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المؤلفون: J. Andoni Urtizberea, María L. Cuadrado, Isabelle Desguerre, Emmanuelle Lagrue, Michel Fardeau, Carsten G. Bönnemann, Ulrike Reuner, Haluk Topaloglu, Beate Schlotter-Weigel, Susana Quijano-Roy, Maja von der Hagen, Rocio N. Villar-Quiles, Sandra Donkervoort, Denys Chaigne, Nathalie Goemans, Michèle Mayer, Norma B. Romero, Ekkehard Wilichowski, Jaume Colomer, Brigitte Estournet, Corinne Metay, Ulrike Schara, M Stoetter, Pascale Richard, Edoardo Malfatti, Angela M. Kaindl, Ana Ferreiro, David Orlikowski, Anneke van der Kooi, Marianne de Visser, Luciano Merlini, E. Bertini, Jürg Lütschg, Bruno Eymard, Volker Straub, C. Castiglioni, Mustafa A. Salih, Victoria Gonzalez
المساهمون: Neurology, ANS - Neuroinfection & -inflammation
المصدر: Neurology, 95(11), e1512-e1527. Lippincott Williams and Wilkins
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Medizin, Retrospective cohort study, Scoliosis, medicine.disease, 3. Good health, Ophthalmoparesis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Respiratory failure, Internal medicine, Biopsy, Medicine, Neurology (clinical), Young adult, medicine.symptom, business, Myopathy, 030217 neurology & neurosurgery, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6630144f5805a5d3daa9c0a2ffd7dfbTest
https://www.ncbi.nlm.nih.gov/pubmed/32796131Test -
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المؤلفون: Sofie Thurø Østergaard, Katherine Johnson, Tanya Stojkovic, Thomas Krag, Willem De Ridder, Peter De Jonghe, Jonathan Baets, Kristl G Claeys, Roberto Fernández-Torrón, Lauren Phillips, Ana Topf, Jaume Colomer, Shahriar Nafissi, Shirin Jamal-Omidi, Celine Bouchet-Seraphin, France Leturcq, Daniel G MacArthur, Monkol Lek, Liwen Xu, Isabelle Nelson, Volker Straub, John Vissing
المساهمون: University of Copenhagen = Københavns Universitet (UCPH), Newcastle University [Newcastle], Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Vlaams Instituut voor Biotechnologie [Ghent, Belgique] (VIB), University of Antwerp (UA), Antwerp University Hospital [Edegem] (UZA), University Hospitals Leuven [Leuven], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Biodonostia Health Research Institute [Donostia-San Sebastian, Spain] (IIS Biodonostia), Hospital Sant Joan de Déu [Barcelona], Tehran University of Medical Sciences (TUMS), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Cochin [AP-HP], Massachusetts General Hospital [Boston], Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Allamand, Valérie
المصدر: Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2018, 89 (5), pp.506-512. ⟨10.1136/jnnp-2017-317018⟩
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of neurology, neurosurgery and psychiatryمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, [SDV]Life Sciences [q-bio], 03 medical and health sciences, 0302 clinical medicine, Atrophy, Internal medicine, Medicine, Muscular dystrophy, Gluteal muscles, Biology, Muscle biopsy, medicine.diagnostic_test, business.industry, Anatomy, medicine.disease, Hyperintensity, [SDV] Life Sciences [q-bio], Psychiatry and Mental health, 030104 developmental biology, medicine.anatomical_structure, Cardiology, Congenital muscular dystrophy, Surgery, Human medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Hamstring, Limb-girdle muscular dystrophy
وصف الملف: pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fa5afff53bcec5e4af09fa23beaa094Test
https://hal.science/hal-03864445Test -
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المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck
المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents
المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscleمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION
وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test -
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المؤلفون: Vedrana Milic Rasic, Juan J. Vílchez, Beril Talim, Rosalind H.M. King, Andrea Müllner-Eidenböck, Toshiyuki Miyata, Ralf Herrmann, Judit Beres, Luciano Merlini, Luba Kalaydjieva, Andoni Urtizberea, Jaume Colomer, Ivailo Tournev, Tomohiko Okuda, Frank Baas, Maggie C. Walter, Veronika Karcagi, Manuela Santos, Hanns Lochmüller, Velina Guergueltcheva
المساهمون: Amsterdam Neuroscience, Neurology, Genome Analysis
المصدر: Neuromuscular disorders, 15(1), 65-71. Elsevier Limited
مصطلحات موضوعية: Gerontology, 0303 health sciences, medicine.medical_specialty, education.field_of_study, Public health, Population, Medizin, University hospital, humanities, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Neurology, Family medicine, Political science, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Pediatric Neurology, education, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebf23317f462441fd58fe65d4a20c5abTest
https://doi.org/10.1016/j.nmd.2004.09.008Test