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المؤلفون: Monkol Lek, Alma Kuechler, Maria J. Guillen Sacoto, Marwan Shinawi, Thorsten Krieger, Caroline Nava, Eva Tolosa, Marine Lebrun, Immo Prinz, Ineke de Kruijff, Thomas E. Mullen, Julien Buratti, Sathish Venkataramanappa, Antonio M. Lerario, Raymond J. Louie, Maja Hempel, Anne-Marie Laberge, Tim M. Strom, Boris Keren, Paulien A Terhal, Casie A. Genetti, Julie Gauthier, Tobias B. Haack, Alexandra Afenjar, Ruth Simon, Robin Kobbe, Caroline Schluth-Bolard, Ivana Lessel, Nuria C. Bramswig, Koen L.I. van Gassen, Christian Kubisch, Moneef Shoukier, Mariana F A Funari, Leonie Kuhlmann, Stefan Britsch, Christina Gehbauer, Dagmar Wieczorek, Pentao Liu, Bénédicte Demeer, Alexander Augusto Lima Jorge, Sara S. Cathey, Boris Lenhard, Anja Barešić, Pankaj B. Agrawal, Fadi F. Hamdan, Jonas Denecke, Philippe M. Campeau, Hermann-Josef Lüdecke, Davor Lessel
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Brain, 141, 2299. Oxford University Press
Brain 141, 2299-2311 (2018)مصطلحات موضوعية: 0301 basic medicine, Male, T-Lymphocytes, Medizin, Haploinsufficiency, medicine.disease_cause, Mice, 0302 clinical medicine, Missense mutation, Lymphocytes, Child, Mutation, neurodevelopment, Innate lymphoid cell, High-Throughput Nucleotide Sequencing, BCL11B, developmental delay, medicine.anatomical_structure, intellectual disability, Child, Preschool, Female, Heterozygote, Adolescent, T cell, Nonsense mutation, BCL11B, developmental delay, intellectual disability, type 2 innate lymphoid cells, neurodevelopment, Biology, type 2 innate lymphoid cells, Frameshift mutation, 03 medical and health sciences, Immune system, Bcl11b, Developmental Delay, Intellectual Disability, Neurodevelopment, Type 2 Innate Lymphoid Cells, medicine, Animals, Humans, Germ-Line Mutation, Tumor Suppressor Proteins, MUTAÇÃO GENÉTICA, Infant, Original Articles, Repressor Proteins, 030104 developmental biology, Gene Expression Regulation, Neurodevelopmental Disorders, Immunology, Neurology (clinical), 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: image/pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbf20506aa303fe57ec59f8f11d49ce1Test
https://www.ncbi.nlm.nih.gov/pubmed/29985992Test -
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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