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1
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: 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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المصدر: European Journal of Pediatrics. 165:605-612
مصطلحات موضوعية: Male, Mycoplasma pneumoniae, Adolescent, Congenital cytomegalovirus infection, Fluorescent Antibody Technique, Antibodies, Viral, Guillain-Barre Syndrome, medicine.disease_cause, Serology, Immunoenzyme Techniques, RNA Virus Infections, Germany, Gram-Negative Bacteria, medicine, Humans, RNA Viruses, Serologic Tests, Prospective Studies, Child, Sweden, Chlamydia, Guillain-Barre syndrome, business.industry, Campylobacter, Vaccination, DNA Viruses, Infant, Viral Vaccines, medicine.disease, Complement fixation test, Antibodies, Bacterial, DNA Virus Infections, Immunoglobulin A, Immunoglobulin M, Austria, Child, Preschool, Immunoglobulin G, Bacterial Vaccines, Pediatrics, Perinatology and Child Health, Immunology, Female, Gram-Negative Bacterial Infections, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::297bacbd44f0f55fa061dcacb2c467bbTest
https://doi.org/10.1007/s00431-006-0140-1Test -
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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 -
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المؤلفون: Wolfram Kress, Maggie C. Walter, Sabine Krause, Stefan Müller, Benedikt Schoser, Franz-Georg Hanisch, Joachim Schessl, S. Feldkirchner, C. Kubny
المصدر: Neuromuscular disorders : NMD. 23(5)
مصطلحات موضوعية: Male, Proteomics, Biopsy, Muscle Proteins, Biology, Protein aggregation, medicine.disease_cause, symbols.namesake, Exon, Muscular Diseases, medicine, Humans, Genetic Predisposition to Disease, Myopathy, Genetics (clinical), Laser capture microdissection, Sanger sequencing, Genetics, Mutation, Muscle biopsy, medicine.diagnostic_test, Genetic Diseases, X-Linked, LIM Domain Proteins, Middle Aged, Molecular biology, FHL1, Neurology, Pediatrics, Perinatology and Child Health, symbols, Neurology (clinical), medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b1dc99345e60d7447501a3ccd48278fTest
https://pubmed.ncbi.nlm.nih.gov/23489660Test -
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المؤلفون: Carsten G. Bönnemann, Alexandra B. Columbus, Joachim Schessl, Thomas Voit, Ying Hu, Yaqun Zou, Hans-Hilmar Goebel
المصدر: Neuropediatrics. 41(1)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Weakness, Cytoplasm, media_common.quotation_subject, Muscle Proteins, medicine.disease_cause, Asymptomatic, Muscular Diseases, Germany, medicine, Humans, Genetic Predisposition to Disease, Myopathy, Muscle, Skeletal, media_common, Family Health, Mutation, Daughter, Muscle biopsy, medicine.diagnostic_test, business.industry, Intracellular Signaling Peptides and Proteins, General Medicine, LIM Domain Proteins, Middle Aged, FHL1, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, Aunt
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bf8f06705e8bc105f5b9bfc69b4589dTest
https://pubmed.ncbi.nlm.nih.gov/20571991Test -
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المؤلفون: Carsten G. Bönnemann, Hans-Hilmar Goebel, Ying Hu, Lesley R Bridges, Joachim Schessl, Patricia Olmos, A.L. Taratuto, Roberta Battini, Francesco Muntoni, Mena Scavina, Steven S. Chin, Peter Standring, Graciela Espada, Kathryn J. Swoboda, Kevin M. Flanigan, Maria Saccoliti, Yaqun Zou, Baijayanta Maiti, Alberto Dubrovsky, Caroline Sewry, Christina Anne Mitchell, Marcela G Erro, Monica Robertella
مصطلحات موضوعية: Adult, Male, Weakness, Pathology, medicine.medical_specialty, Mutation, Missense, Muscle Proteins, Biology, medicine.disease_cause, Muscular Diseases, Biopsy, medicine, Humans, Genetic Predisposition to Disease, Myopathy, Child, Microscopy, Immunoelectron, Muscle, Skeletal, Mutation, Muscle biopsy, medicine.diagnostic_test, Intracellular Signaling Peptides and Proteins, Infant, Genetic Diseases, X-Linked, Original Articles, LIM Domain Proteins, medicine.disease, Congenital myopathy, FHL1, Pedigree, Child, Preschool, Female, Neurology (clinical), medicine.symptom, Progressive disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4e42e0866b7fe3eda21b3c11bf1d601Test
http://hdl.handle.net/11568/951327Test