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A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
Viollet, Louis M; Swoboda, Kathryn J; Mao, Rong; Best, Hunter; Ha, Youna; Toutain, Annick; Guyant-Marechal, Lucie; Laroche-Raynaud, Cecile; Ghorab, Karima; Barthez, Marie Anne; Pedespan, Jean Michel; Hernandorena, Xavier; Lia, Anne-Sophie; Deleuze, Jean-Francois; Masson, Cecile; Nelson, Isabelle; Nectoux, Juliette; Si, Yue.
Afiliación
  • Viollet LM; Pediatric Motor Disorders Research Program and Department of Medical Genetics/Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA. Electronic address: louis.viollet@hsc.utah.edu.
  • Swoboda KJ; Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City, UT and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. Electronic address: KSWOBODA@mgh.harvard.edu.
  • Mao R; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories and Departments of Pathology and Medical Genetics/Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA. Electronic address: rong.mao@aruplab.com.
  • Best H; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories and Departments of Pathology and Medical Genetics/Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA. Electronic address: hunter.best@aruplab.com.
  • Ha Y; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA. Electronic address: youna.ha@aruplab.com.
  • Toutain A; Génétique Clinique, Hopital Bretonneau, Tours, France. Electronic address: annick.toutain@univ-tours.fr.
  • Guyant-Marechal L; Genetique Clinique, Hopital Charles Nicolle, Rouen, France. Electronic address: Lucie.Guyant@chu-rouen.fr.
  • Laroche-Raynaud C; Neuropediatrie, Hopital Mere et Enfant, Limoges, France. Electronic address: cecile.laroche@chu-limoges.fr.
  • Ghorab K; Neurologie, Hopital Dupuytren, Limoges, France. Electronic address: karima.ghorab@chu-limoges.fr.
  • Barthez MA; Neuropediatrie, CHU de Tours, Hopital Clocheville, France. Electronic address: ma.barthez@chu-tours.fr.
  • Pedespan JM; Neuropediatrie, Hopital Pellegrin, Bordeaux, France. Electronic address: pedespan@chu-bordeaux.fr.
  • Hernandorena X; Pediatrie, Centre Hospitalier de La Cote Basque, Bayonne, France. Electronic address: xhernandorena001@ch-cotebasque.fr.
  • Lia AS; Biochimie et Genetique Moleculaire, Hopital Dupuytren, Limoges, France. Electronic address: asliabaldini@unilim.fr.
  • Deleuze JF; CEA-CNG, Evry, France. Electronic address: isabelle.laudier@cea.fr.
  • Masson C; Institut Imagine, Hopital Necker Enfants Malades, Paris, France. Electronic address: cecile.masson@gmail.com.
  • Nelson I; Institut de Myologie, Hopital Pitie Salpetriere, France. Electronic address: isabelle.nelson@upmc.fr.
  • Nectoux J; Biochimie et Genetique Moleculaire, Hopital Cochin, Paris, France. Electronic address: juliette.nectoux@aphp.fr.
  • Si Y; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories and Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA; Clinical Genomics Program, GeneDx, MD, USA. Electronic address: ysi@genedx.com.
Eur J Med Genet ; 63(12): 104063, 2020 Dec.
Article en En | MEDLINE | ID: mdl-32947049
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Mutación Missense / Dineínas Citoplasmáticas Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Mutación Missense / Dineínas Citoplasmáticas Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article