المؤلفون: Oksana G. Sidorova, Dmitriy G. Tikhonov, Fedor Platonov, Tatyana S. Neustroyeva, Kathrin Tyryshkin, Neil Renwick, Sardana K. Kononova, Natalya V. Yakovleva, Valerian P. Nikolaev, Lev G. Goldfarb, Tatyana M. Sivtseva

المصدر: neurogenetics. 17:179-185

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Spinocerebellar Ataxia Type 1, Population, Prevalence, Biology, Article, Birth rate, Cohort Studies, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Autosomal dominant cerebellar ataxia, Genetics, medicine, Humans, Spinocerebellar Ataxias, Selection, Genetic, Birth Rate, education, Ataxin-1, Genetics (clinical), Aged, Aged, 80 and over, education.field_of_study, Incidence, Incidence (epidemiology), Middle Aged, medicine.disease, Siberia, 030104 developmental biology, Mutation, Cohort, Spinocerebellar ataxia, Female, Genetic Fitness, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::304e72447d444808fed26b0db9cab6e9Test
https://doi.org/10.1007/s10048-016-0481-5Test

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

المؤلفون: Vera Y. Matrosova, Wieslaw Swietnicki, Tarina Wallace, Stephen M. Techtmann, Ernest L. Maynard, Lev G. Goldfarb, Nyamkhishig Sambuughin

المصدر: Biochemical and Biophysical Research Communications. 421:743-749

مصطلحات موضوعية: Cytoplasm, Ubiquitin-Protein Ligases, Biophysics, Muscle Proteins, Muscle disorder, Myopathies, Nemaline, medicine.disease_cause, Biochemistry, Article, Mice, Protein structure, Ubiquitin, medicine, Animals, Humans, Molecular Biology, Actin, Mutation, biology, Cell Biology, Cullin Proteins, Molecular biology, Protein Structure, Tertiary, Ubiquitin ligase, Proteasome, NIH 3T3 Cells, biology.protein, Cullin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::558519625e4e1e96c9385be7fc47a4f6Test
https://doi.org/10.1016/j.bbrc.2012.04.074Test

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 Barcelona

مصطلحات 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

المؤلفون: Matthias Vorgerd, Peter F.M. van der Ven, Lev G. Goldfarb, Montse Olivé, Rudolf A. Kley, Dieter O. Fürst

المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname

مصطلحات موضوعية: Distròfia muscular, Pathology, medicine.medical_specialty, Filamins, Nonsense mutation, Biology, Filamin, Article, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Contractile Proteins, Muscular Diseases, medicine, Animals, Humans, Myocyte, FLNC, Myopathy, Malalties musculars, Microfilament Proteins, medicine.disease, Muscular dystrophy, Phenotype, Mutation, Neurology (clinical), medicine.symptom, Haploinsufficiency, Myofibril, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d673ac0a2ba239901cb87f704bcd070Test
http://hdl.handle.net/2445/124284Test

المؤلفون: Catherine McGorrian, Paul Maddison, Caroline Sewry, Hee Suk-U.-K. Lee, Aleksey Shatunov, Lev G. Goldfarb, John B Winer, Maxwell S. Damian, Zagaa Odgerel

المصدر: European neurology. 68(5)

مصطلحات موضوعية: Adult, Male, Intermediate Filaments, Biology, medicine.disease_cause, Article, Desmin, Muscular Diseases, medicine, Myofibrillar myopathy, Humans, In patient, Intermediate filament, Aged, Genetics, Mutation, Middle Aged, Phenotype, Skeletal myopathy, Pedigree, Neurology, Domain (ring theory), Female, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dfd94060c5490672754ddcd5292af4eTest
https://pubmed.ncbi.nlm.nih.gov/23051780Test

المؤلفون: Catriona McLean, Paul Brown, Beata Sikorska, Johannes A. Hainfellner, Pawel P. Liberski, Shirley Lindenbaum, Lev G. Goldfarb

المصدر: Journal of neuropathology and experimental neurology. 71(2)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Prions, animal diseases, Population, Disease, Neuropathology, Biology, Creutzfeldt-Jakob Syndrome, Article, Pathology and Forensic Medicine, PRNP, Cellular and Molecular Neuroscience, Genotype, Glial Fibrillary Acidic Protein, medicine, Cannibalism, Gerstmann-Straussler-Scheinker Disease, Humans, Allele, education, education.field_of_study, Transmissible spongiform encephalopathy, Kuru, Brain, General Medicine, medicine.disease, Virology, humanities, nervous system diseases, Neurology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e373ff0e29ed19c9be7f888ad217c97Test
https://pubmed.ncbi.nlm.nih.gov/22249461Test

المؤلفون: Federico Garcia Bragado, Laura Gonzalez-Mera, Ramón J. Zabalza, M. Huerta, Elías Maraví, Judith Armstrong, Lev G. Goldfarb, Jordi Pascual-Calvet, Eduardo Gutierrez Rivas, Carmen Navarro, Hee Suk Lee, Adolf Pou, Fabian Marquez, Carmen Paradas, Juan José Poza, I. Jericó, Montse Olivé, Maria Antonia Ramos Arroyo, Isidre Ferrer, Aleksey Shatunov, A. Martinez, Zagaa Odgerel

المساهمون: Universitat de Barcelona

المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Biopsy, Muscle Proteins, Biology, medicine.disease_cause, Article, Desmin, Young Adult, Myofibrils, Muscular Diseases, medicine, Malalties hereditàries, Genetics, Myotilin, Humans, Respiratory function, Connectin, FLNC, Age of Onset, Espanya, Genetics (clinical), Adaptor Proteins, Signal Transducing, Aged, Retrospective Studies, Malalties musculars, Mutation, Muscle biopsy, medicine.diagnostic_test, Microfilament Proteins, LIM Domain Proteins, Middle Aged, Magnetic Resonance Imaging, Cytoskeletal Proteins, Phenotype, Neurology, Spain, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Age of onset, Genètica, Genetic diseases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f59162b8e90c9de5363a74e5b59f8542Test
http://hdl.handle.net/2445/126272Test

المؤلفون: Francalanci Paola, Adele D'Amico, Enrico Bertini, Kate Bushby, Julia Rankin, Caoimhe McKenna, Hanns Lochmüller, Lev G. Goldfarb, Zagaa Odgerel, Volker Straub, Hee Suk Lee, Anna Sarkozy

مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Proline, Genetic counseling, DNA Mutational Analysis, Cardiomyopathy, Biology, medicine.disease_cause, Asymptomatic, Article, Young Adult, Muscular Diseases, Sural Nerve, Leucine, medicine, Inheritance Patterns, Humans, Child, Genetics (clinical), Adaptor Proteins, Signal Transducing, Genetics, Family Health, Mutation, medicine.disease, Phenotype, Actin Cytoskeleton, Neurology, Pediatrics, Perinatology and Child Health, Microscopy, Electron, Scanning, Female, Neurology (clinical), medicine.symptom, Myofibril, Apoptosis Regulatory Proteins, Limb-girdle muscular dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b86fbc452764fc33d12f74c96b75f69fTest
https://europepmc.org/articles/PMC2900409Test/

المؤلفون: Menachem Sadeh, Baruch El-Ad, Jean-Pierre Bouchard, Vivian E. Drory, Galina B. Groozman, Sergiu C. Blumen, Uri Soimu, Lev G. Goldfarb

مصطلحات موضوعية: Adult, Glycine-tRNA Ligase, Male, Pathology, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Neural Conduction, Biology, Gene mutation, Article, Glycine—tRNA ligase, Cohort Studies, Muscular Atrophy, Spinal, Exon, Young Adult, Atrophy, medicine, Humans, Amyotrophic lateral sclerosis, Gene, Genetics, Electromyography, General Medicine, medicine.disease, Hand, Penetrance, Magnetic Resonance Imaging, Neurology, Spinal Cord, Cervical Vertebrae, Cold sensitivity, Neurology (clinical), medicine.symptom, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6415b5540cac3aef141cc40439875932Test
https://europepmc.org/articles/PMC2864347Test/