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Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Weihl, Conrad C; Töpf, Ana; Bengoechea, Rocio; Duff, Jennifer; Charlton, Richard; Garcia, Solange Kapetanovic; Domínguez-González, Cristina; Alsaman, Abdulaziz; Hernández-Laín, Aurelio; Franco, Luis Varona; Sanchez, Monica Elizabeth Ponce; Beecroft, Sarah J; Goullee, Hayley; Daw, Jil; Bhadra, Ankan; True, Heather; Inoue, Michio; Findlay, Andrew R; Laing, Nigel; Olivé, Montse; Ravenscroft, Gianina; Straub, Volker.
Afiliación
  • Weihl CC; Department of Neurology, Washington University School of Medicine, Saint Louis, USA. weihlc@wustl.edu.
  • Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Bengoechea R; Department of Neurology, Washington University School of Medicine, Saint Louis, USA.
  • Duff J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Charlton R; Muscle Immunoanalysis Unit, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Garcia SK; ALS and Neuromuscular Unit, Department of Neurology, Hospital Universitario de Basurto, Bilbao, Vizcaya, Spain.
  • Domínguez-González C; Neuromuscular Unit, Department of Neurology, imas12 Research Institute, Hospital 12 de Octubre, Madrid, Spain.
  • Alsaman A; Pediatric Neurology Department, National Neuroscience Institute, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
  • Hernández-Laín A; Neuropathology Unit, Hospital 12 de Octubre Research Institute (imas12), Madrid, Spain.
  • Franco LV; ALS and Neuromuscular Unit, Department of Neurology, Hospital Universitario de Basurto, Bilbao, Vizcaya, Spain.
  • Sanchez MEP; ALS and Neuromuscular Unit, Department of Pneumology, Hospital Universitario de Basurto, Bilbao, Vizcaya, Spain.
  • Beecroft SJ; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.
  • Goullee H; Pawsey Supercomputing Research Centre, Commonwealth Scientific and Industrial Research Organisation, Kensington, WA, Australia.
  • Daw J; Department of Neurology, Washington University School of Medicine, Saint Louis, USA.
  • Bhadra A; Department of Cell Biology and Physiology, Washington University School of Medicine, Saint Louis, USA.
  • True H; Department of Cell Biology and Physiology, Washington University School of Medicine, Saint Louis, USA.
  • Inoue M; Department of Neurology, Washington University School of Medicine, Saint Louis, USA.
  • Findlay AR; Department of Neurology, Washington University School of Medicine, Saint Louis, USA.
  • Laing N; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.
  • Olivé M; Neuromuscular Unit, Department of Neurology, Hospital de La Santa Creu I San Pau, Barcelona, Spain.
  • Ravenscroft G; Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
  • Straub V; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain.
Acta Neuropathol ; 145(1): 127-143, 2023 01.
Article en En | MEDLINE | ID: mdl-36264506
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Insuficiencia Respiratoria / Enfermedades Musculares Límite: Animals Idioma: En Revista: Acta Neuropathol Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Insuficiencia Respiratoria / Enfermedades Musculares Límite: Animals Idioma: En Revista: Acta Neuropathol Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Alemania