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1
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: 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 -
3
المؤلفون: Nicol C. Voermans, Thierry Kuntzer, Michel Delforge, Marie-Christiane Vekemans, Olivier Benveniste, Monique C. Minnema, Peter Van den Bergh, Véronique Leblond, Norma B. Romero, Jan Novy, Thomas Pabst, Françoise Bouhour, Henk M. Lokhorst, Bruno Eymard, Wouter Meersseman, Baziel G.M. van Engelen, Martin Lammens
المصدر: Neurology
Neurology, 83, 23, pp. 2133-9
Voermans, Nicol C; Benveniste, Olivier; Minnema, Monique C; Lokhorst, Henk; Lammens, Martin; Meersseman, Wouter; Delforge, Michel; Kuntzer, Thierry; Novy, Jan; Pabst, Thomas; Bouhour, Françoise; Romero, Norma; Leblond, Veronique; Bergh, Peter van den; Vekemans, Marie-Christiane; Engelen, Baziel G van; Eymard, Bruno (2014). Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT. Neurology, 83(23), pp. 2133-2139. Lippincott Williams & Wilkins 10.1212/WNL.0000000000001047 <http://dx.doi.org/10.1212/WNL.0000000000001047Test>
ResearcherID
Europe PubMed Central
Neurology, 83, 2133-9مصطلحات موضوعية: Melphalan, Adult, Male, medicine.medical_specialty, Paraproteinemias, Late onset, 610 Medicine & health, Myopathies, Nemaline, Gastroenterology, Transplantation, Autologous, Autologous stem-cell transplantation, Nemaline myopathy, immune system diseases, Internal medicine, hemic and lymphatic diseases, Medicine, Humans, Age of Onset, Myopathy, Retrospective Studies, business.industry, Muscle weakness, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hematologic Response, 3. Good health, Surgery, Treatment Outcome, Female, Neurology (clinical), Human medicine, medicine.symptom, business, Case series, medicine.drug, Follow-Up Studies, Stem Cell Transplantation
وصف الملف: pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8519e93627827a67a1c17d2569a0441dTest
https://hdl.handle.net/10067/1221760151162165141Test -
4
المساهمون: UCL - (SLuc) Service de médecine physique et de réadaptation motrice, UCL - MD/IEPR - Institut d'éducation physique et de réadaptation, UCL - MD/NOPS - Département de neurologie et de psychiatrie, UCL - (SLuc) Service de neurologie
المصدر: Neuromuscular Disorders, Vol. 19, no. 2, p. 99-103 (2009)
مصطلحات موضوعية: Questionnaires, Adult, Male, medicine.medical_specialty, Activities of daily living, Adolescent, Duchenne muscular dystrophy, Myotonic dystrophy, Disability Evaluation, Young Adult, Charcot-Marie-Tooth Disease, Predictive Value of Tests, Surveys and Questionnaires, Activities of Daily Living, medicine, Humans, Myotonic Dystrophy, Young adult, Muscular dystrophy, Child, Genetics (clinical), Gait Disorders, Neurologic, Paresis, Aged, Aged, 80 and over, Muscle Weakness, business.industry, Muscle weakness, Neuromuscular Diseases, Middle Aged, medicine.disease, Muscular Dystrophy, Duchenne, Neurology, Predictive value of tests, Pediatrics, Perinatology and Child Health, Physical therapy, Disease Progression, Female, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d2476af9af619ab197ad1f8fb08349Test
https://pubmed.ncbi.nlm.nih.gov/19167889Test