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Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Saha, Madhurima; Reddy, Hemakumar M; Salih, Mustafa A; Estrella, Elicia; Jones, Michael D; Mitsuhashi, Satomi; Cho, Kyung-Ah; Suzuki-Hatano, Silveli; Rizzo, Skylar A; Hamad, Muddathir H; Mukhtar, Maowia M; Hamed, Ahlam A; Elseed, Maha A; Lek, Monkol; Valkanas, Elise; MacArthur, Daniel G; Kunkel, Louis M; Pacak, Christina A; Draper, Isabelle; Kang, Peter B.
Affiliation
  • Saha M; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine , Gainesville, Florida.
  • Reddy HM; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine , Gainesville, Florida.
  • Salih MA; Division of Neurology, Department of Pediatrics, King Saud University , Riyadh , Saudi Arabia.
  • Estrella E; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School , Boston, Massachusetts.
  • Jones MD; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine , Gainesville, Florida.
  • Mitsuhashi S; Department of Neurology, Boston Children's Hospital and Harvard Medical School , Boston, Massachusetts.
  • Cho KA; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine , Gainesville, Florida.
  • Suzuki-Hatano S; Department of Pediatrics, University of Florida College of Medicine , Gainesville, Florida.
  • Rizzo SA; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine , Gainesville, Florida.
  • Hamad MH; Division of Neurology, Department of Pediatrics, King Saud University , Riyadh , Saudi Arabia.
  • Mukhtar MM; The Institute of Endemic Diseases, University of Khartoum , Khartoum , Sudan.
  • Hamed AA; Department of Paediatrics and Child Health, Faculty of Medicine, University of Khartoum , Khartoum , Sudan.
  • Elseed MA; Department of Paediatrics and Child Health, Faculty of Medicine, University of Khartoum , Khartoum , Sudan.
  • Lek M; Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School , Boston, Massachusetts.
  • Valkanas E; Broad Institute of the Massachusetts Institute of Technology and Harvard University , Cambridge, Massachusetts.
  • MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School , Boston, Massachusetts.
  • Kunkel LM; Broad Institute of the Massachusetts Institute of Technology and Harvard University , Cambridge, Massachusetts.
  • Pacak CA; Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School , Boston, Massachusetts.
  • Draper I; Broad Institute of the Massachusetts Institute of Technology and Harvard University , Cambridge, Massachusetts.
  • Kang PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School , Boston, Massachusetts.
Physiol Genomics ; 50(11): 929-939, 2018 11 01.
Article de En | MEDLINE | ID: mdl-30345904
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Dystrophies musculaires des ceintures / Oxidoreductases acting on sulfur group donors / Mutation Type d'étude: Prognostic_studies Limites: Adult / Animals / Female / Humans / Male Pays/Région comme sujet: Africa / Asia Langue: En Journal: Physiol Genomics Sujet du journal: BIOLOGIA MOLECULAR Année: 2018 Type de document: Article
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Dystrophies musculaires des ceintures / Oxidoreductases acting on sulfur group donors / Mutation Type d'étude: Prognostic_studies Limites: Adult / Animals / Female / Humans / Male Pays/Région comme sujet: Africa / Asia Langue: En Journal: Physiol Genomics Sujet du journal: BIOLOGIA MOLECULAR Année: 2018 Type de document: Article