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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: 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: 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 -
4
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 -
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المؤلفون: F.X. Glocker, Florian Heinen, Volker Mall, Urban M. Fietzek, Joachim Schessl, Steffen Berweck, Michael Walther, M. Linder-Lucht
المصدر: Braindevelopment. 31(7)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Aging, Adolescent, medicine.medical_treatment, Electromyography, Audiology, Inhibitory postsynaptic potential, Efferent Pathways, Young Adult, Child Development, Developmental Neuroscience, Neuroplasticity, medicine, Humans, Child, medicine.diagnostic_test, Interstimulus interval, Motor Cortex, Neural Inhibition, General Medicine, Adolescent Development, Evoked Potentials, Motor, Transcranial Magnetic Stimulation, Transcranial magnetic stimulation, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Excitatory postsynaptic potential, Female, Neurology (clinical), Primary motor cortex, Psychology, Neuroscience, Motor cortex
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13288c5531b3ea38a0aa25c69db5b755Test
https://pubmed.ncbi.nlm.nih.gov/19329268Test -
8
المؤلفون: Rudolf Korinthenberg, Joachim Schessl, Janbernd Kirschner
المصدر: Neuropediatrics. 38(1)
مصطلحات موضوعية: Artificial ventilation, Male, Pediatrics, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Neural Conduction, Myelitis, Guillain-Barre Syndrome, Nerve conduction velocity, medicine, Humans, Prospective Studies, Prospective cohort study, Child, Gait Disorders, Neurologic, Guillain-Barre syndrome, medicine.diagnostic_test, business.industry, Infant, Cerebrospinal Fluid Proteins, General Medicine, Recovery of Function, medicine.disease, Surgery, El Niño, Child, Preschool, Pediatrics, Perinatology and Child Health, Neuropathic pain, Nerve conduction study, Neuralgia, Female, Neurology (clinical), business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc4247532a62e29d83ddd8a11d84b751Test
https://pubmed.ncbi.nlm.nih.gov/17607598Test -
9
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 -
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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