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Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.
Todd, Joshua J; Razaqyar, Muslima S; Witherspoon, Jessica W; Lawal, Tokunbor A; Mankodi, Ami; Chrismer, Irene C; Allen, Carolyn; Meyer, Mary D; Kuo, Anna; Shelton, Monique S; Amburgey, Kim; Niyazov, Dmitriy; Fequiere, Pierre; Bönnemann, Carsten G; Dowling, James J; Meilleur, Katherine G.
Afiliación
  • Todd JJ; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
  • Razaqyar MS; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
  • Witherspoon JW; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
  • Lawal TA; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
  • Mankodi A; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke--NINDS (NIH), Bethesda, MD, United States.
  • Chrismer IC; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
  • Allen C; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
  • Meyer MD; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
  • Kuo A; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
  • Shelton MS; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
  • Amburgey K; Division of Neurology, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
  • Niyazov D; Department of Pediatrics, Ochsner Medical Center, New Orleans, LA, United States.
  • Fequiere P; Division of Neurology, Children's of Alabama, Birmingham, AL, United States.
  • Bönnemann CG; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke--NINDS (NIH), Bethesda, MD, United States.
  • Dowling JJ; Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada.
  • Meilleur KG; Department of Molecular Genetics, Hospital for Sick Children, Toronto, ON, Canada.
Front Neurol ; 9: 118, 2018.
Article en En | MEDLINE | ID: mdl-29556213
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Front Neurol Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Front Neurol Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos