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المؤلفون: Camilo Toro, Nyamkhishig Sambuughin, Jenny E. Hinshaw, Lev G. Goldfarb, Neil Renwick, Fyodor A Platonov
المصدر: Journal of Multiple Sclerosis.
مصطلحات موضوعية: Genetics, Mutation, Hereditary spastic paraplegia, Muscle weakness, Skeletal muscle, Biology, medicine.disease, medicine.disease_cause, Pleckstrin homology domain, DNM2, Atrophy, medicine.anatomical_structure, medicine, medicine.symptom, Centronuclear myopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2b1582244d9f8ee4ebd791c358a288c4Test
https://doi.org/10.4172/2376-0389.1000163Test -
2
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: 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 -
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المؤلفون: Josep Gamez, Arantxa Ortega, Lev G. Goldfarb, Albert Selva-O'Callaghan, Isidre Ferrer, Rosa Dominguez-Oronoz, Judith Armstrong, Montse Olivé, Aleksey Shatunov
المساهمون: Universitat de Barcelona
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instnameمصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Biopsy, Muscle Proteins, Biology, Muscle disorder, Article, Muscle hypertrophy, Muscular Diseases, medicine, Humans, Point Mutation, Myotilin, Missense mutation, Connectin, Malalties musculars, Family Health, Hipertròfia, Muscle Weakness, Muscle biopsy, medicine.diagnostic_test, Microfilament Proteins, Muscle weakness, Hypertrophy, Middle Aged, Magnetic Resonance Imaging, Expressió gènica, Muscle Rigidity, Fenotip, Cytoskeletal Proteins, Phenotype, Neurology, Distal Myopathies, Neurology (clinical), Gene expression, medicine.symptom
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa4cf75a61697c0731a8c7addf98f2baTest
http://hdl.handle.net/2445/127475Test -
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المؤلفون: A. Grossmann, Michel Fardeau, Montse Olivé, A. Pou, Matthias Vorgerd, Arndt Rolfs, W. Meyer, J. Pradas, Bjarne Udd, K. Eger, Rolf Schröder, Dirk Fischer, Rudolf A. Kley, Wolfram Kress, Torsten Sommer, K. Strach, Christoph M. Heyer, Angela Huebner, Lev G. Goldfarb, Jens Reimann, Carsten Meyer, Bruno Eymard
المصدر: Neurology; Vol 71
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instnameمصطلحات موضوعية: Adult, Male, Weakness, Pathology, medicine.medical_specialty, Tomography Scanners, X-Ray Computed, Adolescent, Muscle Proteins, Biology, Biceps, Desmin, 03 medical and health sciences, 0302 clinical medicine, Myofibrils, Muscular Diseases, medicine, Humans, Gracilis muscle, Myopathy, Muscle, Skeletal, 030304 developmental biology, Adaptor Proteins, Signal Transducing, Aged, Malalties musculars, 0303 health sciences, Sartorius muscle, Muscle weakness, Zaspopathy, alpha-Crystallin B Chain, Anatomy, Articles, LIM Domain Proteins, Middle Aged, medicine.disease, musculoskeletal system, Magnetic Resonance Imaging, Muscular Atrophy, Mutation, Female, Neurology (clinical), medicine.symptom, Myofibril, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d13f66d850ac4503b6b651813f9a872aTest
http://hdl.handle.net/2445/126419Test -
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المؤلفون: Margaret Burke, Aleksey Shatunov, Caroline Sewry, Stephen C. Brown, Pascale Richard, Francesco Muntoni, Lev G. Goldfarb, D. Recan, Eugenio Mercuri, Richard J. Piercy, Gisèle Bonne, R. Ben Yaou
المصدر: Brain : a journal of neurology. 129(Pt 5)
مصطلحات موضوعية: Adult, Cardiomyopathy, Dilated, Male, Adolescent, Emerin, Thymopoietins, Laminopathy, Biology, Bioinformatics, Desmin, LMNA, medicine, Humans, Muscular dystrophy, Myopathy, Muscle, Skeletal, Genetics, Myocardium, Genetic disorder, Muscle weakness, Membrane Proteins, Nuclear Proteins, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Muscular Dystrophy, Emery-Dreifuss, Pedigree, Child, Preschool, Mutation, Female, Neurology (clinical), Laminin, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede9d1d23948d8da9de81e1c50dff2eaTest
https://pubmed.ncbi.nlm.nih.gov/16585054Test -
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المؤلفون: Donna M. Krasnewich, Susan Sparks, Lev G. Goldfarb, Marjan Huizing, Ioanna Mamali, Aleksey Shatunov, Goran Rakocevic, William A. Gahl, Marinos C. Dalakas
المصدر: Molecular genetics and metabolism. 81(3)
مصطلحات موضوعية: Adult, Glycosylation, Endocrinology, Diabetes and Metabolism, Compound heterozygosity, Biochemistry, Myositis, Inclusion Body, Endocrinology, Laminin, Multienzyme Complexes, Genetics, medicine, Dystroglycan, Humans, Muscular dystrophy, Dystroglycans, Muscle, Skeletal, Molecular Biology, Extracellular Matrix Proteins, Membrane Glycoproteins, biology, Hereditary inclusion body myopathy, Skeletal muscle, Muscle weakness, Middle Aged, medicine.disease, Molecular biology, N-Acetylneuraminic Acid, Cytoskeletal Proteins, medicine.anatomical_structure, Mutation, biology.protein, Female, medicine.symptom, ITGA7, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d2a93d3af3b526cc99e072e1d349a59Test
https://pubmed.ncbi.nlm.nih.gov/14972325Test -
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المؤلفون: Aleksey Shatunov, David Hilton-Jones, Waney Squier, James W. Nagle, Bertrand Goudeau, Patrick Vicart, Jan Blancato, Ayush Dagvadorj, Lev G. Goldfarb, Monique Simon-Casteras
المصدر: Muscle and nerve. 27(6)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Proline, Physiology, DNA Mutational Analysis, Molecular Sequence Data, Muscle Fibers, Skeletal, Intermediate Filaments, macromolecular substances, Biology, medicine.disease_cause, Protein Structure, Secondary, Cell Line, Desmin, Cellular and Molecular Neuroscience, Muscular Diseases, Physiology (medical), medicine, Respiratory muscle, Humans, Genetic Testing, Respiratory system, Intermediate filament, Myopathy, Aged, Mutation, Muscle Weakness, Base Sequence, Sequence Homology, Amino Acid, Respiratory disease, Muscle weakness, Middle Aged, medicine.disease, Respiratory Paralysis, Respiratory Muscles, Female, Neurology (clinical), medicine.symptom, Respiratory Insufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::234f19a1360ff1d1cce1e0fd4b863b68Test
http://ora.ox.ac.uk/objects/uuid:b4eb305e-5da2-4ac2-90dd-68ad9e0306a3Test