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Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.
Puusepp, Sanna; Kovacs-Nagy, Reka; Alhaddad, Bader; Braunisch, Matthias; Hoffmann, Georg F; Kotzaeridou, Urania; Lichvarova, Lucia; Liiv, Mailis; Makowski, Christine; Mandel, Merle; Meitinger, Thomas; Pajusalu, Sander; Rodenburg, Richard J; Safiulina, Dzhamilja; Strom, Tim M; Talvik, Inga; Vaarmann, Annika; Wilson, Callum; Kaasik, Allen; Haack, Tobias B; Õunap, Katrin.
Afiliação
  • Puusepp S; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Kovacs-Nagy R; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Alhaddad B; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Braunisch M; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Hoffmann GF; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Kotzaeridou U; Department of Nephrology, Technische Universität München, Munich, Germany.
  • Lichvarova L; Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.
  • Liiv M; Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.
  • Makowski C; Department of Pharmacology, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
  • Mandel M; Department of Pharmacology, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
  • Meitinger T; Department of Pediatrics, Technical University Munich, Munich, Germany.
  • Pajusalu S; Department of Pharmacology, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
  • Rodenburg RJ; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Safiulina D; Institute of Human Genetics Helmholz-Zentrum München, Munich, Germany.
  • Strom TM; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Talvik I; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Vaarmann A; Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Wilson C; Department of Pharmacology, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
  • Kaasik A; Institute of Human Genetics Helmholz-Zentrum München, Munich, Germany.
  • Haack TB; Tallinn Children's Hospital, Tallinn, Estonia.
  • Õunap K; Department of Pharmacology, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
Eur J Hum Genet ; 26(3): 407-419, 2018 03.
Article em En | MEDLINE | ID: mdl-29343804
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Epilepsia / Dinâmica Mitocondrial / ATPases Associadas a Diversas Atividades Celulares / Microcefalia / Neurônios Limite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Epilepsia / Dinâmica Mitocondrial / ATPases Associadas a Diversas Atividades Celulares / Microcefalia / Neurônios Limite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article