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Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Kraoua, Ichraf; Karkar, Adnane; Drissi, Cyrine; Benrhouma, Hanene; Klaa, Hedia; Samaan, Simon; Renaldo, Florence; Elmaleh, Monique; Ben Hamouda, Mohamed; Abdelhak, Sonia; Boespflug-Tanguy, Odile; Ben Youssef-Turki, Ilfghem; Dorboz, Imen.
Afiliação
  • Kraoua I; Department of Child and Adolescent Neurology, LR18SP04, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.
  • Karkar A; Genetics and Molecular Pathology Laboratory, Medical School of Casablanca, Hassan II University, Casablanca, Morocco.
  • Drissi C; INSERM UMR1141, Sorbonne Paris Cité, DHU PROTECT, Paris Diderot University, Robert Debré Hospital, Paris, France.
  • Benrhouma H; Department of Neuroradiology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
  • Klaa H; Department of Child and Adolescent Neurology, LR18SP04, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.
  • Samaan S; Department of Child and Adolescent Neurology, LR18SP04, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.
  • Renaldo F; Molecular Biology, Genetic Department, Robert Debré Hospital, Paris, France.
  • Elmaleh M; INSERM UMR1141, Sorbonne Paris Cité, DHU PROTECT, Paris Diderot University, Robert Debré Hospital, Paris, France.
  • Ben Hamouda M; Department of Neuropediatrics and Metabolic Diseases, Reference Center for Leukodystrophies, Robert Debré Hospital, AP-HP, Paris, France.
  • Abdelhak S; Pediatric Radiology, Robert Debré Hospital, Paris, France.
  • Boespflug-Tanguy O; Department of Neuroradiology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
  • Ben Youssef-Turki I; Laboratory of Biomedical Genomics and Oncogenetics, LR11IPT05, Pasteur Institute of Tunisia, University of Tunis El Manar, Tunis, Tunisia.
  • Dorboz I; INSERM UMR1141, Sorbonne Paris Cité, DHU PROTECT, Paris Diderot University, Robert Debré Hospital, Paris, France.
Mol Genet Genomic Med ; 7(9): e914, 2019 09.
Article em En | MEDLINE | ID: mdl-31368241
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: RNA Polimerase III / RNA Polimerases Dirigidas por DNA / Substância Negra / Imageamento por Ressonância Magnética / Núcleo Subtalâmico / Encefalopatias Metabólicas Congênitas / Distúrbios Distônicos Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Tunísia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: RNA Polimerase III / RNA Polimerases Dirigidas por DNA / Substância Negra / Imageamento por Ressonância Magnética / Núcleo Subtalâmico / Encefalopatias Metabólicas Congênitas / Distúrbios Distônicos Tipo de estudo: Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Tunísia