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1
المؤلفون: Matthias Vorgerd, Katalin Barkovits, Joachim Schessl, Anne-Katrin Güttsches, Martin Eisenacher, Rolf Schröder, Lev G. Goldfarb, Rudolf A. Kley, Julian Uszkoreit, A. Schreiner, S. Feldkirchner, Martin Tegenthoff, Montse Olivé, A. Maerkens, Dieter O. Fürst, Benedikt Schoser, P.F.M. van der Ven, Katrin Marcus, Verena Theis
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Acta Neuropathologica Communications
Recercat. Dipósit de la Recerca de Catalunya
instnameمصطلحات موضوعية: 0301 basic medicine, Male, Proteomics, Pathology, medicine.medical_specialty, Myotilinopathy, Quantitative proteomics, Muscle Proteins, Myofibrillar myopathy, Protein aggregation, Protein degradation, Biology, Protein Aggregation, Pathological, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Muscular Diseases, Medizinische Fakultät, medicine, Myotilin, Humans, ddc:610, Muscle, Skeletal, Laser capture microdissection, Aged, Malalties musculars, Aged, 80 and over, Microscopy, Confocal, Mass spectrometry, Research, Skeletal muscle, Middle Aged, Immunohistochemistry, Espectrometria de masses, 030104 developmental biology, medicine.anatomical_structure, Mutation, Female, Neurology (clinical), Laser microdissection, Myofibril, Immunolocalization study, 030217 neurology & neurosurgery, Myopathies, Structural, Congenital
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db4b8a6544de5e31e0ee95eb88c65c12Test
http://hdl.handle.net/2445/126885Test -
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المؤلفون: Leigh B. Waddell, Lev G. Goldfarb, Giorgio Tasca, Bjarne Udd, Mauro Monforte, Nigel F. Clarke, Enzo Ricci, S. Aurino, Zagaa Odgerel
المصدر: Muscle & Nerve. 46:275-282
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, animal structures, Physiology, Filamins, macromolecular substances, Biology, medicine.disease_cause, Filamin, Muscular Dystrophies, Article, Cellular and Molecular Neuroscience, Contractile Proteins, Physiology (medical), medicine, Myofibrillar myopathy, Humans, FLNC, Muscle, Skeletal, Aged, Spinocerebellar Degenerations, Mutation, Muscle mri, Late-onset cerebellar ataxia, Cerebellar ataxia, Microfilament Proteins, musculoskeletal system, body regions, Neurology (clinical), medicine.symptom, tissues
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e2d910214b400103cac4af615ed05adTest
https://doi.org/10.1002/mus.23349Test -
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المؤلفون: Zagaa Odgerel, Andre Blokhin, Nyamkhishig Sambuughin, Hee-Suk Lee, Montse Olivé, Dolores Moreno, Nigel G. Laing, Laura Gonzalez-Mera, Lev G. Goldfarb
المصدر: Muscle & Nerve. 42:901-907
مصطلحات موضوعية: Genetics, Mutation, Candidate gene, Pathology, medicine.medical_specialty, Physiology, Chromosome, Biology, medicine.disease_cause, medicine.disease, Cellular and Molecular Neuroscience, Nemaline myopathy, Physiology (medical), Genotype, medicine, Neurology (clinical), Allele, medicine.symptom, Myopathy, Genotyping
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d8e8adbd41f36eeb8a8b43db513fa305Test
https://doi.org/10.1002/mus.21788Test -
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المؤلفون: Michel Fardeau, Montse Olivé, Francesc Miralles, L. Gonzalez, Dirk Fischer, Juan Antonio Martínez Matos, Isidre Ferrer, Aleksey Shatunov, Lev G. Goldfarb, Judith Armstrong, F Martinez, Adolf Pou
المساهمون: Universitat de Barcelona
المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelonaمصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Myocardiopathies, Biopsy, Miocardiopaties, Biology, medicine.disease_cause, Article, Desmin, Myofibrils, Muscular Diseases, medicine, Humans, Speech, Myotilin, Muscle, Skeletal, Myopathy, Gene, Pathological, Genetics (clinical), Malalties musculars, Genetics, Mutation, Myocardium, Mutació (Biologia), Middle Aged, Mutation (Biology), musculoskeletal system, Phenotype, Pedigree, Genes, Neurology, Spain, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, Myofibril, Ankle Joint, Gens
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b29472b96f39b1329aecffafe8ccccTest
https://doi.org/10.1016/j.nmd.2007.02.009Test -
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المؤلفون: Rolf Schröder, Olli Carpén, Isidro Ferrer, Mike P. Wattjes, Bertrand Goudeau, Thomas Kral, Montse Olivé, Patrick Vicart, Dirk Fischer, Petra Badorf, Christoph S. Clemen, Udo Roth, Julia Reichelt, Lev G. Goldfarb, Monica Moza, Götz Lutterbey, Dieter O. Fürst, Peter F.M. van der Ven
المصدر: Neuromuscular Disorders. 16:361-367
