Molecular characterization of congenital myasthenic syndromes in Spain

Autor: Natera-de Benito, D. ^*, Töpf, A., Vilchez, J.J., González-Quereda, L., Domínguez-Carral, J., Díaz-Manera, J., Ortez, C., Bestué, M., Gallano, P., Dusl, M., Abicht, A., Müller, J.S., Senderek, J., García-Ribes, A., Muelas, N., Evangelista, T., Azuma, Y., McMacken, G., Paipa Merchan, A., Rodríguez Cruz, P.M., Camacho, A., Jiménez, E., Miranda-Herrero, M.C., Santana-Artiles, A., García-Campos, O., Dominguez-Rubio, R., Olivé, M., Colomer, J., Beeson, D., Lochmüller, H., Nascimento, A.

Publikováno v: In Neuromuscular Disorders December 2017 27(12):1087-1098

Pyridostigmine-responsive limb-girdle congenital myasthenic syndrome with frequent tubular aggregates

Autor: Mueller, J, Senderek, J, Dusl, M, Guergueltcheva, V, Laval, S, Bushby, K, Straub, V, Beeson, D, Abicht, A, Lochmueller, H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::eca4836c8c4dcf99068db45d494298f7
https://ora.ox.ac.uk/objects/uuid:2351965c-3973-4e31-8dca-640ec1f3194f

A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ).

Autor: Holland, Stephen Henry^1,2,3 (AUTHOR), Carmona-Martinez, Ricardo¹ (AUTHOR), O'Connor, Kaela^1,2 (AUTHOR), O'Neil, Daniel¹ (AUTHOR), Roos, Andreas^3,4,5 (AUTHOR), Spendiff, Sally¹ (AUTHOR), Lochmüller, Hanns^1,2,3,6,7 (AUTHOR) hlochmuller@toh.ca

Publikováno v: Biomolecules (2218-273X). Oct2024, Vol. 14 Issue 10, p1252. 24p.

Congenital myastenic syndromes due a novel GFPT1 mutation: a new Italian case

Autor: Sframeli, Maria, Messina, Sonia, Portaro, S., Dusl, M., Lochmuller, H., Toscano, Antonio, Rodolico, Carmelo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3978::40435c15461743f0f92b935fa1c8145e
http://hdl.handle.net/11570/2420821

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

Autor: Rodríguez Cruz PM; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, UK., Cossins J; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Estephan EP; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil., Munell F; Neuromuscular disorders Group, Child Neurology Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Selby K; University of British Columbia, Vancouver, British Columbia, Canada., Hirano M; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, USA., Maroofin R; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK., Mehrjardi MYV; Medical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., Chow G; Department of Paediatric Neurology, Nottingham City Hospital, Nottingham University Hospitals NHS Trust, Hucknall Road, Nottingham, UK., Carr A; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK., Manzur A; Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK., Robb S; Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK., Munot P; Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK., Wei Liu W; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Fraser H; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., De Goede C; Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK., Zanoteli E; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil., Conti Reed U; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil., Sage A; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, USA., Gratacos M; Department of Clinical Neurophysiology, Hospital Universitari Vall d'Hebron, Barcelona Spain., Macaya A; Neuromuscular disorders Group, Child Neurology Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Dusl M; Friedrich-Baur-Institute at the Department of Neurology, University Hospital LMU Munich, Munich, Germany., Senderek J; Friedrich-Baur-Institute at the Department of Neurology, University Hospital LMU Munich, Munich, Germany., Töpf A; Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, UK., Hofer M; Department of Neuropathology, John Radcliffe Hospital NHS Foundation Trust, Oxford, UK., Knight R; Department of Clinical Neurophysiology, John Radcliffe Hospital NHS Foundation Trust, Oxford, UK., Ramdas S; Department of Paediatric Neurology, John Radcliffe Hospital NHS Foundation Trust, Oxford, UK., Jayawant S; Department of Paediatric Neurology, John Radcliffe Hospital NHS Foundation Trust, Oxford, UK., Lochmüller H; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada., Palace J; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, UK., Beeson D; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

Publikováno v: Brain : a journal of neurology [Brain] 2019 Jun 01; Vol. 142 (6), pp. 1547-1560.