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1
المؤلفون: Anna Sarkozy, Erik-Jan Kamsteeg, Mark Pfuhl, Nicol C. Voermans, Martin Rees, Corrie E. Erasmus, Hülya-Sevcan Daimagüler, Steven A. Moore, Rahul Phadke, Mark R. Holt, Rolf Schröder, Istvan Bodi, Carla Grosmann, Sebahattin Cirak, E. Matthews, Ay Lin Kho, Peter Van den Bergh, Christian Thiel, Shane McKee, Joel Victor Fluss, Roksana Nikoopour, Charu Deshpande, Jens Reimann, Emily C. Oates, Maria Elena Farrugia, Özkan Özdemir, Isabelle Richard, Cristina Domínguez-González, Chaminda Konersman, Ekkehard Wilichowski, Birgit Brandmeier, Atsushi Fukuzawa, Ana Ferreiro, Heinz Jungbluth, Ros Quinlivan, Sandya Tirupathi, Mathias Gautel, Gabriele Dekomien, Cheryl Longman, Miguel A Fernandez-Garcia, Francesco Muntoni, Michael G. Hanna, Elizabeth Wraige, Elke Hobbiebrunken, Sarah Grover
المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Centre de référence neuromusculaire, King‘s College London, Evelina London Children's Hospital, Guy's Hospital [London], University of Cologne, Children’s University Hospital of Geneva [Switzerland], Queen Elizabeth University Hospital (Glasgow), National Hospital for Neurology and Neurosurgery [London, UK], Great Ormond Street Hospital for Children [London] (GOSH), University College of London [London] (UCL), University of New South Wales [Sydney] (UNSW), Westmead Hospital [Sydney], University Hospital Erlangen [Germany], Universitätsklinikum Erlangen [Erlangen], University of Bonn Medical Centre [Bonn], Radboud university [Nijmegen], Rady Children's Hospital, Belfast City Hospital, Royal Belfast Hospital for Sick Children, University of Iowa [Iowa City], University of Göttingen - Georg-August-Universität Göttingen, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Généthon, Saint-Luc University Hospital [Brussels, Belgium], Hospital Universitario 12 de Octubre [Madrid], Université de Paris (UP), 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), CHU Charles Foix [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), King's College Hospital (KCH), MRC Centre for Neuromuscular Diseases [London, UK], University Hospital Erlangen = Uniklinikum Erlangen, Radboud University [Nijmegen], Radboud University Medical Center [Nijmegen], Gillette Children's Specialty Healthcare [St Paul], Georg-August-University = Georg-August-Universität Göttingen, Ruhr-Universität Bochum [Bochum], Université Paris Cité (UPCité), Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)
المصدر: Acta Neuropathologica, 141, 431-453
Acta Neuropathologica, Vol. 141, no. 3, p. 431-453 (2021)
Acta Neuropathologica, 141, 3, pp. 431-453
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Adolescent, Myotonia Congenita, Mutation, Missense, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Extraocular muscles, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Humans, Medicine, Missense mutation, Connectin, Child, Myopathy, Aged, Muscle contracture, Genetics, Phenocopy, Original Paper, biology, business.industry, Infant, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Congenital myopathy, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, biology.protein, Female, Titin, Neurology (clinical), medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50b0834b2069a16869cd3b6e7cc432fTest
http://hdl.handle.net/2066/231686Test -
2
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: Fabrice Michel, Cristina Domínguez-González, Gabriel Viennet, H. Orhan Akman, Johanna Nilsson, Carola Hedberg-Oldfors, Cornelia Kornblum, Aurelio Hernández-Laín, Salvatore DiMauro, Norma B. Romero, Peter Van den Bergh, Anders Oldfors, Andrew G. Engel, Edoardo Malfatti
المصدر: Annals of Neurology. 76:891-898
