المؤلفون: Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, 02-106 Warsaw, Poland.; Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland., Sulek A; Institute of Psychiatry and Neurology, 02-957 Warsaw, Poland.; Faculty of Medicine, Lazarski University, 02-662 Warsaw, Poland.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 26; Vol. 25 (15). Date of Electronic Publication: 2024 Jul 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Mutation* , TATA-Box Binding Protein*/genetics , Trinucleotide Repeat Expansion*/genetics, Humans ; Alleles ; Spinocerebellar Ataxias/genetics ; Spinocerebellar Degenerations/genetics ; Trinucleotide Repeats/genetics

SCR Disease Name: Spinocerebellar Ataxia 17

المؤلفون: Wan L; Institute of Molecular Medicine (IMM), Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.; Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, Zhejiang 310022, China., He A; Institute of Molecular Medicine (IMM), Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.; Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, Zhejiang 310022, China., Li J; ReviR Therapeutics, Shenzhen Bay Hi-Tech Ecological Park, Nanshan District, Shenzhen, Guangdong 518067, China., Guo P; Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, Zhejiang 310022, China., Han D; Institute of Molecular Medicine (IMM), Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.; Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, Zhejiang 310022, China.

المصدر: ACS chemical neuroscience [ACS Chem Neurosci] 2024 Feb 21; Vol. 15 (4), pp. 868-876. Date of Electronic Publication: 2024 Feb 06.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Chemical Society Country of Publication: United States NLM ID: 101525337 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1948-7193 (Electronic) Linking ISSN: 19487193 NLM ISO Abbreviation: ACS Chem Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Trinucleotide Repeats*/genetics , DNA Replication*, Humans ; Nucleic Acid Conformation ; Trinucleotide Repeat Expansion/genetics ; Magnetic Resonance Spectroscopy

المؤلفون: Phadte AS; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107., Bhatia M; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107., Ebert H; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107., Abdullah H; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107., Elrazaq EA; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107., Komolov KE; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107., Pluciennik A; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2023 Aug 15; Vol. 120 (33), pp. e2302103120. Date of Electronic Publication: 2023 Aug 07.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Genome-Wide Association Study* , Trinucleotide Repeats*, Humans ; Cell Extracts ; Endodeoxyribonucleases/metabolism ; Endonucleases/metabolism ; Exodeoxyribonucleases/genetics ; Exodeoxyribonucleases/metabolism ; Multifunctional Enzymes/genetics ; Proliferating Cell Nuclear Antigen/genetics ; Proliferating Cell Nuclear Antigen/metabolism ; Trinucleotide Repeat Expansion

المؤلفون: Drobotenko MI; Department of Radiophysics and Nanothechnology, Kuban State University, 350040 Krasnodar, Russian Federation., Lyasota OM; Laboratory of Problems of Stable Isotope Spreading in Living Systems, Southern Scientific Center of the Russian Academy of Sciences, 344006 Rostov-on-Don, Russian Federation., Hernandez-Caceres JL; Neurodevelopment Branch, Cuban Center for Neurosciences, 11600 La Habana, Cuba., Labrada RR; Neurodevelopment Branch, Cuban Center for Neurosciences, 11600 La Habana, Cuba., Svidlov AA; Laboratory of Problems of Stable Isotope Spreading in Living Systems, Southern Scientific Center of the Russian Academy of Sciences, 344006 Rostov-on-Don, Russian Federation., Dorohova АA; Department of Radiophysics and Nanothechnology, Kuban State University, 350040 Krasnodar, Russian Federation; Laboratory of Problems of Stable Isotope Spreading in Living Systems, Southern Scientific Center of the Russian Academy of Sciences, 344006 Rostov-on-Don, Russian Federation., Baryshev MG; Laboratory of Problems of Stable Isotope Spreading in Living Systems, Southern Scientific Center of the Russian Academy of Sciences, 344006 Rostov-on-Don, Russian Federation., Nechipurenko YD; Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 119991 Moscow, Russian Federation., Pérez LV; President's Office, Cuban Academy of Sciences, 10100 La Habana, Cuba., Dzhimak SS; Department of Radiophysics and Nanothechnology, Kuban State University, 350040 Krasnodar, Russian Federation; Laboratory of Problems of Stable Isotope Spreading in Living Systems, Southern Scientific Center of the Russian Academy of Sciences, 344006 Rostov-on-Don, Russian Federation. Electronic address: jimack@mail.ru.

