المؤلفون: Alfredo Granata, Enrica Filippelli, Rita Nisticò, Stefania Barone, Paola Valentino

المصدر: Neurological sciences (Online) 40 (2019): 195–197. doi:10.1007/s10072-018-3554-4.
info:cnr-pdr/source/autori:Enrica Filippelli 1, Stefania Barone 1, Alfredo Granata 1, Rita Nisticò 2, Paola Valentino 1,2/titolo:A case of facioscapulohumeral muscular dystrophy and myasthenia gravis with positivity of anti-Ach receptor antibody: a fortuitous association?/doi:10.1007%2Fs10072-018-3554-4./rivista:Neurological sciences (Online)/anno:2019/pagina_da:195/pagina_a:197/intervallo_pagine:195–197/volume:40

مصطلحات موضوعية: medicine.medical_specialty, Neurology, biology, business.industry, Dermatology, General Medicine, 030204 cardiovascular system & hematology, medicine.disease, Myasthenia gravis, MG - Myasthenia gravis, 03 medical and health sciences, Psychiatry and Mental health, 0302 clinical medicine, Immunology, biology.protein, Medicine, Facioscapulohumeral muscular dystrophy, Neurology (clinical), Muscular dystrophy, Antibody, business, Receptor, AchR-abs antibodies to acetylcholine receptor, FSHD facioscapulohumeral muscular dystrophy, MG myasthenia gravis, RNS repetitive nerve stimulation, SFEMG single-fiber elctromyography, 030217 neurology & neurosurgery, Acetylcholine receptor

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf96a92d1a155cded45a44cf3275c92cTest
https://doi.org/10.1007/s10072-018-3554-4Test

المؤلفون: Richard W. Orrell, David Hilton-Jones, Judith Hudson, Hanns Lochmüller, Maggie Williams, Teresinha Evangelista, Libby Wood, Michela Guglieri, Debbie Smith, Peter Lunt, Fiona Norwood, Tracey Willis, Karen Rafferty, Roberto Fernández-Torrón

المصدر: Journal of Neurology

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, medicine.medical_specialty, Neuromuscular disease, Adolescent, Databases, Factual, Clinical Neurology, Young Adult, 03 medical and health sciences, Age Distribution, Clinical trials, 0302 clinical medicine, Quality of life, Surveys and Questionnaires, medicine, Humans, Facioscapulohumeral muscular dystrophy, Registries, Young adult, Child, Aged, Retrospective Studies, Aged, 80 and over, FSHD, Original Communication, business.industry, Retrospective cohort study, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, United Kingdom, Rare diseases, 3. Good health, Clinical trial, 030104 developmental biology, Neurology, Child, Preschool, Physical therapy, Female, Data sharing, Neurology (clinical), medicine.symptom, business, Minimal dataset, 030217 neurology & neurosurgery, Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87799fd1b21132b5bbcd8cf8445c367cTest
https://doi.org/10.1007/s00415-016-8132-1Test

المؤلفون: Daniel G. Miller, Kelly Kernan, Suk-Lin Zhou, Premi Haynes

المصدر: Skeletal Muscle
Skeletal Muscle, Vol 7, Iss 1, Pp 1-13 (2017)

مصطلحات موضوعية: 0301 basic medicine, Cell type, lcsh:Diseases of the musculoskeletal system, Facioscapulohumeral, DUX4, Induced Pluripotent Stem Cells, PAX3, Stem cells, Biology, Myoblasts, Mice, 03 medical and health sciences, Animals, Humans, Myocyte, Orthopedics and Sports Medicine, Induced pluripotent stem cell, PAX3 Transcription Factor, Molecular Biology, Cells, Cultured, Embryonic Stem Cells, Homeodomain Proteins, FSHD, Myogenesis, Research, Gene Expression Regulation, Developmental, PAX7 Transcription Factor, Cell Differentiation, Cell Biology, Fibroblasts, musculoskeletal system, Embryonic stem cell, Molecular biology, Muscular Dystrophy, Facioscapulohumeral, PAX7, 030104 developmental biology, Isogenic, lcsh:RC925-935, Stem cell, Developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cccbbc2bb3fa31daa36c23e46aaaf606Test
https://doi.org/10.1186/s13395-017-0130-1Test

المؤلفون: Richard J.L.F. Lemmers, Elena Sanchez-Curtailles, Daniel G. Miller, Peter de Knijff, Silvère M. van der Maarel, Judit Balog, Marco Potman, Stephen J. Tapscott, Jose Carbo-Marques, Gregory J. Block

المصدر: European Journal of Human Genetics, 20(2), 185-191

مصطلحات موضوعية: Male, macrosatellite repeats, Article, Cell Line, Epigenesis, Genetic, Histones, Histone H3, Antigens, Neoplasm, Heterochromatin, Gene Order, Genetics, Humans, RNA, Messenger, Epigenetics, Promoter Regions, Genetic, Genetics (clinical), Epigenomics, FSHD, Chromosomes, Human, X, D4Z4, epigenetics, biology, copy number variation, Proteins, DNA Methylation, Molecular biology, Chromatin, Histone, Tandem Repeat Sequences, Histone methyltransferase, DNA methylation, biology.protein, cancer/testis antigen, Female, Human genome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5683569210a1a577da509377be1287e8Test
https://doi.org/10.1038/ejhg.2011.150Test

المؤلفون: Jorge H. Martin, Jennifer Stocksdale, Sara T. Winokur, Rabi Tawil, Jane E. Hewitt, Melanie Ehrlich, On Ying A. Chan, Ulla Bengtsson, Peter S. Masny, Jessica C. de Greef, Silvère M. van der Maarel, Leslie F. Lock

المصدر: European Journal of Human Genetics, 18(4), 448-456

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Transcription, Genetic, Muscle Fibers, Skeletal, Biology, Article, Myoblasts, chemistry.chemical_compound, Transcription (biology), facioscapulohumeral muscular dystrophy FSHD allelic expression RNA FISH FRG1l ANT1 facioscapulohumeral muscular-dystrophy 4q subtelomere candidate gene d4z4 expression muscle hypomethylation differentiation rearrangements variants, Gene expression, Genetics, medicine, Humans, Facioscapulohumeral muscular dystrophy, Muscle, Skeletal, Gene, Alleles, Cells, Cultured, In Situ Hybridization, Fluorescence, Genetics (clinical), Cell Nucleus, Chromosome Mapping, RNA, DNA, Telomere, medicine.disease, Molecular biology, Chromatin, Muscular Dystrophy, Facioscapulohumeral, Cell nucleus, medicine.anatomical_structure, Microscopy, Fluorescence, chemistry, Tandem Repeat Sequences, Chromosomes, Human, Pair 4

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39ba46d470dcd41adbf379f1c9bf739eTest
https://doi.org/10.1038/ejhg.2009.183Test

المؤلفون: Davide Gabellini, Rossella Tupler

المصدر: Cellular and Molecular Life Sciences (CMLS). 61:557-566

مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Heterochromatin, Biology, Cellular and Molecular Neuroscience, medicine, Humans, Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Repeated sequence, Myopathy, Molecular Biology, Gene, Homeodomain Proteins, Pharmacology, Genetics, Muscles, Chromosome, Autosomal dominant trait, Sequence Analysis, DNA, Cell Biology, medicine.disease, Molecular biology, Muscular Dystrophy, Facioscapulohumeral, facioscapulohumeral muscular dystrophy, FSHD, molecular mechanism, Molecular Medicine, Chromosomes, Human, Pair 4, medicine.symptom, Pseudogenes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8210ffd21668f271c8b30f74b2723adTest
https://doi.org/10.1007/s00018-003-3285-3Test

المؤلفون: Tremblay, Deanna C, Alexander, Graham, Moseley, Shawn, Chadwick, Brian P

مصطلحات موضوعية: facioscapulohumeral muscular-dystrophy, repetitive dna-sequence, deubiquitinating enzyme, candidate gene, messenger-rna, x-chromosome, fshd, family, differentiation, protein, biotechnology & applied microbiology, genetics & heredity

وصف الملف: application/pdf

العلاقة: Bmc Genomics; Tremblay,Deanna C.;Alexander,Graham, Jr.;Moseley,Shawn;Chadwick,Brian P. 2010. Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome. Bmc Genomics 11( ): 632-632.; https://hdl.handle.net/10161/4349Test

الإتاحة: https://hdl.handle.net/10161/4349Test