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Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
Hufnagel, Robert B; Arno, Gavin; Hein, Nichole D; Hersheson, Joshua; Prasad, Megana; Anderson, Yvonne; Krueger, Laura A; Gregory, Louise C; Stoetzel, Corinne; Jaworek, Thomas J; Hull, Sarah; Li, Abi; Plagnol, Vincent; Willen, Christi M; Morgan, Thomas M; Prows, Cynthia A; Hegde, Rashmi S; Riazuddin, Saima; Grabowski, Gregory A; Richardson, Rudy J; Dieterich, Klaus; Huang, Taosheng; Revesz, Tamas; Martinez-Barbera, J P; Sisk, Robert A; Jefferies, Craig; Houlden, Henry; Dattani, Mehul T; Fink, John K; Dollfus, Helene; Moore, Anthony T; Ahmed, Zubair M.
Afiliação
  • Hufnagel RB; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Arno G; UCL Institute of Ophthalmology and Moorfields Eye Hospital, London, UK.
  • Hein ND; Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
  • Hersheson J; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • Prasad M; Laboratoire de génétique Médicale, Université de Strasbourg, FMTS, Strasbourg, France.
  • Anderson Y; Department of Paediatrics, Taranaki Base Hospital, New Plymouth, New Zealand Liggins Institute, University of Auckland, Auckland, New Zealand.
  • Krueger LA; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Gregory LC; Developmental Endocrinology Research Group, Genetics and Epigenetics in Health and Disease Section, Genetics and Genomic Medicine Programme, University College London Institute of Child Health, London, UK.
  • Stoetzel C; Laboratoire de génétique Médicale, Université de Strasbourg, FMTS, Strasbourg, France.
  • Jaworek TJ; Department of Otorhinolaryngology, University of Maryland, Baltimore, Maryland, USA.
  • Hull S; UCL Institute of Ophthalmology and Moorfields Eye Hospital, London, UK.
  • Li A; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • Plagnol V; Department of Statistical Genetics, University College London, London, UK.
  • Willen CM; Department of Pediatric Ophthalmology, University of Kentucky, Lexington, Kentucky, USA.
  • Morgan TM; Department of Pediatrics, Vanderbilt University, Nashville, Tennessee, USA.
  • Prows CA; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Hegde RS; Developmental Biology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Riazuddin S; Department of Otorhinolaryngology, University of Maryland, Baltimore, Maryland, USA.
  • Grabowski GA; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Richardson RJ; Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA Department of Environmental Health Sciences, University of Michigan, Ann Arbor, Michigan, USA.
  • Dieterich K; Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble and Grenoble Institut des Neurosciences, Equipe Muscle et Pathologie, Grenoble, France.
  • Huang T; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • Revesz T; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • Martinez-Barbera JP; Developmental Endocrinology Research Group, Genetics and Epigenetics in Health and Disease Section, Genetics and Genomic Medicine Programme, University College London Institute of Child Health, London, UK.
  • Sisk RA; Division of Pediatric Ophthalmology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA Cincinnati Eye Institute, Cincinnati, Ohio, USA.
  • Jefferies C; Department of Paediatric Endocrinology, Starship Children's Hospital, Auckland, New Zealand.
  • Houlden H; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • Dattani MT; Developmental Endocrinology Research Group, Genetics and Epigenetics in Health and Disease Section, Genetics and Genomic Medicine Programme, University College London Institute of Child Health, London, UK.
  • Fink JK; Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
  • Dollfus H; Laboratoire de génétique Médicale, Université de Strasbourg, FMTS, Strasbourg, France Centre de référence pour les Affections Rares Ophtalmologiques CARGO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Moore AT; UCL Institute of Ophthalmology and Moorfields Eye Hospital, London, UK.
  • Ahmed ZM; Department of Otorhinolaryngology, University of Maryland, Baltimore, Maryland, USA.
J Med Genet ; 52(2): 85-94, 2015 Feb.
Article em En | MEDLINE | ID: mdl-25480986
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Blefaroptose / Hidrolases de Éster Carboxílico / Retinose Pigmentar / Predisposição Genética para Doença / Nanismo / Hipertricose / Síndrome de Laurence-Moon / Deficiência Intelectual Limite: Animals / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Blefaroptose / Hidrolases de Éster Carboxílico / Retinose Pigmentar / Predisposição Genética para Doença / Nanismo / Hipertricose / Síndrome de Laurence-Moon / Deficiência Intelectual Limite: Animals / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos