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

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: David Hilton-Jones, Kerstin Irlbacher, Isidro Ferrer, Patrick F. Chinnery, Christine Stadelmann-Nessler, Hans H. Goebel, Lev G. Goldfarb, Volker Straub, Nyamkhishig Sambuughin, Montse Olivé, Aleksey Shatunov, Maxwell S. Damian, Frank K. H. van Landeghem, Marinos C. Dalakas, Kate Bushby, Anna Kamińska, Zagaa Odgerel, Bertrand Goudeau, Munkhuu Bayarsaikhan, Hee-Suk Lee, Patrick Vicart

المصدر: European journal of human genetics : EJHG. 17(5)

مصطلحات موضوعية: Male, Filamins, DNA Mutational Analysis, Immunoblotting, Molecular Sequence Data, Immunoglobulins, macromolecular substances, Biology, medicine.disease_cause, Filamin, Article, 03 medical and health sciences, 0302 clinical medicine, Contractile Proteins, Muscular Diseases, Myofibrils, Genetics, medicine, Humans, FLNC, Amino Acid Sequence, Myopathy, Repeated sequence, Muscle, Skeletal, Gene, Peptide sequence, Genetics (clinical), 030304 developmental biology, Repetitive Sequences, Nucleic Acid, Sequence Deletion, Family Health, 0303 health sciences, Mutation, Sequence Homology, Amino Acid, Microfilament Proteins, medicine.disease, Molecular biology, Immunohistochemistry, 3. Good health, Microscopy, Electron, Female, medicine.symptom, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89f102cd786cbab19fc03e3075e2cd48Test
https://pubmed.ncbi.nlm.nih.gov/19050726Test

المؤلفون: Hee Suk Lee, Marinos C. Dalakas, Cristina Semino-Mora, Kye-Yoon Park, Lev G. Goldfarb, Kumaraswamy Sivakumar

المصدر: The New England journal of medicine. 342(11)

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, DNA, Complementary, Mutant, DNA Mutational Analysis, Muscle Fibers, Skeletal, Cardiomyopathy, Intermediate Filaments, Mutation, Missense, macromolecular substances, Biology, medicine.disease_cause, Transfection, Cell Line, Desmin, Muscular Diseases, Myofibrils, Complementary DNA, medicine, Humans, Myopathy, Intermediate filament, Sequence Deletion, Mutation, Base Sequence, General Medicine, Middle Aged, musculoskeletal system, medicine.disease, Phenotype, Female, medicine.symptom, Myofibril, Cardiomyopathies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdefd7959ade2d9e5fd02f6101603af6Test
https://pubmed.ncbi.nlm.nih.gov/10717012Test

المؤلفون: James W. Nagle, Kumaraswamy Sivakumar, Marinos C. Dalakas, Olavo M. Vasconcelos, Svetlana Gorokhova, Kye-Yoon Park, Larisa Cervenakova, Christina Semino-Mora, Hee-Suk Lee, Lev G. Goldfarb

المصدر: Nature genetics. 19(4)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Heterozygote, DNA Mutational Analysis, Molecular Sequence Data, macromolecular substances, Biology, medicine.disease_cause, Compound heterozygosity, Desmin, Muscular Diseases, Internal medicine, Cardiac conduction, Genetics, medicine, Missense mutation, Myotilin, Humans, Point Mutation, Age of Onset, Myopathy, Child, Aged, Mutation, Skeletal muscle, Middle Aged, Pedigree, Endocrinology, medicine.anatomical_structure, Child, Preschool, Female, medicine.symptom, Cardiomyopathies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b03385647e577f05690ba173d39e957Test
https://pubmed.ncbi.nlm.nih.gov/9697706Test