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1
المؤلفون: Svetlana Gorokhova, Joachim Schessl, Yaqun Zou, Michele L. Yang, Peter T. Heydemann, Robert L. Sufit, Katherine Meilleur, Sandra Donkervoort, Livija Medne, Richard S. Finkel, Carsten G. Bönnemann
المصدر: Med. 4:245-251.e3
مصطلحات موضوعية: General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8d76e4e0a7b383daae2a18a403a7fd7dTest
https://doi.org/10.1016/j.medj.2023.02.005Test -
2
المؤلفون: Dieter O. Fürst, Linda Manta, Joachim Schessl, Rolf Schröder, Peter F.M. van der Ven, Benedikt Schoser, Ludwig Eichinger, Sofia Hirth, Steffen Just, Mirjam Keßler, Sören Westphal, John B. Bührdel, Christoph S. Clemen, Monika Forster, Gerhard Wiche, Wolfgang Rottbauer
المصدر: Biochemical and Biophysical Research Communications. 461(2):217-223
مصطلحات موضوعية: Candidate gene, Biophysics, Skeletal muscle, Myofibrillar myopathy, Biology, medicine.disease_cause, Biochemistry, medicine, Animals, Humans, Genetic Predisposition to Disease, Cardiac muscle, Muscle, Skeletal, Gene, Zebrafish, Molecular Biology, Heart Failure, Genetics, Mutation, Myocardium, Cell Biology, biology.organism_classification, Phenotype, Disease Models, Animal, medicine.anatomical_structure, Gene Expression Regulation, Reverse genetics, Gene Knockdown Techniques, Myofibril, Myopathies, Structural, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c00602aa8170fc8321e06ff72153a9c3Test
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المؤلفون: Benedikt Schoser, Astrid Blaschek, Sebastian A. Schroeder, Katharina Vill, Joachim Schessl, Wolfgang Müller-Felber, V. Teusch
المصدر: Neuromuscular Disorders. 25:120-126
مصطلحات موضوعية: Adult, Male, Weakness, Pathology, medicine.medical_specialty, Adolescent, Biopsy, Disease, Cohort Studies, Young Adult, Glycogen storage disease type II, medicine, Humans, Muscle, Skeletal, Genetics (clinical), Aged, Subclinical infection, medicine.diagnostic_test, Glycogen Storage Disease Type II, business.industry, Ultrasound, Age Factors, Infant, Ultrasonography, Doppler, Magnetic resonance imaging, Enzyme replacement therapy, Middle Aged, medicine.disease, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Small for gestational age, Female, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35fe2f069c7bf3a00e653de8baee6fc7Test
https://doi.org/10.1016/j.nmd.2014.09.016Test -
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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 -
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المؤلفون: Joachim Schessl, Nicolai Schramm, Wolfram Kress, Benedikt Schoser, Josef Müller-Höcker, Sabine Krause, Peter Reilich, Hanns Lochmüller, Maggie C. Walter
المصدر: Neuromuscular Disorders. 20:255-259
مصطلحات موضوعية: Male, Genotype, DNA Mutational Analysis, Muscle Fibers, Skeletal, Mutation, Missense, Cardiomyopathy, medicine.disease_cause, Cataracts, Crystallin, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Age of Onset, Muscle, Skeletal, Myopathy, Genetics (clinical), Aged, Inclusion Bodies, Genetics, Mutation, business.industry, alpha-Crystallin B Chain, medicine.disease, Molecular biology, eye diseases, Protein Structure, Tertiary, Distal Myopathies, Amino Acid Substitution, Neurology, Pediatrics, Perinatology and Child Health, Congenital cataracts, sense organs, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::152a6343ca64950b0eef836322217638Test
https://doi.org/10.1016/j.nmd.2010.01.012Test -
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المؤلفون: Mark J. Brown, Carsten G. Bönnemann, Drew A. Torigian, Joachim Schessl, Hans H. Goebel, Heinz Jungbluth, Yaqun Zou, Jason T. Huse, Ying Hu, Livija Medne
المصدر: Neuromuscular Disorders. 17:28-32
مصطلحات موضوعية: Adult, Male, Weakness, Thigh, Biceps, Dynamin II, Humans, Medicine, Centronuclear myopathy, Muscle, Skeletal, Genetics (clinical), Dynamin, Family Health, Muscle biopsy, medicine.diagnostic_test, business.industry, Anatomy, Middle Aged, musculoskeletal system, medicine.disease, Magnetic Resonance Imaging, DNM2, medicine.anatomical_structure, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, Central core disease, Myopathies, Structural, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bfba0a11f1fc6b1a2c0f74feafdc060Test
https://doi.org/10.1016/j.nmd.2006.09.013Test -
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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 -
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المؤلفون: Gerald Pfeffer, Rolf Schröder, Rudolf A. Kley, Patrick F. Chinnery, Montse Olivé, Matthias Vorgerd, Joachim Schessl, Lev G. Goldfarb, Frank Hanisch, Hanns Lochmüller, Giorgio Tasca, Jens Reimann, Werner Stenzel, A. Maerkens, Bjarne Udd, Anna Sarkozy, Rita Barresi, Benedikt Schoser, Katrin Marcus, S. Feldkirchner, Kristl G. Claeys, Teresinha Evangelista
المصدر: Neuromuscular Disorders. 24:830
مصطلحات موضوعية: Skeletal muscle, Protein degradation, Protein aggregation, Muscle disorder, Biology, Filamin, Molecular biology, medicine.anatomical_structure, Neurology, Biochemistry, Pediatrics, Perinatology and Child Health, medicine, Desmin, Neurology (clinical), Myofibril, Genetics (clinical), Laser capture microdissection
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5837b7af8a82cb6b981527442cc3afe2Test
https://doi.org/10.1016/j.nmd.2014.06.131Test -
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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 -
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المؤلفون: Simone Rost, Joachim Schessl, Stefan Müller, Franz-Georg Hanisch, Benedikt Schoser, S. Feldkirchner, E. Bach, C. Kubny, Wolfram Kress
المصدر: Neuromuscular Disorders. 24:832
مصطلحات موضوعية: Skeletal muscle, Biology, medicine.disease, Sarcomere, Molecular biology, Exon, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, medicine, Missense mutation, Myotilin, Neurology (clinical), medicine.symptom, Myopathy, Genetics (clinical), Laser capture microdissection, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0545350b7a27c2bdfafcfa1c1a04880fTest
https://doi.org/10.1016/j.nmd.2014.06.135Test