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1
المؤلفون: Claudia Stöllberger, Josef Finsterer
المصدر: Expert Review of Cardiovascular Therapy. 17:95-109
مصطلحات موضوعية: medicine.medical_specialty, Biopsy, Heart Ventricles, Duchenne muscular dystrophy, Cardiomyopathy, Autopsy, 030204 cardiovascular system & hematology, Myotonic dystrophy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Internal Medicine, medicine, Humans, 030212 general & internal medicine, Myopathy, Isolated Noncompaction of the Ventricular Myocardium, medicine.diagnostic_test, business.industry, Zaspopathy, Barth syndrome, Neuromuscular Diseases, General Medicine, Prognosis, medicine.disease, Cardiac Imaging Techniques, Echocardiography, Cardiology, medicine.symptom, Cardiology and Cardiovascular Medicine, business
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2
المؤلفون: Spartaco Santi, Federico Pilla, Vittoria Cenni, Cesare Faldini, Filippo M. Santorelli, Luciano Merlini, Patrizia Sabatelli, Denise Cassandrini
المساهمون: Cassandrini D., Merlini L., Pilla F., Cenni V., Santi S., Faldini C., Santorelli F.M., Sabatelli P.
مصطلحات موضوعية: 0301 basic medicine, PDZ domain, Protein ubiquitination, Biology, 03 medical and health sciences, Psoas muscle, 0302 clinical medicine, Ubiquitin, Z-band alternatively spliced PDZ-motif protein, medicine, Autophagy, Myopathy, Genetics (clinical), Muscle biopsy, medicine.diagnostic_test, Zaspopathy, LDB3, medicine.disease, Cell biology, 030104 developmental biology, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Sarcolemmal invagination, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery
وصف الملف: ELETTRONICO
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4291196c5f78636784d4059406e06416
http://hdl.handle.net/11585/807371 -
3دورية أكاديمية
المؤلفون: Strach, Katharina, Reimann, Jens, Thomas, Daniel, Naehle, Claas P., Kress, Wolfram, Kornblum, Cornelia
المصدر: Journal of Neurology: Official Journal of the European Neurological Society. July 2012 259(7):1494-1496
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4
المؤلفون: Torsten Kraya, Frank Hanisch, Malte Kornhuber, Stephan Zierz
المصدر: Muscle & Nerve. 47:845-848
مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine.diagnostic_test, Physiology, business.industry, Myotonic discharges, Zaspopathy, Electromyography, Anatomy, Fibrillation potentials, Myotonia, medicine.disease, Cellular and Molecular Neuroscience, Physiology (medical), medicine, Myofibrillar myopathy, Neurology (clinical), FLNC, Myofibril, business
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5
المؤلفون: Bjarne Udd, Johanna Palmio
المصدر: Revue neurologique. 172(10)
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Gene mutation, 03 medical and health sciences, 0302 clinical medicine, Myofibrils, medicine, Myotilin, Humans, Myopathy, biology, business.industry, Muscle weakness, Zaspopathy, Anatomy, medicine.disease, 3. Good health, Distal Myopathies, 030104 developmental biology, Neurology, biology.protein, Titin, Desmin, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
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6
المؤلفون: Claudia Stöllberger, Josef Finsterer, Giovanni Fazio
المصدر: Current Pharmaceutical Design. 16:2895-2904
مصطلحات موضوعية: Pharmacology, medicine.medical_specialty, Pathology, Isolated Noncompaction of the Ventricular Myocardium, business.industry, Vascular disease, Mitochondrial disease, Zaspopathy, Barth syndrome, Neuromuscular Diseases, medicine.disease, Central nervous system disease, Internal medicine, Mutation, Drug Discovery, medicine, Cardiology, Animals, Humans, medicine.symptom, Inclusion body myositis, Myopathy, business, Referral and Consultation, Stroke
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2d7375544244b46f8ef475d4c694757
https://doi.org/10.2174/138161210793176437 -
7
المؤلفون: Benedikt Schoser, Rolf Schröder
المصدر: Brain Pathol
مصطلحات موضوعية: Pathology, medicine.medical_specialty, General Neuroscience, Zaspopathy, Plectin, Protein aggregation, Biology, medicine.disease, Filamin, Phenotype, Pathology and Forensic Medicine, Muscular Diseases, Myofibrils, medicine, Humans, Myotilin, Desmin, Neurology (clinical), MINI‐SYMPOSIUM: Protein Aggregate Myopathies, LIM domain
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d0d4a1f2f57fd38966a1fc4151c651
https://doi.org/10.1111/j.1750-3639.2009.00289.x -
8
المؤلفون: Duygu Selcen
المصدر: Current Opinion in Neurology. 21:585-589
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Filamins, Muscle Fibers, Skeletal, Muscle Proteins, Gene mutation, Biology, Muscular Dystrophies, Article, Desmin, Muscle pathology, Contractile Proteins, Muscular Diseases, Myofibrils, Internal medicine, medicine, Myotilin, Animals, Humans, Connectin, alpha-Crystallins, Age of Onset, Muscle, Skeletal, Genotype-Phenotype Correlations, Motilin, Genetics (clinical), Adaptor Proteins, Signal Transducing, Muscle Weakness, αb crystallin, Microfilament Proteins, Peripheral Nervous System Diseases, alpha-Crystallin B Chain, Zaspopathy, LIM Domain Proteins, musculoskeletal system, medicine.disease, beta-Crystallins, Crystallins, Cytoskeletal Proteins, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Mutation, Neurology (clinical), Apoptosis Regulatory Proteins, Myofibril
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3797cfc0a5c7f6b0aa0f7fca98d32157
https://doi.org/10.1097/wco.0b013e32830a752b -
9
المؤلفون: Bjarne Udd, Georgine Faulkner, D. Selcen, A. Vihola, I. Richard, H. Haravuori, Robert C. Griggs, K. Talvinen, B. Eymard, P. Hackman, Olli Carpén, A. Engel
المصدر: Brain. 130:1477-1484
مصطلحات موضوعية: Adult, Male, Biopsy, DNA Mutational Analysis, macromolecular substances, Dysferlin, Myosin, medicine, Humans, Myotilin, Muscle, Skeletal, Myopathy, Adaptor Proteins, Signal Transducing, Genetics, Leg, biology, Zaspopathy, LIM Domain Proteins, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Pedigree, Distal Myopathies, Haplotypes, Mutation, biology.protein, Female, Desmin, Titin, Neurology (clinical), medicine.symptom, Microsatellite Repeats
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7446f15b2f2747410c586c62afcc72d9
https://doi.org/10.1093/brain/awm006 -
10
المؤلفون: Gerhard Blazek, Claudia Stöllberger, Josef Finsterer
المصدر: International Journal of Cardiology. 110:288-300
مصطلحات موضوعية: Heart Defects, Congenital, medicine.medical_specialty, Ataxia, Heart disease, business.industry, Cardiomyopathy, Zaspopathy, Barth syndrome, Neuromuscular Diseases, Metabolic myopathy, Prognosis, medicine.disease, Myotonic dystrophy, Mitochondria, Surgery, Thromboembolism, Internal medicine, medicine, Cardiology, Humans, Hypertrophy, Left Ventricular, medicine.symptom, Muscular dystrophy, Cardiology and Cardiovascular Medicine, business