  • Accogli A; Neurosurgery Unit, Istituto Giannina Gaslini, Genoa, Italy.
  • Trucco F; Paediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genoa, Italy.
  • Trovato R; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Pedemonte M; Paediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genoa, Italy.
  • Severino M; Paediatric Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy.
  • Catala M; Fédération de Neurologie, Groupe Hospitalier Pitié-Salpêtrière, and UMR 7622 UPMC and CNRS, Université Pierre et Marie Curie, Paris, France.
  • Capra V; Neurosurgery Unit, Istituto Giannina Gaslini, Genoa, Italy.
  • Santorelli FM; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Bruno C; Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genoa, Italy.
  • Rossi A; Paediatric Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy.
  • Minetti C; Paediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genoa, Italy.
Eur J Neurol ; 23(4): e19-21, 2016 Apr.
Article em En | MEDLINE | ID: mdl-27000979

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Eur J Neurol Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Eur J Neurol Ano de publicação: 2016 Tipo de documento: Article