المؤلفون: Franz-Georg Hanisch, Benedikt Schoser, C. Kubny, Wolfram Kress, Elisa Bach, S. Feldkirchner, Stefan Müller, Joachim Schessl, Simone Rost

المصدر: neurogenetics. 15:151-156

مصطلحات موضوعية: Adult, Male, Genes, Recessive, Biology, Sarcomere, Cellular and Molecular Neuroscience, Exon, Genetics, medicine, Humans, Myotilin, Missense mutation, Connectin, Muscular dystrophy, Muscle, Skeletal, Myopathy, Genetics (clinical), Exome sequencing, Homozygote, Microfilament Proteins, Skeletal muscle, Exons, medicine.disease, Molecular biology, medicine.anatomical_structure, Mutation, medicine.symptom, Myopathies, Structural, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14f86d2c915b585ab9098c71eb5d0c63Test
https://doi.org/10.1007/s10048-014-0410-4Test

المؤلفون: S. Feldkirchner, Joachim Schessl, Benedikt Schoser, C. Kubny

المصدر: Seminars in Pediatric Neurology. 18:257-263

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Cardiomyopathy, Muscle Proteins, Scoliosis, Mallory Bodies, Biology, medicine.disease_cause, Muscular Dystrophies, Muscular Diseases, medicine, Humans, Muscular dystrophy, Muscle, Skeletal, Myopathy, Muscle contracture, Mutation, Intracellular Signaling Peptides and Proteins, Genetic Diseases, X-Linked, LIM Domain Proteins, medicine.disease, Muscular Dystrophy, Emery-Dreifuss, Muscle atrophy, FHL1, Muscular Atrophy, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80e030508f5dd157a1027993e552a999Test
https://doi.org/10.1016/j.spen.2011.10.007Test

المؤلفون: Yaqun Zou, Carsten G. Bönnemann, Joachim Schessl, Joerg Stetefeld, Markus Meier, Lauren Elman, Alan H. Beggs, Marcella Devoto, Kevin J. Felice, Michele L. Yang, Kristen Zukosky, Gihan Tennekoon, J. Raphael Gibbs, Jahannaz Dastgir, Katherine G. Meilleur, Livija Medne, Jachinta Rooney, Ozge Ceyhan-Birsoy, Richard S. Finkel, Toby A. Ferguson, Janel O. Johnson, Bryan J. Traynor, James J. Collins

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Genetic Linkage, ACTA1, Scapuloperoneal Myopathy, linkage analysis, exome sequence, Mutation, Missense, Biology, Myopathies, Nemaline, Article, Nemaline myopathy, medicine, Missense mutation, Humans, Exome, Muscular dystrophy, Age of Onset, Myopathy, Child, Exome sequencing, Muscle biopsy, medicine.diagnostic_test, Muscle weakness, medicine.disease, Actins, Muscular Dystrophy, Emery-Dreifuss, Pedigree, Phenotype, Disease Progression, Neurology (clinical), medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50acc31350fe5016087ae11ab7b7a586Test
http://hdl.handle.net/11573/788380Test

المؤلفون: Carsten G. Bönnemann, Joachim Schessl, Yaqun Zou

المصدر: Seminars in Pediatric Neurology. 13:80-89

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Biology, Bioinformatics, medicine.disease, Phenotype, Muscular Dystrophies, Extracellular Matrix, Extracellular matrix, Pathogenesis, Collagen VI, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, medicine, Dystroglycan, biology.protein, Animals, Humans, Neurology (clinical), Muscular dystrophy, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d82c029b0420c91182402c6c347be0Test
https://doi.org/10.1016/j.spen.2006.06.003Test

المؤلفون: Joachim Schessl, Benedikt Schoser, Wolfram Kress

المصدر: Muscle & Nerve. 45:740-742

مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, Mutation, biology, Physiology, business.industry, Intron, Compound heterozygosity, medicine.disease_cause, medicine.disease, Dysferlin, Cellular and Molecular Neuroscience, Exon, Physiology (medical), biology.protein, medicine, Missense mutation, Neurology (clinical), Muscular dystrophy, business, Limb-girdle muscular dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::984441bb3d6b5e43a001f0f8565afea9Test
https://doi.org/10.1002/mus.23281Test

