-
1
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 -
2
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 -
3
المصدر: cclm. 48:1409-1414
مصطلحات موضوعية: Sequence analysis, Filamins, Pseudogene, Clinical Biochemistry, Biology, Filamin, Exon, Contractile Proteins, Muscular Diseases, medicine, Humans, FLNC, Cloning, Molecular, Myopathy, Gene, Genetics, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, Microfilament Proteins, Biochemistry (medical), DNA, Exons, Sequence Analysis, DNA, General Medicine, Molecular diagnostics, Molecular Diagnostic Techniques, Mutation, medicine.symptom, Chromosomes, Human, Pair 7
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e17b11e8784d87b190e7a159f456cd0Test
https://doi.org/10.1515/cclm.2010.272Test -
4
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 -
5
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 -
6
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 -
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: 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 -
10
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