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Glycogenin, Skeletal muscle, Biology, Compound heterozygosity, medicine.disease, 3. Good health, Glycogen debranching enzyme, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine.anatomical_structure, Neurology, Internal medicine, medicine, biology.protein, Glycogen storage disease, Neurology (clinical), medicine.symptom, Myopathy, Glycogen synthase, GSK3B, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5cf0f6d180b7e5aae9952ad294fc083dTest
https://doi.org/10.1002/ana.24284Test -
4
المؤلفون: Russell Lane, Isabelle Pénisson-Besnier, Wojtek Rakowicz, Charlotte K. Brierley, Cheryl Longman, Fiona Norwood, Andrew P. Jackson, Dieter Gläser, Matt Parton, Rumaisa Bashir, David Hilton-Jones, Debbie Hicks, Benedikt Schoser, Marcus Deschauer, Paul Maddison, John Nixon, Laura E. Rufibach, Meriel McEntagart, Isabel Illa, John McConville, Rita Barresi, John B Winer, Herbert Schreiber, Grainne S. Gorman, Laurence A. Bindoff, Christopher J Price, Hanns Lochmüller, Partha Ray, Simon Hammans, David Cottrell, Mark Roberts, Anthony H.V. Schapira, J. Hudson, Francesco Muntoni, Elizabeth Harris, Jay Panicker, Richard Walters, Ali Al-Memar, Robert G. Cooper, Esther Hwang, Sabine Krause, Pamela J. Shaw, Robert J. Swingler, Michelle Eagle, Bertold Schrank, Anna Sarkozy, Andrew W. Gibson, Maggie C. Walter, Richard E. Petty, Michael G. Hanna, Kathryn R. Wagner, Chris Turner, Peter Van den Bergh, Aijaz Khan, Geraldine Bailey, Michela Guglieri, NP Davies, Kate Bushby, Volker Straub, Jürgen Seeger, Liesbeth De Waele, Steve Laval, Douglass M. Turnbull
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Human Mutation, Vol. 34, no.8, p. 1111-1118 (2013)
Human mutation, 2013, Vol.34(8), pp.1111-1118 [Peer Reviewed Journal]
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: muscular dystrophy, Adult, Male, medicine.medical_specialty, Anoctamins, Gene mutation, Biology, ANO5, medicine.disease_cause, Exon, Sex Factors, Chloride Channels, Internal medicine, Prevalence, Genetics, medicine, Muscular dystrophy, Humans, Allele, Myopathy, Genetics (clinical), Retrospective Studies, Aged, LGMD2L, Mutation, Clinical pathology, Gender, Genetic Variation, Middle Aged, medicine.disease, Europe, Phenotype, Muscular Dystrophies, Limb-Girdle, Female, medicine.symptom, Limb-girdle muscular dystrophy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de3e6e91bac2c99f929b8cc933a27687Test
https://doi.org/10.1002/humu.22342Test -
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المؤلفون: Veerle Van Gerwen, Vincent Timmerman, Klaus Wagner, Luciano Merlini, Christian Windpassinger, Christine Verellen, Albena Jordanova, Peter Van den Bergh, Ines Dierick, Michaela Auer-Grumbach, Nathalie Verpoorten, Lionel Van Maldergem, Els De Vriendt, Joy Irobi, Peter De Jonghe
المصدر: Brain
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Adolescent, BSCL2, Russell-Silver Syndrome, Biology, Seipin, Genetic Heterogeneity, Distal amyotrophy, GTP-Binding Protein gamma Subunits, medicine, Humans, Spasticity, Child, Leg, Muscle Weakness, Spastic Paraplegia, Hereditary, Genetic heterogeneity, Muscle weakness, Syndrome, Middle Aged, Hand, Amyotrophy, medicine.disease, Pedigree, Muscular Atrophy, Phenotype, Muscle Spasticity, Mutation, Neurology (clinical), medicine.symptom, Hereditary Sensory and Motor Neuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5d903fcfbe019ecee37090c8ea6959Test
https://doi.org/10.1093/brain/awh232Test -
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المؤلفون: Nuria Muelas, Zohar Argov, Juan J. Vílchez, Sini Penttilä, Volker Straub, Carsten Bonneman, Patricia G. Wheeler, Kathryn R. Wagner, Phillipa J. Lamont, Rebecca Gooding, Kym M. Boycott, Gerald F. Cox, Alan H. Beggs, Jahannaz Dastgir, Alexandru Barboi, Anne M. Connolly, David Hilton-Jones, E. Schmedding, Johanna Palmio, Elizabeth T. DeChene, NP Davies, Heinz Jungbluth, Tiina Suominen, Bjarne Udd, Kate Bushby, Peter Van den Bergh, William Wallefeld, Nigel G. Laing, Elizabeth Wraige, Christopher Staples
المساهمون: Neuroprotection & Neuromodulation
المصدر: Human mutation. 35(7)
مصطلحات موضوعية: Proband, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Child, preschool, Biopsy, DNA Mutational Analysis, Cardiomyopathy, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Myosin, Genetics, medicine, Missense mutation, Humans, Myopathy, Child, Muscle, Skeletal, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, Myosin Heavy Chains, Infant, Newborn, Skeletal muscle, Infant, Middle Aged, medicine.disease, Immunohistochemistry, 3. Good health, Distal Myopathies, medicine.anatomical_structure, Phenotype, young adult, MYH7, Female, medicine.symptom, mutation, Cardiac Myosins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95d5f95eec553d1cc27eafb63d53104cTest
http://ora.ox.ac.uk/objects/uuid:95321b62-c413-45d4-81cd-c9728f1b6a5fTest -
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المؤلفون: Nicolas Deconinck, Peter Van den Bergh, José Groswasser, Pascale Richard, Cynthia Prigogine
المصدر: Pediatric neurology. 43(4)
مصطلحات موضوعية: musculoskeletal diseases, Male, medicine.medical_specialty, Laminopathy, Gene mutation, Biology, Muscular Dystrophies, LMNA, Developmental Neuroscience, Internal medicine, medicine, Humans, Muscular dystrophy, Child, Muscle biopsy, Muscle Weakness, medicine.diagnostic_test, Muscle weakness, medicine.disease, Lamin Type A, Immunohistochemistry, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Mutation, Congenital muscular dystrophy, Neurology (clinical), medicine.symptom, ITGA7
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b1c014e05d3f2f4849ea47ff71f43c5Test
https://pubmed.ncbi.nlm.nih.gov/20837309Test -
8
المؤلفون: Benedikt Schoser, Wolfgang Müller-Felber, Angela Vincent, Detlef Claus, Christian Kubisch, Giuseppe Vita, David Hilton-Jones, Hans H. Goebel, Saiju Jacob, Antonio Toscano, Peter Van den Bergh
المصدر: Neuromuscular disorders : NMD. 19(3)
مصطلحات موضوعية: myalgia, Adult, Male, Pathology, medicine.medical_specialty, Caveolin 3, Immunogenic, medicine.medical_treatment, Muscle Fibers, Skeletal, Muscle Proteins, Caveolin-3, Myasthenia gravis, Rippling muscle disease, Therapy, Azathioprine, Thymus Gland, Gene mutation, Biology, Caveolae, Dysferlin, Muscular Diseases, Myasthenia Gravis, medicine, Humans, Muscle, Skeletal, Genetics (clinical), Aged, Autoantibodies, Sarcolemma, Electromyography, Autoantibody, Plasmapheresis, Middle Aged, medicine.disease, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Female, Steroids, Neurology (clinical), Cholinesterase Inhibitors, medicine.symptom, medicine.drug, Follow-Up Studies, Muscle Contraction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c384b86b02ed288872375b4a96f3adc4Test
https://pubmed.ncbi.nlm.nih.gov/19208478Test -
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المؤلفون: Peter Hackman, Sylvie Marchand, Bjarne Udd, Peter Van den Bergh, Isabelle Richard, Olivier Bouquiaux, Christine Verellen
المصدر: Annals of neurology. 54(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, DNA Mutational Analysis, Muscle Proteins, Locus (genetics), Biology, Asymptomatic, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Tibialis anterior muscle, Belgium, Internal medicine, medicine, Humans, Point Mutation, Connectin, Family, Muscular dystrophy, Myopathy, Muscle, Skeletal, Creatine Kinase, Gait Disorders, Neurologic, 030304 developmental biology, Subclinical infection, Aged, 0303 health sciences, Leg, Electromyography, Anatomy, DNA, Exons, Middle Aged, medicine.disease, Penetrance, Pedigree, stomatognathic diseases, Neurology, biology.protein, Titin, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, human activities, Protein Kinases, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbb5d62d3982a7bd5711ab5ba1d94b92Test
https://pubmed.ncbi.nlm.nih.gov/12891679Test