المؤلفون: Florian Stehling, Claudia Schmoor, Janbernd Kirschner, G. Bernert, Simone Thiele, Bernd Reitter, Jürg Lütschg, Rudolf Korinthenberg, Gabriele Ihorst, Gert Wiegand, Maja von der Hagen, Ekkehard Wilichowski, Ulrike Schara, Elke Hobbiebrunken, Georg M. Stettner, Ulrike Grieben, Simone Weiss, Joachim Schessl, Wolfgang Müller-Felber

المصدر: The Lancet. Neurology. 9(11)

مصطلحات موضوعية: Male, medicine.medical_specialty, Duchenne muscular dystrophy, Medizin, Placebo, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, law, Prednisone, Internal medicine, medicine, Humans, Muscular dystrophy, Child, 030304 developmental biology, 0303 health sciences, business.industry, Muscle weakness, medicine.disease, Ciclosporin, 3. Good health, Surgery, Clinical trial, Muscular Dystrophy, Duchenne, Review Literature as Topic, Treatment Outcome, Cyclosporine, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::657a9863efa0614c6516326217a050a6Test
https://pubmed.ncbi.nlm.nih.gov/21087735Test

المؤلفون: Steffen Just, Wolfgang Rottbauer, E. Kayvanpour, M. Keßler, Joachim Schessl, Benedikt Schoser, A. Kieltsch

المصدر: Neuromuscular Disorders. 24:846

مصطلحات موضوعية: Gene knockdown, Skeletal muscle, Morphant, Biology, medicine.disease, biology.organism_classification, Molecular biology, FHL1, medicine.anatomical_structure, Neurology, In vivo, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, Muscular dystrophy, Myopathy, Zebrafish, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fcd0fe23a2c88c5031268526b15d26d3Test
https://doi.org/10.1016/j.nmd.2014.06.181Test

المؤلفون: Wolfram Kress, Joachim Schessl, Benedikt Schoser, S. Feldkirchner

المصدر: Neuromuscular Disorders. 24:845

مصطلحات موضوعية: Marfan syndrome, medicine.medical_specialty, Muscle biopsy, medicine.diagnostic_test, biology, business.industry, Hypertrophic cardiomyopathy, medicine.disease, FHL1, Aneurysm, medicine.anatomical_structure, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, cardiovascular system, medicine, Cardiology, biology.protein, cardiovascular diseases, Neurology (clinical), Muscular dystrophy, ACTA2, business, Genetics (clinical), Artery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::68e11d7f2e99388bba46b2f5a04973eaTest
https://doi.org/10.1016/j.nmd.2014.06.178Test

المؤلفون: Soledad Monges, Guy Brochier, Nathalie Streichenberger, Edoardo Malfatti, Joachim Schessl, Ana Lia Taratuto, Marc Bitoun, Gabriel Vasquez, Pascale Richard, Fabiana Lubieniecki, Bernard Prudhon, Carsten G. Bönnemann, Michel Fardeau, Lucie Gueneau, Gisèle Bonne, Montse Olivé, Bruno Eymard, Thierry Maisonobe, Tanya Stojkovic, Marilena Alexianu, Norma B. Romero, Emmanuelle Lacène, Pascal Laforêt, Maria Saccoliti, Dominique Figarella-Branger

المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona
ResearcherID

مصطلحات موضوعية: Male, Pathology, Biopsy, DNA Mutational Analysis, Muscle Proteins, Desmin, Muscle hypertrophy, Myotilin, Connectin, Muscular dystrophy, Child, biology, Microfilament Proteins, Intracellular Signaling Peptides and Proteins, Autosomal Emery-Dreifuss Muscular Dystrophy, General Medicine, LIM Domain Proteins, Middle Aged, Muscular Dystrophy, Emery-Dreifuss, Neurology, Female, Titin, medicine.symptom, Adult, Distròfia muscular, medicine.medical_specialty, Adolescent, Immunoelectron microscopy, Article, Pathology and Forensic Medicine, Young Adult, Cellular and Molecular Neuroscience, Muscular Diseases, medicine, Humans, Muscle, Skeletal, Myopathy, Malalties musculars, alpha-Crystallin B Chain, Cardiomyopathy, Hypertrophic, medicine.disease, Muscular diseases, FHL1, Cytoskeletal Proteins, Microscopy, Electron, Mutation, biology.protein, Neurology (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2779ddb9424d37d1fc6ac44b14feb8f1Test
http://hdl.handle.net/2445/126442Test