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TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Munot, Pinki; McCrea, Nadine; Torelli, Silvia; Manzur, Adnan; Sewry, Caroline; Chambers, Darren; Feng, Lucy; Ala, Pierpaolo; Zaharieva, Irina; Ragge, Nicola; Roper, Helen; Marton, Tamas; Cox, Phil; Milev, Miroslav P; Liang, Wen-Chen; Maruyama, Shinsuke; Nishino, Ichizo; Sacher, Michael; Phadke, Rahul; Muntoni, Francesco.
Affiliation
  • Munot P; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • McCrea N; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Torelli S; UCL, Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health, London, UK.
  • Manzur A; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Sewry C; Dubowitz Neuromuscular Centre, Division of Neuropathology, UCL Institute of Neurology, London, UK.
  • Chambers D; Dubowitz Neuromuscular Centre, Division of Neuropathology, UCL Institute of Neurology, London, UK.
  • Feng L; Dubowitz Neuromuscular Centre, Division of Neuropathology, UCL Institute of Neurology, London, UK.
  • Ala P; UCL, Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health, London, UK.
  • Zaharieva I; UCL, Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health, London, UK.
  • Ragge N; Birmingham Women's and Children's NHS Foundation Hospital Trust, West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.
  • Roper H; Department of Paediatrics, Birmingham Heartlands Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
  • Marton T; Department of Histopathology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Cox P; Department of Histopathology, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
  • Milev MP; Department of Biology, Concordia University, Montreal, Quebec, Canada.
  • Liang WC; Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
  • Maruyama S; Department of Paediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Centre of Neurology and Psychiatry, Kodaira, Japan.
  • Sacher M; Department of Biology, Concordia University, Montreal, Quebec, Canada.
  • Phadke R; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, Canada.
  • Muntoni F; Dubowitz Neuromuscular Centre, Division of Neuropathology, UCL Institute of Neurology, London, UK.
Neuropathol Appl Neurobiol ; 48(2): e12771, 2022 02.
Article de En | MEDLINE | ID: mdl-34648194
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Encéphale / Muscles squelettiques / Protéines du transport vésiculaire / Dystroglycanes / Dystrophies musculaires Limites: Child, preschool / Female / Humans / Infant / Male Langue: En Journal: Neuropathol Appl Neurobiol Année: 2022 Type de document: Article Pays d'affiliation: Royaume-Uni Pays de publication: Royaume-Uni
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: Encéphale / Muscles squelettiques / Protéines du transport vésiculaire / Dystroglycanes / Dystrophies musculaires Limites: Child, preschool / Female / Humans / Infant / Male Langue: En Journal: Neuropathol Appl Neurobiol Année: 2022 Type de document: Article Pays d'affiliation: Royaume-Uni Pays de publication: Royaume-Uni