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1
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 -
2
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 -
3
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 -
4
المؤلفون: Norbert Mücke, Michel Fardeau, Harald Bär, Aleksey Shatunov, Bertrand Goudeau, Hugo A. Katus, Sarah Wälde, Harald Herrmann, Janice L. Holton, Patrick Vicart, Charles Clarke, Monique Casteras-Simon, Y. Paul Goldberg, Bruno Eymard, Lev G. Goldfarb
المصدر: Human Mutation. 28:374-386
مصطلحات موضوعية: Adult, Male, DNA, Complementary, Molecular Sequence Data, macromolecular substances, Biology, medicine.disease_cause, Protein Structure, Secondary, Desmin, Dystrophin, Protein filament, Muscular Diseases, Genetics, medicine, Humans, Point Mutation, Intermediate Filament Protein, Myocyte, Amino Acid Sequence, Muscle, Skeletal, Cytoskeleton, Intermediate filament, Genetics (clinical), Mutation, Point mutation, alpha-Crystallin B Chain, Middle Aged, Molecular biology, Pedigree, Protein Structure, Tertiary, Mutagenesis, Site-Directed, Female, Cardiomyopathies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d601731323d66071bca3af4e42e316b6Test
https://doi.org/10.1002/humu.20459Test -
5
المؤلفون: Jay Ji, Aleksey Shatunov, Yiping Zhang, Ayush Dagvadorj, Hee Suk Lee, Nyamkhishig Sambuughin, Andrew B. Singleton, Joseph Jankovic, Rodger J. Elble, John Hardy, Lev G. Goldfarb, Virginia Kimonis, Mark Hallett
المصدر: Brain. 129:2318-2331
مصطلحات موضوعية: Adult, Genetic Markers, Male, Genotype, Genetic Linkage, DNA Mutational Analysis, Locus (genetics), Biology, Genetic linkage, Tremor, Humans, Coding region, Genetic Predisposition to Disease, Age of Onset, Gene, Family Health, Genetics, Haplotype, Chromosome Mapping, Chromosome, Middle Aged, United States, Complete linkage, Pedigree, Dystonia, Phenotype, Haplotypes, Genetic marker, Chromosomes, Human, Pair 6, Female, Neurology (clinical), Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::febb8c8e8bc30eb275032e70b1e07813Test
https://doi.org/10.1093/brain/awl120Test -
6
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 -
7
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 -
8
المؤلفون: Aleksey Shatunov, Patrick Vicart, Lev G. Goldfarb, Marinos C. Dalakas, Montse Olivé, Isidro Ferrer, Ayush Dagvadorj, Anna Fidziańska, Monique Simon-Casteras, Hubert Kwieciński, Anna Kamińska, Bertrand Goudeau, Sergei V. Strelkov
المصدر: Human Genetics. 114:306-313
مصطلحات موضوعية: Adult, Male, Models, Molecular, Molecular Sequence Data, Muscle Fibers, Skeletal, macromolecular substances, Biology, Transfection, medicine.disease_cause, Desmin, Cricetinae, Genetics, medicine, Animals, Humans, Intermediate Filament Protein, Myocyte, Amino Acid Sequence, Musculoskeletal Diseases, Muscle, Skeletal, Myopathy, Genetics (clinical), Sequence Deletion, Mutation, Sequence Homology, Amino Acid, Myocardium, Middle Aged, Molecular biology, Human genetics, Pedigree, Heptad repeat, Female, medicine.symptom, Cardiomyopathies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f433619ab8d4eae65474c47291e94084Test
https://doi.org/10.1007/s00439-003-1057-7Test -
9
المؤلفون: Paul Brown, Pierluigi Gambetti, Lev G. Goldfarb, Herbert Budka, Aleksey Shatunov, Hee Suk Lee, Larisa Cervenakova, Ayush Dagvadorj, Robert B. Petersen
المصدر: Annals of Neurology. 52:355-359
مصطلحات موضوعية: Adult, Male, Amyloid, Prions, animal diseases, Biology, medicine.disease_cause, Prion Proteins, Prion Diseases, PRNP, mental disorders, medicine, Humans, Point Mutation, Protein Precursors, Child, Gene, Aged, Family Health, Genetics, Mutation, Transmissible spongiform encephalopathy, Point mutation, Haplotype, Chromosome, medicine.disease, Virology, Pedigree, nervous system diseases, Haplotypes, Neurology, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaab98b2405791bfca89429862b6618bTest
https://doi.org/10.1002/ana.10267Test -
10
المؤلفون: Marinos C. Dalakas, Kumaraswami Sivakumar, Nyamkhishig Sambuughin, Montse Olivé, Noemi Vidal, Eva Farrero, Felix Tyndel, Lev G. Goldfarb, Camilo Toro, Juan M. Bilbao
المصدر: BMC Neurology
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instnameمصطلحات موضوعية: Proband, Male, Titin A-band mutation, Titin, Myopathy, DNA Mutational Analysis, Muscle Proteins, Respiratory failure, Disability Evaluation, Missense mutation, Respiratory function, Connectin, Exome, Exome sequencing, Genetics, biology, medicine.diagnostic_test, HMERF, Respiratory organs diseases, General Medicine, Anatomy, Female, medicine.symptom, Respiratory Insufficiency, Research Article, Adult, Adolescent, Clinical Neurology, Fibronectin type III, Polymorphism, Single Nucleotide, Malalties de l'aparell respiratori, Young Adult, Muscular Diseases, medicine, Humans, Muscle Strength, Muscle, Skeletal, Malalties musculars, Family Health, Muscle biopsy, business.industry, Electromyography, Genetic Diseases, Inborn, United States, Mutation, biology.protein, Neurology (clinical), business, Tomography, X-Ray Computed, Protein Kinases, Muscles diseases
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b21e925e4f96d5aaae0cf1cac5461d18Test
https://pubmed.ncbi.nlm.nih.gov/23514108Test