المصدر: International journal of biological macromolecules [Int J Biol Macromol] 2024 Sep; Vol. 276 (Pt 1), pp. 133849. Date of Electronic Publication: 2024 Jul 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909578 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0003 (Electronic) Linking ISSN: 01418130 NLM ISO Abbreviation: Int J Biol Macromol Subsets: MEDLINE

مواضيع طبية MeSH: Ataxin-2*/genetics , Trinucleotide Repeat Expansion*/genetics , Trinucleotide Repeats*/genetics, Humans ; Base Sequence ; Torque ; Promoter Regions, Genetic/genetics ; Exons/genetics ; DNA/genetics

المؤلفون: Xu P; Department of Physics, North Carolina State University, Raleigh, NC 27695, USA. Electronic address: https://twitter.com/@XPengning., Zhang J; Department of Physics, North Carolina State University, Raleigh, NC 27695, USA., Pan F; Department of Physics, North Carolina State University, Raleigh, NC 27695, USA., Mahn C; Department of Physics, North Carolina State University, Raleigh, NC 27695, USA., Roland C; Department of Physics, North Carolina State University, Raleigh, NC 27695, USA., Sagui C; Department of Physics, North Carolina State University, Raleigh, NC 27695, USA. Electronic address: sagui@ncsu.edu., Weninger K; Department of Physics, North Carolina State University, Raleigh, NC 27695, USA. Electronic address: keith.weninger@ncsu.edu.

المصدر: Journal of molecular biology [J Mol Biol] 2023 May 15; Vol. 435 (10), pp. 168086. Date of Electronic Publication: 2023 Apr 05.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 2985088R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1089-8638 (Electronic) Linking ISSN: 00222836 NLM ISO Abbreviation: J Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: DNA*/genetics , DNA*/chemistry , Trinucleotide Repeats* , Neurodegenerative Diseases*/genetics, Humans ; DNA, Complementary ; Nucleic Acid Conformation ; Trinucleotide Repeat Expansion/genetics

المؤلفون: Seifert BA; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Reddi HV; Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI., Kang BE; Department of Pathology and Pediatrics, University of Michigan Medical School, Ann Arbor, MI; Vanderbilt University Medical Center, Nashville, TN., Bean LJH; Revvity Omics, Pittsburgh, PA., Shealy A; Cleveland Clinic Center for Personalized Genetic Healthcare, Cleveland, OH., Rose NC; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, UT.

مؤلفون مشاركون: ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net; American College of Medical Genetics and Genomics, Bethesda, MD.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Aug; Vol. 26 (8), pp. 101145. Date of Electronic Publication: 2024 Jun 05.

نوع المنشور: Journal Article; Practice Guideline

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Myotonic Dystrophy*/genetics , Myotonic Dystrophy*/diagnosis , Myotonin-Protein Kinase*/genetics , Genetic Testing*/standards , Genetic Testing*/methods , Genetics, Medical*/standards , Genetics, Medical*/methods , Trinucleotide Repeat Expansion*/genetics , Genomics*/methods , Genomics*/standards, Humans ; United States

المؤلفون: Lai Y; Department of Chemistry and Biochemistry, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA., Diaz N; Department of Chemistry and Biochemistry, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA., Armbrister R; Biochemistry Ph.D. Program, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA., Agoulnik I; Biochemistry Ph.D. Program, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA.; Biomolecular Sciences Institute, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA., Liu Y; Department of Chemistry and Biochemistry, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA.; Biochemistry Ph.D. Program, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA.; Biomolecular Sciences Institute, Florida International University, 11200 SW 8th Street, Miami, FL 33199, USA.

المصدر: Biomolecules [Biomolecules] 2024 Jul 08; Vol. 14 (7). Date of Electronic Publication: 2024 Jul 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE

مواضيع طبية MeSH: Friedreich Ataxia*/genetics , Friedreich Ataxia*/metabolism , Friedreich Ataxia*/pathology , Trinucleotide Repeat Expansion*/genetics , DNA Repair* , Frataxin* , Iron-Binding Proteins*/genetics , Iron-Binding Proteins*/metabolism , Chromatin*/metabolism , Chromatin*/genetics , Mice, Transgenic*, Animals ; Mice ; Humans ; DNA Damage ; Temozolomide/pharmacology ; Neurons/metabolism ; DNA Polymerase beta/metabolism ; DNA Polymerase beta/genetics

المؤلفون: Cadden GM; School of Chemistry, University of Glasgow, Joseph Black Building, University Avenue, Glasgow G12 8QQ, UK., Wilken SJ; School of Chemistry, University of Glasgow, Joseph Black Building, University Avenue, Glasgow G12 8QQ, UK., Magennis SW; School of Chemistry, University of Glasgow, Joseph Black Building, University Avenue, Glasgow G12 8QQ, UK.

المصدر: Nucleic acids research [Nucleic Acids Res] 2024 Aug 27; Vol. 52 (15), pp. 9317-9327.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

مواضيع طبية MeSH: DNA*/chemistry , DNA*/genetics , Nucleic Acid Conformation* , Trinucleotide Repeats*, Humans ; Microsatellite Repeats/genetics ; Single Molecule Imaging/methods

المؤلفون: Paul B; Department of Bioinformatics, Manipal School of Life Sciences, Manipal Academy of Higher Education, Manipal 576104, Karnataka, India., Siddaramappa S; Institute of Bioinformatics and Applied Biotechnology, Biotech Park, Electronic City, Bengaluru 560100, Karnataka, India.

المصدر: Genome [Genome] 2024 Aug 01; Vol. 67 (8), pp. 281-291. Date of Electronic Publication: 2024 Apr 09.

نوع المنشور: Journal Article; Comparative Study

بيانات الدورية: Publisher: Canadian Science Publishing Country of Publication: Canada NLM ID: 8704544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1480-3321 (Electronic) Linking ISSN: 08312796 NLM ISO Abbreviation: Genome Subsets: MEDLINE

مواضيع طبية MeSH: Genome, Bacterial* , Trinucleotide Repeats*, Humans ; Genetic Variation ; Bacteria/genetics ; Bacteria/classification

المؤلفون: Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. andrea.cortese@ucl.ac.uk.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. andrea.cortese@ucl.ac.uk., Beecroft SJ; Pawsey Supercomputing Research Centre, Kensington, WA, Australia., Facchini S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Curro R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Cabrera-Serrano M; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Department of Neurology and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/Universidad de Sevilla/CSIC, Sevilla, 41013, Spain., Stevanovski I; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Chintalaphani SR; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Gamaarachchi H; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia.; School of Computer Science and Engineering, University of New South Wales, Sydney, NSW, Australia., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Folland C; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Monahan G; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Scriba CK; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia., Dofash L; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Johari M; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia., Fearnley LG; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC3052, Australia., Tankard R; Department of Mathematics and Statistics, Curtin University, Perth, WA, Australia., Read J; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Merve A; Department of Neuropathology, National Hospital for Neurology and Neurosurgery, London, United Kingdom., Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Vegezzi E; IRCCS Mondino Foundation, Pavia, Italy., Schnekenberg RP; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Fernandez-Eulate G; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Masingue M; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Giovannini D; CHU Grenoble Alpes, Grenoble Institut Neurosciences, INSERM, U1216, Université Grenoble Alpes, Grenoble, France., Delatycki MB; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Storey E; Neurology Department, The Alfred Hospital, Melbourne, VIC, Australia., Gardner M; The Laboratory for Genomic Medicine, University of Otago, Dunedin, New Zealand., Amor DJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Nicholson G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Vucic S; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.; Brain and Nerve Research Centre, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Henderson RD; Department of Neurology, Royal Brisbane & Women's Hospital, Herston, QLD, Australia.; UQ Centre for Clinical Research, Herston, QLD, Australia., Robertson T; Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.; School of Biomedical Sciences, The University of Queensland, St. Lucia, QLD, Australia., Dyke J; PathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia.; School of Medicine and Pharmacology, University of Western Australia, Crawley, WA, Australia., Fabian V; PathWest Neuropathology, Royal Perth Hospital, Perth, WA, Australia., Mastaglia F; Perron Institute for Neurological and Translational Science, Nedlands, WA, Australia., Davis MR; Neurogenetics Unit, Diagnostic Genomics, PathWest, Nedlands, WA, Australia., Kennerson M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia., Quinlivan R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & MRC Centre for Neuromuscular Diseases, London, United Kingdom., Hammans S; Wessex Neurological Centre, University Hospital Southampton, Southampton, United Kingdom., Tucci A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; William Harvey Research Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1 G Royal Parade, Parkville, VIC, 3052, Australia.; Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville, VIC3052, Australia., McLean CA; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia.; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia., Laing NG; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord-Est-Ile de France, Hôpital Pitié-Salpêtrière, Institut de Myologie, APHP, Paris, France., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Deveson IW; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW, Australia., Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia., Lamont PJ; Neurogenetics Unit, Royal Perth Hospital, Perth, WA, Australia., Fahey MC; Department of Paediatrics Monash Children's Hospital, Victoria, Australia., Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Ravenscroft G; Harry Perkins Institute of Medical Research, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au.; Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia. gina.ravenscroft@uwa.edu.au.

مؤلفون مشاركون: OPDM study group

المصدر: Nature communications [Nat Commun] 2024 Jul 27; Vol. 15 (1), pp. 6327. Date of Electronic Publication: 2024 Jul 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Trinucleotide Repeat Expansion*/genetics , White People*/genetics , Muscle, Skeletal*/pathology, Humans ; Male ; Female ; Adult ; Middle Aged ; ATP-Binding Cassette Transporters/genetics ; Myopathies, Structural, Congenital/genetics ; Myopathies, Structural, Congenital/pathology ; Pedigree ; Aged ; Young Adult ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Muscle Weakness/genetics ; Muscle Weakness/pathology ; Adolescent ; Muscular Dystrophies

SCR Disease Name: Oculopharyngodistal Myopathy