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Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy, Anna; Sa, Mario; Ridout, Deborah; Fernandez-Garcia, Miguel Angel; Distefano, Maria Grazia; Main, Marion; Sheehan, Jennie; Manzur, Adnan Y; Munot, Pinki; Robb, Stephanie; Wraige, Elizabeth; Quinlivan, Rosaline; Scoto, Mariacristina; Baranello, Giovanni; Gowda, Vasantha; Mein, Rachael; Phadke, Rahul; Jungbluth, Heinz; Muntoni, Francesco.
Afiliación
  • Sarkozy A; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Sa M; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Ridout D; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Fernandez-Garcia MA; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Distefano MG; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Main M; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Sheehan J; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Manzur AY; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Munot P; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Robb S; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Wraige E; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Quinlivan R; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Scoto M; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Baranello G; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Gowda V; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Mein R; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Phadke R; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Jungbluth H; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
  • Muntoni F; From the Dubowitz Neuromuscular Centre (A.S., M.Sa, M.G.D., M.M., A.Y.M., P.M., S.R., R.Q., M. Scoto, G.B., R.P., F.M.), UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases; Department of Paediatric Neurology (M. Sa, M.A.F.-G., E.W., V.G., H.J.), Neuromuscul
Neurology ; 101(15): e1495-e1508, 2023 10 10.
Article en En | MEDLINE | ID: mdl-37643885
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Canal Liberador de Calcio Receptor de Rianodina / Enfermedades Musculares Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Newborn Idioma: En Revista: Neurology Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Canal Liberador de Calcio Receptor de Rianodina / Enfermedades Musculares Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans / Newborn Idioma: En Revista: Neurology Año: 2023 Tipo del documento: Article