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

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

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

المؤلفون: J. Estupinan, Hee-Suk Lee, Amos D. Korczyn, D. C. Gajdusek, Larisa Cervenakova, Patrick O. Brown, Cindy L. Vnencak-Jones, S. Richardson, J. Chapman, Robert B. Petersen, L. G. Goldfarb

المصدر: Neurology. 51:548-553

مصطلحات موضوعية: Apolipoprotein E, Periodicity, Genotype, Iatrogenic Disease, Biology, Creutzfeldt-Jakob Syndrome, Prion Diseases, PRNP, Apolipoproteins E, Risk Factors, mental disorders, medicine, Gerstmann-Straussler-Scheinker Disease, Humans, Allele, Alleles, Fatal familial insomnia, Kuru, Amyloidosis, medicine.disease, Virology, nervous system diseases, Mutation, Immunology, Neurology (clinical), Trinucleotide repeat expansion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c64bd9c6ec4b08604ef6383f05d1f102Test
https://doi.org/10.1212/wnl.51.2.548Test

المؤلفون: Saiid Bina, Barbara W. Brandom, Linda Groom, Munkhuu Bayarsaikhan, Sheila M. Muldoon, Zhen Zhi Tang, Hee-Suk Lee, Robert T. Dirksen, Xing Qiu, Nyamkhishig Sambuughin

مصطلحات موضوعية: Male, medicine.disease_cause, Sudden death, Article, Caffeine, Medicine, Humans, Exertion, Child, Gene, RYR1, Mutation, business.industry, Ryanodine receptor, Malignant hyperthermia, De novo mutation, Infant, Ryanodine Receptor Calcium Release Channel, medicine.disease, Anesthesiology and Pain Medicine, Anesthesia, Immunology, Calcium, Female, business, Malignant Hyperthermia, Pharmacogenetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ef3d9a40832cd36343711d32f918ee8Test
https://europepmc.org/articles/PMC3203251Test/

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: 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: Paul Brown, Michael P. Alpers, Ralph M. Garruto, Lev G. Goldfarb, D. Carleton Gajdusek, Larisa Cervenakova, Hee-Suk Lee

المصدر: The Journal of infectious diseases. 183(2)

مصطلحات موضوعية: Male, Amyloid, Genotype, Prions, Biology, Lower risk, Prion Proteins, PRNP, Disease Outbreaks, chemistry.chemical_compound, Germline mutation, Methionine, Polymorphism (computer science), mental disorders, medicine, Immunology and Allergy, Humans, Genetic Predisposition to Disease, Protein Precursors, Child, Codon, Genetics, New Guinea, Polymorphism, Genetic, Kuru, Outbreak, Infant, Sequence Analysis, DNA, medicine.disease, Virology, humanities, nervous system diseases, Infectious Diseases, chemistry, Child, Preschool, Mutation, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48a97191bbe8c001e4e68326d6793038Test
https://pubmed.ncbi.nlm.nih.gov/11120925Test

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