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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese, Andrea; Zhu, Yi; Rebelo, Adriana P; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J; Bai, Yunhong; Bis-Brewer, Dana M; Bugiardini, Enrico; Buglo, Elena; Danzi, Matt C; Feely, Shawna M E; Athanasiou-Fragkouli, Alkyoni; Haridy, Nourelhoda A; Isasi, Rosario; Khan, Alaa; Laurà, Matilde; Magri, Stefania; Pipis, Menelaos; Pisciotta, Chiara; Powell, Eric; Rossor, Alexander M; Saveri, Paola; Sowden, Janet E; Tozza, Stefano; Vandrovcova, Jana; Dallman, Julia; Grignani, Elena; Marchioni, Enrico; Scherer, Steven S; Tang, Beisha; Lin, Zhiqiang; Al-Ajmi, Abdullah; Schüle, Rebecca; Synofzik, Matthis; Maisonobe, Thierry; Stojkovic, Tanya; Auer-Grumbach, Michaela; Abdelhamed, Mohamed A; Hamed, Sherifa A; Zhang, Ruxu; Manganelli, Fiore; Santoro, Lucio; Taroni, Franco; Pareyson, Davide; Houlden, Henry; Herrmann, David N; Reilly, Mary M; Shy, Michael E.
Afiliación
  • Cortese A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA. andrea.cortese@ucl.ac.uk.
  • Zhu Y; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK. andrea.cortese@ucl.ac.uk.
  • Rebelo AP; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. andrea.cortese@ucl.ac.uk.
  • Negri S; Department of Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Courel S; Program in Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Abreu L; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Bacon CJ; Istituiti Clinici Scientifici Maugeri IRCCS, Environmental Research Center, Pavia, Italy.
  • Bai Y; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Bis-Brewer DM; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Bugiardini E; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
  • Buglo E; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
  • Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Feely SME; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
  • Athanasiou-Fragkouli A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Haridy NA; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Isasi R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
  • Khan A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
  • Laurà M; Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University Hospital, Assiut, Egypt.
  • Pipis M; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Pisciotta C; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
  • Powell E; Molecular Diagnostic Unit, Clinical Laboratory Department, King Abdullah Medical City in Makkah, Mecca, Saudi Arabia.
  • Rossor AM; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
  • Saveri P; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Sowden JE; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
  • Tozza S; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Vandrovcova J; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Dallman J; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
  • Grignani E; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Marchioni E; Department of Neurology, University of Rochester, Rochester, NY, USA.
  • Scherer SS; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples "Federico II", Naples, Italy.
  • Tang B; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
  • Lin Z; Department of Biology, University of Miami, Coral Gables, FL, USA.
  • Al-Ajmi A; Istituiti Clinici Scientifici Maugeri IRCCS, Environmental Research Center, Pavia, Italy.
  • Schüle R; IRCCS Mondino Foundation, Pavia, Italy.
  • Synofzik M; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Maisonobe T; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Stojkovic T; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Auer-Grumbach M; Division of Neurology, Department of Medicine, Al-Jahra Hospital, Al-Jahra, Kuwait.
  • Abdelhamed MA; Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Tübingen, Germany.
  • Hamed SA; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Zhang R; Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, and Center for Neurology, University of Tübingen, Tübingen, Germany.
  • Manganelli F; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Santoro L; Department of Neurophysiology, AP-HP, Sorbonne Université, Hôpital Pitié Salpêtrière, Paris, France.
  • Taroni F; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, AP-HP, Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.
  • Pareyson D; Department of Orthopaedics and Traumatology, Medical University of Vienna, Vienna, Austria.
  • Houlden H; Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University Hospital, Assiut, Egypt.
  • Herrmann DN; Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University Hospital, Assiut, Egypt.
  • Reilly MM; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Shy ME; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples "Federico II", Naples, Italy.
Nat Genet ; 52(5): 473-481, 2020 05.
Article en En | MEDLINE | ID: mdl-32367058
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos