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11 p, 1.1 MB |
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
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Töpf, Ana (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Johnson, Katherine (Newcastle University) ;
Bates, Adam (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Phillips, Lauren (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Chao, Katherine R. (Broad Institute of MIT and Harvard) ;
England, Eleina M. (Broad Institute of MIT and Harvard) ;
Laricchia, KristenM. (Broad Institute of MIT and Harvard) ;
Mullen, Thomas (Broad Institute of MIT and Harvard) ;
Valkanas, Elise (Broad Institute of MIT and Harvard) ;
Xu, Liwen (Broad Institute of MIT and Harvard) ;
Bertoli, Marta (Newcastle upon Tyne NHS Foundation Trust) ;
Blain, Alison (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Casasús, Ana B. (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Duff, Jennifer (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Mroczek, Magdalena (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Specht, Sabine (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Lek, Monkol (Yale University School of Medicine) ;
Ensini, Monica (Directorate E. Unit E2 Combatting Diseases) ;
MacArthur, Daniel G. (Murdoch Children's Research Institute) ;
Akay, Ela (Newcastle upon Tyne Hospitals NHS Foundation Trust) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Baets, Jonathan (University of Antwerp) ;
Barisic, Nina (Zagreb Medical School) ;
Bastian, Alexandra (University of Medicine and Pharmacy Carol Davila Bucharest) ;
Borell, Sabine (University of Freiburg) ;
Chamova, Teodora (Alexandrovska Medical University) ;
Claeys, Kristl (KU Leuven) ;
Colomer, Jaume (Hospital Sant Joan de Deu) ;
Coppens, Sandra (Université Libre de Bruxelles) ;
Deconinck, Nicolas (Hôpital Universitaire des Enfants Reine Fabiola (HUDERF)) ;
de Ridder, Willem (University of Antwerp) ;
Diaz-Manera, Jordi (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Domínguez-González, C (Instituto de Investigación Hospital 12 de Octubre Centro de Actividades Ambulatorias) ;
Duncan, Alexis (Queen Elizabeth University Hospital) ;
Durmus, Hacer (Istanbul Faculty of Medicine) ;
Fahmy, Nagia A. (Ain Shams University (El Caire, Egipte)) ;
Farrugia, Maria Elena (Queen Elizabeth University Hospital) ;
Fernández-Torrón, Roberto (Instituto de Salud Carlos III) ;
Gonzalez-Quereda, L (Institut d'Investigació Biomèdica Sant Pau) ;
Haberlova, Jana (Charles University) ;
von der Hagen, Maja (Technische Universitat Dresden) ;
Hahn, Andreas (Justus-Liebig-University Giessen) ;
Jakovčević, Antonia (School of Medicine Zagreb) ;
Jerico Pascual, Ivonne (Complejo Hospitalario de Navarra) ;
Kapetanovic, Solange (Hospital de Basurto (Bilbao, Biscaia)) ;
Kenina, Viktorija (Riga East University Hospital) ;
Kirschner, Janbernd (University of Freiburg) ;
Klein, Andrea (Inselspital Bern) ;
Kölbel, Heike (University of Duisburg) ;
Kostera-Pruszczyk, Anna (Medical University of Warsaw) ;
Kulshrestha, Richa (RJAH Orthopaedic Hospital NHS Foundation Trust) ;
Lähdetie, Jaana (University of Turku and Turku University Central Hospital) ;
Layegh, Mahsa (Tehran University of Medical Sciences) ;
Longman, Cheryl (Queen Elizabeth University Hospital) ;
López de Munain, Adolfo (University of the Basque Country UPV-EHU) ;
Loscher, Wolfgang (Medical University of Innsbruck) ;
Lusakowska, Anna (Medical University of Warsaw) ;
Maddison, Paul (Nottingham University Hospitals NHS Trust (Regne Unit)) ;
Magot, Armelle (Hôtel-Dieu. University Hospital) ;
Majumdar, Anirban (Bristol Children's Hospital) ;
Martí, Pilar (Instituto de Investigación Sanitaria La Fe) ;
Martínez Arroyo, Amaia (Hospital Galdakao) ;
Mazanec, Radim (Charles University) ;
Mercier, Ssandra (Hôtel-Dieu. University Hospital) ;
Mongini, Tiziana (University of Turin) ;
Muelas, Nuria (Instituto de Investigación Sanitaria La Fe) ;
Nascimento, Andrés (Hospital Sant Joan de Deu) ;
Nafissi, Shahriar (Tehran University of Medical Sciences) ;
Omidi, Shirin (Tehran University of Medical Sciences) ;
Ortez González, Carlos Ignacio (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Paquay, Stéphanie (Université de Louvain) ;
Pereon, Yann (Hôtel-Dieu. University Hospital) ;
Perić, Stojan (Clinical Center of Serbia) ;
Ponzalino, Valentina (University of Turin) ;
Rakočević Stojanović, Vidosava (Clinical Center of Serbia) ;
Remiche, Gauthier (Université Libre de Bruxelles) ;
Rodríguez Sainz, Aida (Hospital Galdakao) ;
Rudnik, Sabine (Medical University Innsbruck) ;
Sanchez Albisua, Iciar (University of Tübingen) ;
Santos, Manuela (Centro Hospitalar Universitário Porto) ;
Schara, Ulrike (University of Duisburg) ;
Shatillo, Andriy (Psychiatry and Narcology of NAMS of Ukraine) ;
Sertić, Jadranka (Zagreb Medical School) ;
Stephani, Ulrich (University Medical Center Schleswig-Holstein) ;
Strang-Karlsson, Sonja (Helsinki University Hospital) ;
Sznajer, Yves (Université de Louvain) ;
Tanev, Ani (Alexandrovska Medical University) ;
Tournev, Ivailo (New Bulgarian University) ;
Van den Bergh, Peter (Université de Louvain) ;
Van Parijs, Vinciane (Université de Louvain) ;
Vílchez, Juan (Instituto de Investigación Sanitaria La Fe) ;
Vill, Katharina (Dr. v. Hauner Children's Hospital) ;
Vissing, John (University of Copenhagen) ;
Wallgren-Pettersson, Carina (University of Helsinki) ;
Wanschitz, Julia (Medical University of Innsbruck) ;
Willis, Tracey (RJAH Orthopaedic Hospital NHS Foundation Trust) ;
Witting, Nanna (University of Copenhagen) ;
Zulaica, Miren (Hospital de Donostia (Sant Sebastià, País Basc)) ;
Straub, Volker (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Universitat Autònoma de Barcelona
Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology. [...]
2020 -  10.1038/s41436-020-0840-3
Genetics in medicine, Vol. 22 Núm. 9 (january 2020) , p. 1478-1488
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11 p, 1.0 MB |
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
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Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Gonzalez-Quereda, L (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bruno, Claudio (Center of Translational and Experimental Myology, IRCSS Istituto Giannina Gaslini) ;
Panicucci, Chiara (Center of Translational and Experimental Myology, IRCSS Istituto Giannina Gaslini) ;
Alavi, Afagh (Genetics Research Center, University of Social Welfare and Rehabilitation Sciences) ;
Nafissi, Shahriar (Department of Neurology, Neuromuscular Research Center, Shariati Hospital, Tehran University of Medical Sciences) ;
Nilipour, Yalda (Shahid Beheshti University of Medical Sciences) ;
Zanoteli, Edmar (Faculdade de Medicina da Universidade de São Paulo) ;
Isihi, Lucas Michielon de Augusto (Faculdade de Medicina da Universidade de São Paulo) ;
Melegh, Béla (University of Pecs) ;
Hadzsiev, Kinga (University of Pecs) ;
Muelas, Nuria (Instituto de Investigación Sanitaria La Fe) ;
Vílchez, Juan J. (Instituto de Investigación Sanitaria La Fe) ;
Dourado, Mario Emilio (Federal University of Rio Grande do Norte) ;
Kadem, Naz (University of Health Sciences, Antalya Research and Training Hospital) ;
Kutluk, Gultekin (University of Health Sciences, Antalya Research and Training Hospital) ;
Umair, Muhammad (University of Management and Technology (UMT)) ;
Younus, Muhammad (Peking University) ;
Pegorano, Elena (University of Padova) ;
Bello, Luca (University of Padova) ;
Crawford, Thomas O. (Johns Hopkins University) ;
Suárez-Calvet, Xavier (Institut d'Investigació Biomèdica Sant Pau) ;
Töpf, Ana (Newcastle University) ;
Guglieri, Michela (Newcastle University) ;
Marini-Bettolo, Chiara (Newcastle University and Newcastle Hospitals) ;
Gallano, Pia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Straub, Volker (Newcastle University) ;
Diaz-Manera, Jordi (Newcastle University) ;
Universitat Autònoma de Barcelona
Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. [...]
2021 - 10.1093/brain/awab301
Brain, Vol. 145 (september 2021) , p. 596-606
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9 p, 359.6 KB |
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
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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 - 10.1093/brain/awz107
Brain, Vol. 142 Núm. 6 (january 2019) , p. 1547-1560
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2 p, 436.6 KB |
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK
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Figueroa Bonaparte, Sebastián (Institut d'Investigació Biomèdica Sant Pau) ;
Hudson, J. (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ;
Barresi, R. (Rare Diseases Advisory Group Service for Neuromuscular Diseases, Muscle Immunoanalysis Unit, Dental Hospital) ;
Polvikoski, T. (Institute of Neuroscience, Newcastle University) ;
Williams, T. (Royal Victoria Infirmary) ;
Töpf, Ana (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ;
Harris, E. (Newcastle University. Institute of Genetic Medicine) ;
Hilton-Jones, D. (John Radcliffe Hospital (Oxford, Regne Unit)) ;
Petty, R. (Southern General Hospital) ;
Willis, T. A. (The Robert Jones and Agnes Hunt Orthopaedic Hospital) ;
Longman, C. (Southern General Hospital) ;
Dougan, C. F. (The Walton Centre for Neurology and Neurosurgery) ;
Parton, M. J. (UCL MRC Centre for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery) ;
Hanna, M. G. (MRC Centre for Neuromuscular Disease and National Hospital for Neurology and Neurosurgery) ;
Quinlivan, R. (UCL MRC Centre for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery) ;
Farrugia, M. E. (Southern General Hospital) ;
Guglieri, M. (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ;
Bushby, Kate (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ;
Straub, Volker (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ;
Lochmüller, H. (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ;
Evangelista, T. (The John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University) ;
Universitat Autònoma de Barcelona
2015 - 10.1136/jnnp-2015-310362
Journal of Neurology, Neurosurgery, and Psychiatry, Vol. 87 (june 2015) , p. 680-681
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