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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Murakami, Yoshiko; Nguyen, Thi Tuyet Mai; Baratang, Nissan; Raju, Praveen K; Knaus, Alexej; Ellard, Sian; Jones, Gabriela; Lace, Baiba; Rousseau, Justine; Ajeawung, Norbert Fonya; Kamei, Atsushi; Minase, Gaku; Akasaka, Manami; Araya, Nami; Koshimizu, Eriko; van den Ende, Jenneke; Erger, Florian; Altmüller, Janine; Krumina, Zita; Strautmanis, Jurgis; Inashkina, Inna; Stavusis, Janis; El-Gharbawy, Areeg; Sebastian, Jessica; Puri, Ratna Dua; Kulshrestha, Samarth; Verma, Ishwar C; Maier, Esther M; Haack, Tobias B; Israni, Anil; Baptista, Julia; Gunning, Adam; Rosenfeld, Jill A; Liu, Pengfei; Joosten, Marieke; Rocha, María Eugenia; Hashem, Mais O; Aldhalaan, Hesham M; Alkuraya, Fowzan S; Miyatake, Satoko; Matsumoto, Naomichi; Krawitz, Peter M; Rossignol, Elsa; Kinoshita, Taroh; Campeau, Philippe M.
Afiliación
  • Murakami Y; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka 565-0871, Japan.
  • Nguyen TTM; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.
  • Baratang N; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.
  • Raju PK; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.
  • Knaus A; Insitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, 53127 Bonn, Germany.
  • Ellard S; Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
  • Jones G; Clinical Genetics Department, Nottingham University Hospitals NHS Trust, Nottingham NGS 1PB, UK.
  • Lace B; Centre Hospitalier Universitaire de Québec, 2705 Boulevard Laurier, Ville de Québec, QC G1V 4G2, Canada.
  • Rousseau J; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.
  • Ajeawung NF; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.
  • Kamei A; Department of Pediatrics, School of Medicine, Iwate Medical University, Morioka, Iwate 020-8505, Japan.
  • Minase G; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
  • Akasaka M; Department of Pediatrics, School of Medicine, Iwate Medical University, Morioka, Iwate 020-8505, Japan.
  • Araya N; Department of Pediatrics, School of Medicine, Iwate Medical University, Morioka, Iwate 020-8505, Japan.
  • Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
  • van den Ende J; Centrum Medische Genetica Antwerpen, 2650 EDEGEM, Belgium.
  • Erger F; Institute of Human Genetics, University Hospital of Cologne, and Center for Molecular Medicine, University of Cologne, 50931 Cologne, Germany.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
  • Krumina Z; Deparment of Biology and Microbiology, Riga Stradins University, Riga, LV-1029, Latvia.
  • Strautmanis J; Children's Clinical University Hospital, Riga, LV-1004, Latvia.
  • Inashkina I; Latvian Biomedical Research and Study Centre, Ratsupites Str. 1 k-1, Riga LV-1067, Latvia.
  • Stavusis J; Latvian Biomedical Research and Study Centre, Ratsupites Str. 1 k-1, Riga LV-1067, Latvia.
  • El-Gharbawy A; Department of Medical Genetics, Children's Hospital of Pittsburgh of University Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.
  • Sebastian J; Department of Medical Genetics, Children's Hospital of Pittsburgh of University Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.
  • Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi 110060, India.
  • Kulshrestha S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi 110060, India.
  • Verma IC; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi 110060, India.
  • Maier EM; Department of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, 80337 Munich, Germany.
  • Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72074 Tübingen, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Israni A; Department of Paediatric Neurology, Leicester Royal Infirmary, Leicester LE1 5WW, UK.
  • Baptista J; Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
  • Gunning A; Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Joosten M; Dept of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, the Netherlands.
  • Rocha ME; CENTOGENE AG, The Rare Disease Company, 18055 Rostock, Germany.
  • Hashem MO; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Aldhalaan HM; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
  • Krawitz PM; Insitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, 53127 Bonn, Germany.
  • Rossignol E; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Neurosciences, Centre Hospitalier Universitaire Sainte-Justine and University of Montr
  • Kinoshita T; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka 565-0871, Japan. Electronic address: tkinoshi@biken.osaka-u.ac.jp.
  • Campeau PM; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address: p.campeau@umontreal.ca.
Am J Hum Genet ; 105(2): 384-394, 2019 08 01.
Article en En | MEDLINE | ID: mdl-31256876
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Convulsiones / Deformidades Congénitas de la Mano / Glicosilfosfatidilinositoles / Enfermedades del Sistema Nervioso Periférico / Anomalías Craneofaciales / Pérdida Auditiva Sensorineural / Manosiltransferasas / Discapacidad Intelectual / Enfermedades Metabólicas / Mutación Límite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Convulsiones / Deformidades Congénitas de la Mano / Glicosilfosfatidilinositoles / Enfermedades del Sistema Nervioso Periférico / Anomalías Craneofaciales / Pérdida Auditiva Sensorineural / Manosiltransferasas / Discapacidad Intelectual / Enfermedades Metabólicas / Mutación Límite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos