المؤلفون: Satoru Noguchi, Marion Masingue, Emilia Kerty, Conrad C. Weihl, Anna Vihola, Montse Olivé, Per Harald Jonson, Manu Jokela, Peter Hackman, Ichizo Nishino, Bjarne Udd, Rocio Bengoechea, Michio Inoue, Marco Savarese, Johanna Palmio, Masanori Nakagawa, Jaakko Sarparanta

المساهمون: Department of Medical and Clinical Genetics, University of Helsinki, Medicum, Genetics, Biosciences

المصدر: Neuromuscul Disord

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, DNAJB6 gene, PROTEIN, Nerve Tissue Proteins, Biology, Article, 3124 Neurology and psychiatry, 03 medical and health sciences, symbols.namesake, HUNTINGTIN, 0302 clinical medicine, Chaperonopathy, medicine, Humans, Myopathy, Gene, Genetics (clinical), Aged, Aged, 80 and over, CHAPERONE, Sanger sequencing, Muscle biopsy, medicine.diagnostic_test, 3112 Neurosciences, HSP40 Heat-Shock Proteins, Middle Aged, AGGREGATION, Molecular biology, Pedigree, 3. Good health, Distal Myopathies, MODEL, 030104 developmental biology, Neurology, I-TASSER, Pediatrics, Perinatology and Child Health, symbols, MRJ, Female, Limb-girdle muscular dystrophy, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1575046a5e987f7d8d23feee1d7272c0
https://doi.org/10.1016/j.nmd.2019.11.005

المؤلفون: Gao Hanchao, Yi-Ming Zheng, Idriss Ali Abdoulaye, Zhijun Zhang, Jin-Hua Zhang, Fang-Yuan Qian, Zhao-Hui Pan, Chun-Ming Xie, Juan Zu, Yu-Dong Guo

المصدر: Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-20 (2021)

مصطلحات موضوعية: DNAJB6 Gene, Gene isoform, Male, Mutant, Mice, Transgenic, Nerve Tissue Proteins, Myofibrillar myopathy, Biology, medicine.disease_cause, lcsh:RC346-429, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Exon, Mice, Asian People, medicine, Animals, Humans, Gene Knock-In Techniques, Muscle, Skeletal, lcsh:Neurology. Diseases of the nervous system, Novel, Aged, Genetics, Messenger RNA, Mutation, Research, Skeletal muscle, HSP40 Heat-Shock Proteins, Distal Myopathies, medicine.anatomical_structure, HEK293 Cells, Phenotype, Neurology (clinical), DNAJB6a, Myofibril, Homozygous mutation, Molecular Chaperones, Myopathies, Structural, Congenital, Human

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b15f57ed411b510338b2320c171f54b
https://pubmed.ncbi.nlm.nih.gov/33557929

المؤلفون: Yen Hua Huang, Bing-Wen Soong, Pei-Chien Tsai, Yi-Chung Lee, Kon-Ping Lin, Hung‐Ta Wu, Yu-Shuen Tsai, Ying-Hao Chen, Yi-Chu Liao

المصدر: Clinical Genetics. 92:150-157

مصطلحات موضوعية: 0301 basic medicine, DNAJB6 Gene, Genetics, medicine.diagnostic_test, Biology, medicine.disease, Immunofluorescence, 03 medical and health sciences, 030104 developmental biology, Glycine, Mutation (genetic algorithm), medicine, Muscular dystrophy, medicine.symptom, Myopathy, Genetics (clinical), Exome sequencing, Limb-girdle muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::76a6a93010b90ae9ba388e8f50aea866
https://doi.org/10.1111/cge.13001

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المؤلفون: Bjarne Udd, Satu Sandell, Per Harald Jonson, Peter Hackman, Mari Auranen, Anna Sarkozy, Volker Straub, Kate Bushby, Sari Kiuru-Enari, Johanna Palmio, Anni Evilä, Helena Pihko

المساهمون: Department of Medical and Clinical Genetics, Haartman Institute (-2014), Medicum, Research Programs Unit, Department of Neurosciences, Clinicum, Neurologian yksikkö, Children's Hospital

المصدر: Neuromuscular Disorders. 25:835-842

مصطلحات موضوعية: DNAJB6 gene, VARIANTS, Bioinformatics, Severity of Illness Index, MYOPATHY, 0302 clinical medicine, Missense mutation, Age of Onset, Muscular dystrophy, Finland, Genetics (clinical), Exome sequencing, Genetics, Sanger sequencing, 0303 health sciences, Childhood-onset, 3. Good health, Neurology, symbols, Limb-girdle muscular dystrophy, Female, medicine.symptom, Respiratory Insufficiency, Adult, SEQUENCING DATA, Adolescent, Mutation, Missense, Nerve Tissue Proteins, White People, 03 medical and health sciences, symbols.namesake, medicine, Humans, Family, Muscle, Skeletal, Myopathy, 030304 developmental biology, business.industry, 3112 Neurosciences, HSP40 Heat-Shock Proteins, medicine.disease, HEK293 Cells, Muscular Dystrophies, Limb-Girdle, Respiratory failure, Pediatrics, Perinatology and Child Health, Neurology (clinical), Protein Multimerization, Age of onset, business, 030217 neurology & neurosurgery, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c06a39a34b16a1a454edce118d541c4b
https://doi.org/10.1016/j.nmd.2015.07.014

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المؤلفون: M. Freimer, Stanley Iyadurai, Jennifer Roggenbuck

المصدر: Neuromuscular Disorders. 25:S235-S236

مصطلحات موضوعية: DNAJB6 Gene, Genetics, Neurology, Pediatrics, Perinatology and Child Health, Locus (genetics), Neurology (clinical), Biology, Novel mutation, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d0b11b0feefc06480460137b0ce661fb
https://doi.org/10.1016/j.nmd.2015.06.185

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