Ramdas, Sithara - Resultados de la búsqueda - Depósito Digital de Documentos de la UAB

Buscar colecciones:

Ordenar por:	Mostrar resultados:	Formato de visualización:

Resultados globales: 1 registros encontrados en 0.02 segundos.
Artículos, Encontrados 1 registros

Artículos	Encontrados 1 registros

9 p, 359.6 KB

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations / Rodríguez Cruz, Pedro M. (John Radcliffe Hospital (Oxford, Regne Unit)) ; Cossins, Judith (Neurosciences Group. Nuffield Department of Clinical Neurosciences. Weatherall Institute of Molecular Medicine. University of Oxford) ; De Paula Estephan, Eduardo (Departamento de Neurologia. Faculdade de Medicina. Universidade de São Paulo (FMUSP)) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Selby, KKathryn (University of British Columbia) ; Hirano, Michio (Department of Neurology. H. Houston Merritt Neuromuscular Research Center. Columbia University Medical Center) ; Maroofin, Reza (Molecular and Clinical Sciences Institute. St. George's. University of London) ; Mehrjardi, Mohammad Yahya Vahid (Medical Genetics Research Centre. Shahid Sadoughi University of Medical Sciences) ; Chow, Gabriel (Nottingham University Hospitals NHS Trust (Regne Unit)) ; Carr, Aislin (MRC Centre for Neuromuscular Diseases. National Hospital for Neurology and Neurosurgery) ; Manzur, Adnan (Dubowitz Neuromuscular Centre. MRC Centre for Neuromuscular Diseases. UCL Great Ormond Street Institute of Child Health) ; Robb, Stephanie (Dubowitz Neuromuscular Centre. MRC Centre for Neuromuscular Diseases. UCL Great Ormond Street Institute of Child Health) ; Munot, Pinki (Dubowitz Neuromuscular Centre. MRC Centre for Neuromuscular Diseases. UCL Great Ormond Street Institute of Child Health) ; Wei Liu, Wei (Neurosciences Group. Nuffield Department of Clinical Neurosciences. Weatherall Institute of Molecular Medicine. University of Oxford) ; Banka, Siddharth (Manchester Centre for Genomic Medicine. St Mary's Hospital. Manchester University NHS Foundation Trust. Health Innovation Manchester) ; Fraser, Harry (Manchester Centre for Genomic Medicine. St Mary's Hospital. Manchester University NHS Foundation Trust. Health Innovation Manchester) ; De Goede, Christian (Department of Paediatric Neurology. Royal Preston Hospital) ; Zanoteli, Edmar (Departamento de Neurologia. Faculdade de Medicina. Universidade de São Paulo (FMUSP)) ; Conti Reed, Umbertina (Departamento de Neurologia. Faculdade de Medicina. Universidade de São Paulo (FMUSP)) ; Sage, Abigail (Department of Neurology. H. Houston Merritt Neuromuscular Research Center. Columbia University Medical Center) ; Gratacòs-Viñola, Margarida (Hospital Universitari Vall d'Hebron) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Dusl, Marina (Friedrich-Baur-Institute. Department of Neurology. University Hospital LMU Munich) ; Senderek, Jan (Friedrich-Baur-Institute. Department of Neurology. University Hospital LMU Munich) ; Töpf, Ana (Institute of Genetic Medicine) ; Hofer, Monika (John Radcliffe Hospital (Oxford, Regne Unit)) ; Knight, Ravi (John Radcliffe Hospital (Oxford, Regne Unit)) ; Ramdas, Sithara (Department of Paediatric Neurology. John Radcliffe Hospital NHS Foundation Trust) ; Jayawant, Sandeep (Department of Paediatric Neurology. John Radcliffe Hospital NHS Foundation Trust) ; Lochmüller, Hans (Division of Neurology. Department of Medicine. Ottawa Hospital) ; Palace, Jacqueline (John Radcliffe Hospital (Oxford, Regne Unit)) ; Beeson, David (Neurosciences Group. Nuffield Department of Clinical Neurosciences. Weatherall Institute of Molecular Medicine. University of Oxford) ; Universitat Autònoma de Barcelona
Next generation sequencing techniques were recently used to show mutations in COL13A1 cause synaptic basal lamina-associated congenital myasthenic syndrome type 19. Animal studies showed COL13A1, a synaptic extracellular-matrix protein, is involved in the formation and maintenance of the neuromuscular synapse that appears independent of the Agrin-LRP4-MuSK-DOK7 acetylcholine receptor clustering pathway. [...]
2019 - DOI (Digital Object Identifier)

10.1093/brain/awz107
Brain, Vol. 142 Núm. 6 (january 2019) , p. 1547-1560

Registro completo -

Vea también: autores con nombres similares
3	Ramdas, Shweta

¿Le interesa recibir alertas sobre nuevos resultados de esta búsqueda?
Defina una alerta personal vía correo electrónico o subscríbase al canal RSS.