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Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
Dorboz, Imen; Aiello, Chiara; Simons, Cas; Stone, Robert Thompson; Niceta, Marcello; Elmaleh, Monique; Abuawad, Mohammad; Doummar, Diane; Bruselles, Alessandro; Wolf, Nicole I; Travaglini, Lorena; Boespflug-Tanguy, Odile; Tartaglia, Marco; Vanderver, Adeline; Rodriguez, Diana; Bertini, Enrico.
Afiliação
  • Dorboz I; INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France, Paris 06, Paris, France.
  • Aiello C; Unit of Neuromuscular and Neurodegnerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Hospital, Rome, Italy.
  • Simons C; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
  • Stone RT; Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD, 4072, Australia.
  • Niceta M; Pediatric Multiple Sclerosis and Neuroimmunology Program, University of Rochester, Rochester, USA.
  • Elmaleh M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
  • Abuawad M; AP-HP, Department of Child Radiology, Robert Debré Hospital, Paris, France.
  • Doummar D; INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France, Paris 06, Paris, France.
  • Bruselles A; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France.
  • Wolf NI; GRC ConCer-LD, Sorbonne Universités, UPMC Université, Paris, France.
  • Travaglini L; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Boespflug-Tanguy O; Department of Child Neurology, VU University Medical Center, Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Tartaglia M; Unit of Neuromuscular and Neurodegnerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Hospital, Rome, Italy.
  • Vanderver A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
  • Rodriguez D; INSERM UMR 1141, DHU PROTECT, Paris Diderot University, Sorbonne Paris Cité, France, Paris 06, Paris, France.
  • Bertini E; AP-HP, Department of Neuropediatrics and Metabolic Diseases, National Reference Center for Leukodystrophies, Robert Debré Hospital, Paris, France.
Brain ; 140(10): 2550-2556, 2017 Oct 01.
Article em En | MEDLINE | ID: mdl-28969374
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genes Homeobox / Proteínas de Homeodomínio / Leucoencefalopatias / Mutação Idioma: En Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genes Homeobox / Proteínas de Homeodomínio / Leucoencefalopatias / Mutação Idioma: En Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França