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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: 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 -
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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: Edna C. Hardeman, Susan Brown, Joachim Schessl, Carsten G. Bönnemann, Josephine E. Joya, Belinda S. Cowling, Anthony J. Kee, Yaqun Zou, Christina Anne Mitchell, Mai-Anh Nguyen, Meagan Jane Mcgrath, Denny L Cottle
المصدر: The Journal of Cell Biology
مصطلحات موضوعية: Transcriptional Activation, Transcription, Genetic, Muscle Fibers, Skeletal, Muscle Proteins, Biology, Article, Cell Fusion, Myoblasts, Mice, 03 medical and health sciences, Myoblast fusion, 0302 clinical medicine, Muscular Diseases, medicine, Animals, Humans, Myocyte, Muscle, Skeletal, Myopathy, Research Articles, 030304 developmental biology, 0303 health sciences, NFATC Transcription Factors, Myogenesis, Calcineurin, Intracellular Signaling Peptides and Proteins, Skeletal muscle, Hypertrophy, Organ Size, Cell Biology, LIM Domain Proteins, Molecular biology, Muscle atrophy, Cell biology, GATA2 Transcription Factor, medicine.anatomical_structure, Mutation, Striated muscle hypertrophy, medicine.symptom, ITGA7, 030217 neurology & neurosurgery, Protein Binding, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2b36e65b31362df89d2054c916b86f9Test
https://doi.org/10.1083/jcb.200804077Test -
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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: 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 -
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المؤلفون: Benedikt Schoser, Maggie C. Walter, Stefanie Bulst, Joachim Schessl, Sabine Krause, Johannes Levin, C. Kubny, Armin Giese
المصدر: Neuromuscular Disorders. 22:903
مصطلحات موضوعية: medicine.diagnostic_test, Mutant, Transfection, Biology, Immunofluorescence, Molecular biology, FHL1, Green fluorescent protein, Neurology, Western blot, Heat shock protein, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bcdb8ed2af8aeeec777a4be3051d9b7bTest
https://doi.org/10.1016/j.nmd.2012.06.329Test -
10
المؤلفون: Lynn A. Spruce, Steven S. Chin, Denny L Cottle, Roberta Battini, Arupa Ganguly, Caroline Sewry, Hans-Hilmar Goebel, Christina Anne Mitchell, Ying Hu, Baijayanta Maiti, Kevin M. Flanigan, Michael M. Rosenblatt, Yaqun Zou, Belinda S. Cowling, Meagan Jane Mcgrath, Carsten G. Bönnemann, Francesco Muntoni, Joachim Schessl, Alexander R. Judkins, Janbernd Kirschner, Jeffrey A. Golden
المصدر: Monash University
مصطلحات موضوعية: Models, Molecular, Proteomics, Molecular Sequence Data, Muscle Proteins, Biology, Transfection, Inclusion bodies, Muscular Diseases, medicine, Amino Acid Sequence, Laser capture microdissection, Inclusion Bodies, Intracellular Signaling Peptides and Proteins, Cardiac muscle, Skeletal muscle, Genetic Diseases, X-Linked, General Medicine, LIM Domain Proteins, medicine.disease, Congenital myopathy, Molecular biology, FHL1, medicine.anatomical_structure, Mutation, Myofibril, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67348d0f714db1e610a4faf29c14f512Test
https://research.monash.edu/en/publications/f7531d1a-159b-4d78-b92d-3d6159a0c800Test