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Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.
Harris, Elizabeth; Burki, Umar; Marini-Bettolo, Chiara; Neri, Marcella; Scotton, Chiara; Hudson, Judith; Bertoli, Marta; Evangelista, Teresinha; Vroling, Bas; Polvikoski, Tuomo; Roberts, Mark; Töpf, Ana; Bushby, Kate; McArthur, Daniel; Lochmüller, Hanns; Ferlini, Alessandra; Straub, Volker; Barresi, Rita.
Afiliación
  • Harris E; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Burki U; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Marini-Bettolo C; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Neri M; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
  • Scotton C; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
  • Hudson J; Northern Genetics Service, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Bertoli M; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Evangelista T; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Vroling B; Bio-Prodict, Nieuwe Marktstraat 54E, 6511 AA Nijmegen, The Netherlands.
  • Polvikoski T; Pathology Department, Royal Victoria Hospital, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Roberts M; Neurology Department, Salford Royal Foundation NHS Trust, Stott Lane, Salford M6 8HD, UK.
  • Töpf A; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Bushby K; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • McArthur D; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, USA.
  • Lochmüller H; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Ferlini A; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
  • Straub V; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Barresi R; Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4AZ, UK. Electronic address: rita.barresi@ncl.ac.uk.
Neuromuscul Disord ; 27(9): 861-872, 2017 Sep.
Article en En | MEDLINE | ID: mdl-28624464
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Bazo / Trastornos de las Plaquetas Sanguíneas / Miosis / Miopatías Estructurales Congénitas / Dislexia / Estudios de Asociación Genética / Molécula de Interacción Estromal 1 / Ictiosis / Trastornos Migrañosos / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Bazo / Trastornos de las Plaquetas Sanguíneas / Miosis / Miopatías Estructurales Congénitas / Dislexia / Estudios de Asociación Genética / Molécula de Interacción Estromal 1 / Ictiosis / Trastornos Migrañosos / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido