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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: Peter Van den Bergh, Sabrina Sacconi, Andreas Ferbert, Matthias Vorgerd, Markus Bergmann, Jörg B. Schulz, Joachim Weis, Jean-Jacques Martin, Marcus Deschauer, J Elisa Bach, Peter De Jonghe, Jan Bürmann, Wolfram Kress, Kristl G. Claeys, Eva Neuen-Jacob, J. Michael Schröder, Anna-Lena Semmler, Rudolf A. Kley, Claus Liebe, Roland Anderheiden, Oliver J. Müller
المساهمون: Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.121
Orphanet Journal of Rare Diseases, Vol. 9, p. 121 [1-13] (2014)
Orphanet journal of rare diseases 9(1), 121 (2014). doi:10.1186/s13023-014-0121-9
Orphanet journal of rare diseases
Orphanet journal of rare diseases 9, 121 (2014). doi:10.1186/s13023-014-0121-9مصطلحات موضوعية: Male, Pathology, bcl-2 associated athanogene protein 3, 610 Medical sciences Medicine, 0302 clinical medicine, Genetics(clinical), Pharmacology (medical), FLNC, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Genetics, Medicine(all), 0303 health sciences, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, Phenotype, Pedigree, 3. Good health, Mutation (genetic algorithm), Female, Protein aggregation, Polyneuropathy, Myopathies, Structural, Congenital, Adult, medicine.medical_specialty, Adolescent, Next generation sequencing, Biology, MFM, Hearing impairment, Young Adult, 03 medical and health sciences, medicine, Humans, ddc:610, Muscle, Skeletal, Gene, Adaptor Proteins, Signal Transducing, Aged, 030304 developmental biology, Nerve biopsy, Genetic heterogeneity, Research, medicine.disease, Human genetics, Mutation, Human medicine, Apoptosis Regulatory Proteins, 030217 neurology & neurosurgery
وصف الملف: application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb47c88657f1d9f8b9fc70a4ba9888e7Test
https://hal.archives-ouvertes.fr/hal-01117408Test -
3
المؤلفون: Radim Mazanec, Nathalie Goemans, Albena Jordanova, H.-J. Christen, Christine Verellen, James R. Lupski, Jan De Bleecker, Paolo Vinci, Matthias Van Hul, Kristien Verhoeven, Rudy Van Coster, Els De Vriendt, Andrzej Kochański, Wim Robberecht, Jeffery M. Vance, Velina Guergueltcheva, Peter De Jonghe, Ian J. Butler, Gulam Mustafa Saifi, Peter Vieregge, Vedrana Milic Rasic, Filip Roelens, J. Michael Schröder, Eva Nelis, Chantal Ceuterick, Kristl Claeys, Pavel Seeman, Kinga Szigeti, Barbara Ryniewicz, Pedro Mancias, Stephan Züchner, Yoram Nevo, I. Tournev, Vincent Timmerman, María Teresa García Moreno, Michaela Auer-Grumbach, Joachim Weis, Peter Van den Bergh, Michael E. Shy
المصدر: Brain
مصطلحات موضوعية: Pathology, medicine.disease_cause, Severity of Illness Index, GTP Phosphohydrolases, 0302 clinical medicine, Degenerative disease, Charcot-Marie-Tooth Disease, Genotype, mitofusin 2, Age of Onset, Child, 0303 health sciences, Mutation, education.field_of_study, Middle Aged, Electrophysiology, medicine.anatomical_structure, Phenotype, Child, Preschool, Sensory nerve, Adult, medicine.medical_specialty, Adolescent, Population, Sural nerve, Biology, genotype-phenotype correlation, Mitochondrial Proteins, 03 medical and health sciences, Atrophy, atrophy, Sural Nerve, medicine, features, Humans, education, gene, 030304 developmental biology, Aged, Membrane Proteins, medicine.disease, charcot-marie-tooth type 2, mitofusin-2, Surgery, Microscopy, Electron, disease type-2, neuropathy, Neurology (clinical), Age of onset, 030217 neurology & neurosurgery
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fbd19685d12f10b9f298f3ffdd049b5Test
https://pubmed.ncbi.nlm.nih.gov/16714318Test