المؤلفون: Paul Maddison, L. Phillips, Anna Kostera-Pruszczyk, Anna Łusakowska, Ana Töpf, L. Xu, Daniel G. MacArthur, Marta Bertoli, Kristl G. Claeys, Monkol Lek, Ela Akay, Katherine Johnson, Alexandra Bastian, Volker Straub, Stojan Peric, Vidosava Rakocevic Stojanovic, Andreas Hahn

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)
Orphanet journal of rare diseases 12(1), 173 (2017). doi:10.1186/s13023-017-0722-1
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Candidate gene, Adolescent, lcsh:Medicine, Biology, Compound heterozygosity, Bioinformatics, Sequence variants, Frameshift mutation, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Glycogen storage disease type II, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Exome sequencing, Aged, Aged, 80 and over, Muscle Weakness, Glycogen Storage Disease Type II, Genetic heterogeneity, Research, lcsh:R, Whole exome sequencing, Genetic Variation, Muscle weakness, Pompe disease, alpha-Glucosidases, General Medicine, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Child, Preschool, Female, medicine.symptom, 030217 neurology & neurosurgery

وصف الملف: Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11a5bb4bbf80ab971616404ecc7b297cTest
http://link.springer.com/article/10.1186/s13023-017-0722-1Test

المؤلفون: Mark Busby, Rita Barresi, L. Phillips, Tiziana Mongini, Hacer Durmus, Jonathan Baets, Fiona Norwood, Judith N Hudson, James Miller, Peter De Jonghe, Shahriar Nafissi, Katherine Johnson, Ana Töpf, Monkol Lek, Stojan Peric, Daniel G. MacArthur, Marta Bertoli, Willem De Ridder, Shirin Jamal-Omidi, Vidosava Rakocevic Stojanovic, Volker Straub, Tine Deconinck, Anna Łusakowska

المصدر: Journal of neurology, neurosurgery and psychiatry

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Myopathy, Ubiquitin-Protein Ligases, Nonsense mutation, Population, Ethnic Groups, Muscle disorder, Muscular Dystrophies, Frameshift mutation, Tripartite Motif Proteins, 03 medical and health sciences, Limb-Girdle, 0302 clinical medicine, Muscular Diseases, Missense mutation, Medicine, Humans, Muscular dystrophy, education, Exome sequencing, Muscle disease, education.field_of_study, Neuromuscular, Female, Magnetic Resonance Imaging, Middle Aged, Muscle, Skeletal, Muscular Dystrophies, Limb-Girdle, Mutation, Transcription Factors, business.industry, Skeletal, medicine.disease, 3. Good health, Psychiatry and Mental health, Muscle, Surgery, Neurology (clinical), Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28cfdfc1be3263ac26ee02f4f736fa0bTest
http://hdl.handle.net/2318/1786348Test

المؤلفون: Miloš Brkušanin, L. Phillips, Straub, Ana Töpf, Vidosava Rakocevic Stojanovic, Daniel G. MacArthur, M. Cassop-Thompson, Dusanka Savic-Pavicevic, Hanns Lochmüller, JN Glumac, Katherine Johnson, L. Xu, Vedrana Milic Rasic, Stojan Peric, S Milenkovic, Marta Bertoli, Ruzica Maksimovic, Monkol Lek, Bojan Banko

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Population, Mutation, Missense, Genes, Recessive, Biology, Compound heterozygosity, Article, Muscular Dystrophies, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetics, medicine, Missense mutation, Humans, Connectin, Myopathy, education, Child, Creatine Kinase, Genetics (clinical), education.field_of_study, Haplotype, Syndrome, Middle Aged, Founder Effect, 3. Good health, Distal Myopathies, 030104 developmental biology, Phenotype, Haplotypes, Case-Control Studies, biology.protein, Titin, Female, medicine.symptom, Serbia, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aabd18a1f68ec347c33ec0784e2c02eTest
https://europepmc.org/articles/PMC5437897Test/