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TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
Tonduti, Davide; Aiello, Chiara; Renaldo, Florence; Dorboz, Imen; Saaman, Simon; Rodriguez, Diana; Fettah, Houda; Elmaleh, Monique; Biancheri, Roberta; Barresi, Sabina; Boccone, Loredana; Orcesi, Simona; Pichiecchio, Anna; Zangaglia, Roberta; Maurey, Hélène; Rossi, Andrea; Boespflug-Tanguy, Odile; Bertini, Enrico.
Afiliación
  • Tonduti D; Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS, Milan, Italy; INSERM UMR1141, Paris Diderot University, Sorbonne Paris Cité, DHU PROTECT, France. Electronic address: davidetondu@hotmail.com.
  • Aiello C; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
  • Renaldo F; INSERM UMR1141, Paris Diderot University, Sorbonne Paris Cité, DHU PROTECT, France; AP-HP, Departement of Neuropediatrics and Metabolic Diseases, National Reference Center for Leukodystrophies, Robert Debré Hospital, Paris, France.
  • Dorboz I; INSERM UMR1141, Paris Diderot University, Sorbonne Paris Cité, DHU PROTECT, France.
  • Saaman S; AP-HP, Department of Human Genetic, Molecular Biology Unit, Robert Debré Hospital, Paris, France.
  • Rodriguez D; INSERM UMR1141, Paris Diderot University, Sorbonne Paris Cité, DHU PROTECT, France; AP-HP, Department of Child Neurology, Hôpital Armand-Trousseau, GHUEP, Paris, France.
  • Fettah H; AP-HP, Departement of Neuropediatrics and Metabolic Diseases, National Reference Center for Leukodystrophies, Robert Debré Hospital, Paris, France; INSERM UMR1141, Paris Diderot University, Sorbonne Paris Cité, DHU PROTECT, France.
  • Elmaleh M; AP-HP, Department of Child Radiology, Paris, France.
  • Biancheri R; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, UK.
  • Barresi S; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
  • Boccone L; Genetics and Rare Diseases Unit, II Division of Pediatrics, Ospedale Microcitemico, Cagliari, Italy.
  • Orcesi S; Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.
  • Pichiecchio A; Department of Neuroradiology, C. Mondino National Neurological Institute, Pavia, Italy.
  • Zangaglia R; Movement Disorders Unit, C. Mondino National Neurological Institute, Pavia, Italy.
  • Maurey H; AP-HP, Neuropediatric Departement, Reference Center for Leukodystrophies Kremlin Bicêtre Hospital, Paris, France.
  • Rossi A; Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS, Milan, Italy.
  • Boespflug-Tanguy O; INSERM UMR1141, Paris Diderot University, Sorbonne Paris Cité, DHU PROTECT, France; AP-HP, Departement of Neuropediatrics and Metabolic Diseases, National Reference Center for Leukodystrophies, Robert Debré Hospital, Paris, France.
  • Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
Eur J Paediatr Neurol ; 20(2): 323-330, 2016 Mar.
Article en En | MEDLINE | ID: mdl-26643067
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tubulina (Proteína) / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2016 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tubulina (Proteína) / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2016 Tipo del documento: Article