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Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Becker, Aurélie; Felici, Charlotte; Lambert, Laëtitia; de Saint Martin, Anne; Abi-Warde, Marie-Thérèse; Schaefer, Elise; Zix, Christian; Zamani, Mina; Sadeghian, Saeid; Zeighami, Jawaher; Seifi, Tahereh; Azizimalamiri, Reza; Shariati, Gholamreza; Galehdari, Hamid; Selig, Mareike; Ding, Can; Duerinckx, Sarah; Pirson, Isabelle; Abramowicz, Marc; Clément, Guillemette; Leheup, Bruno; Jonveaux, Philippe; Lefort, Geneviève; Bronner, Myriam; Renaud, Mathilde; Bonnet, Céline.
Afiliação
  • Becker A; CHRU de Nancy, Laboratoire de Génétique, Inserm U1256, Université de Lorraine, Nancy, France.
  • Felici C; CHRU de Nancy, Laboratoire de Génétique, Inserm U1256, Université de Lorraine, Nancy, France.
  • Lambert L; CHRU de Nancy, Pôle Enfants, Service de Génétique Clinique, Nancy, France.
  • de Saint Martin A; Inserm U1256, Université de Lorraine, Nancy, France.
  • Abi-Warde MT; Hôpital Hautepierre, Centre de référence des épilepsies rares, Strasbourg, France.
  • Schaefer E; Hôpital Hautepierre, Centre de référence des épilepsies rares, Strasbourg, France.
  • Zix C; HôpService de Génétique médicale, institut de Génétique médicale d'Alsace, CHU Strasbourg, Strasbourg, France.
  • Zamani M; Hôpital de Forbach, Pédiatrie, France.
  • Sadeghian S; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
  • Seifi T; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Azizimalamiri R; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
  • Shariati G; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Galehdari H; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
  • Selig M; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Ding C; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.
  • Duerinckx S; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
  • Pirson I; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Abramowicz M; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
  • Clément G; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.
  • Leheup B; IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.
  • Jonveaux P; IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.
  • Lefort G; IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.
  • Bronner M; Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
  • Renaud M; Inserm U1256, Université de Lorraine, Nancy, France.
  • Bonnet C; CHRU de Nancy, Service de neurologie, Nancy, France.
Clin Genet ; 103(3): 346-351, 2023 03.
Article em En | MEDLINE | ID: mdl-36371792
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Epilepsia / Deficiência Intelectual Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Epilepsia / Deficiência Intelectual Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França