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Muscle Fibers, Skeletal, Mutation, Missense, Muscle Proteins, Transfection, Cell Line, Desmin, Myositis, Inclusion Body, Pathogenesis, Cricetinae, medicine, Animals, Humans, Missense mutation, Myotilin, Connectin, Age of Onset, Muscular dystrophy, Myopathy, Cytoskeleton, Genetics (clinical), Genetics, biology, Microfilament Proteins, Middle Aged, medicine.disease, Distal Myopathies, Cytoskeletal Proteins, Phenotype, Gene Expression Regulation, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Titin, Neurology (clinical), medicine.symptom, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb7f6d90c97bd4175b1b047a8ee4fc58Test
https://doi.org/10.1016/j.nmd.2006.03.007Test -
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المؤلفون: Benoît Funalot, Victor Ionasescu, Eleni Zamba-Papanicolaou, Kyproula Christodoulou, Marinos C. Dalakas, Kumaraswamy Sivakumar, Imke Puls, John L. Beggs, Anthony Antonellis, Nyamkhishig Sambuughin, Eric D. Green, Theodoros Kyriakides, Kenneth H. Fischbeck, Garth A. Nicholson, Lev G. Goldfarb
المصدر: Brain. 128:2304-2314
مصطلحات موضوعية: Adult, Glycine-tRNA Ligase, Male, Pathology, medicine.medical_specialty, Adolescent, Biopsy, Neural Conduction, Sural nerve, Biology, Muscular Atrophy, Spinal, Central nervous system disease, Glycine—tRNA ligase, Atrophy, Degenerative disease, Muscular Diseases, Sural Nerve, Charcot-Marie-Tooth Disease, medicine, Humans, Axon, Child, Muscle, Skeletal, Family Health, Denervation, Leg, Muscle Weakness, Electromyography, Middle Aged, medicine.disease, Phenotype, medicine.anatomical_structure, Mutation, Arm, Female, Neurology (clinical), Neuroscience, Sensory nerve
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac11c9821525f017e6cb3a577df370b6Test
https://doi.org/10.1093/brain/awh590Test -
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المؤلفون: Isidro Ferrer, Montse Olivé, Lev G. Goldfarb, Aleksey Shatunov, Dirk Fischer
المصدر: Brain. 128:2315-2326
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Mutation, Missense, Cardiomyopathy, Muscle Proteins, Biology, Muscular Diseases, Myofibrils, medicine, Humans, Myotilin, Connectin, Age of Onset, Family history, Muscle, Skeletal, Myopathy, Aged, Aged, 80 and over, Family Health, Leg, Muscle Weakness, Microfilament Proteins, Muscle weakness, Anatomy, Middle Aged, medicine.disease, Pedigree, Cytoskeletal Proteins, Phenotype, Peripheral neuropathy, Muscular Dystrophies, Limb-Girdle, Arm, Female, Neurology (clinical), medicine.symptom, Age of onset, Tomography, X-Ray Computed, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c1bfacda4022f6455600bbc77b12719Test
https://doi.org/10.1093/brain/awh576Test -
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المؤلفون: Alexandra Vrabie, Lev G. Goldfarb, Aleksey Shatunov, Peter Fritz, Hans H. Goebel, Andrea Nägele, Ingo Kaczmarek
المصدر: Acta Neuropathologica. 109:411-417
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Cardiomyopathy, Glutamic Acid, Biology, Distal Muscle, Desmin, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, medicine, Humans, Missense mutation, Muscle, Skeletal, Family Health, Aspartic Acid, Cardiomyopathy, Restrictive, Muscle biopsy, Staining and Labeling, medicine.diagnostic_test, Myocardium, Restrictive cardiomyopathy, alpha-Crystallin B Chain, Skeletal muscle, Exons, Anatomy, Middle Aged, medicine.disease, Immunohistochemistry, Transplantation, medicine.anatomical_structure, Chromosomes, Human, Pair 2, Mutation, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6742ca361b9edd8c445e5555b6428de5Test
https://doi.org/10.1007/s00401-005-0980-1Test -
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المؤلفون: Fernando Rodrigues-Lima, Sylvie Langlois, Patrick Vicart, Bertrand Goudeau, Monique Casteras-Simon, Patrick Nédellec, Ayush Dagvadorj, Lev G. Goldfarb, Emmanuelle Perret
المصدر: Human Mutation. 18:388-396
مصطلحات موضوعية: Genetics, 0303 health sciences, Mutation, Pathology, medicine.medical_specialty, Cardiomyopathy, Muscle weakness, macromolecular substances, Biology, medicine.disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Missense mutation, Myocyte, Desmin, medicine.symptom, Myopathy, Intermediate filament, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d20811dc7e400bcf354aa3b9d7c52899Test
https://doi.org/10.1002/humu.1210Test -
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المؤلفون: Svetlana Litvak, Marinos C. Dalakas, Hee-Suk Lee, Victor J. Ferrans, Christina Semino-Mora, Kazuyo Takeda, Lev G. Goldfarb, Kye-Yoon Park
المصدر: Clinical Genetics. 57:423-429
مصطلحات موضوعية: Genetics, Mutation, Pathology, medicine.medical_specialty, Haplotype, Muscle weakness, Single-nucleotide polymorphism, macromolecular substances, Biology, musculoskeletal system, medicine.disease, medicine.disease_cause, Loss of heterozygosity, Atrophy, medicine, Desmin, medicine.symptom, Myopathy, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0e866170d59256a486693d119184595fTest
https://doi.org/10.1034/j.1399-0004.2000.570604.xTest