المؤلفون: C. Wicking, J.R. Vermeesch, H. Schmitt, L. Lim, Sd. Wilton, K. Yamada, S.D. Dorosz, C. Le Chalony, I. Bar-Am, A.L Grant, H. Van den Berghe, H. Hayes, C. Welter, David F. Callen, D. Olde Weghuis, G. Goubin, Norman A. Doggett, R. Matsuoka, C.Y. Nagamachi, M. Echevarria, H. Shizuya, E. Meyen, N. BIin, D. Mercier, M. Horowitz, K. Kohno, G.H. Holmes, L. Avivi, D.E. Miller, A. Geurts van Kessel, M. Schwarz, Y. Furutani, W.J.M. Van de Ven, K. Negus, D.J. Law, Martijn H. Breuning, W. De Meurichy, E. Payen, R.M.S. Barros, K. Tanzawa, D.F. Callen, T. Shiraki, S. Rodríguez de Córdoba, K. Kas, N.G. Laing, H.C. Gunn, J.A.P.C. Muniz, J.A.F. van Boxtel, D. Heine-Suñer, T.W. Glover, P.M.T. Deen, P. Marynen, H. Hoshikawa, M.I. Simon, S.L. Naylor, C. Bignon, S. Beck, T. Ikura, I. Wundrack, B.J. Wainwright, C.H. van Os, P. Petit, J.C. Pieczarka, E.M. Petty, H.J. Eyre, T. Masaki, M. Yoshida, M.H. Little, P. Gött, E.E. Collins, K. Shimada, M.S. Mattevi, I. Wlodarska, T. Sawamura, F. Pardo-Manuel de Villena, S.M. Mulders

المصدر: Cytogenetic and Genome Research. 72:I-IV

مصطلحات موضوعية: Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0dafd06900c2648c38df94e69fd09cf4
https://doi.org/10.1159/000134203

المؤلفون: Van Der Merwe Z; 4Wounds Wound Care Clinic, Pretoria, South Africa., Wilton SD; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, Western Australia.; Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, Western Australia., Sandy-Hodgetts K; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, Western Australia.; Senior Research Fellow, School of Biomedical Sciences, University of Western Australia.

المصدر: Journal of wound care [J Wound Care] 2024 Aug 02; Vol. 33 (Sup8), pp. S4-S8.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MA Healthcare Country of Publication: England NLM ID: 9417080 Publication Model: Print Cited Medium: Internet ISSN: 0969-0700 (Print) Linking ISSN: 09690700 NLM ISO Abbreviation: J Wound Care Subsets: MEDLINE

مواضيع طبية MeSH: Surgical Wound Infection*/epidemiology , Surgical Wound Infection*/etiology , Orthopedic Procedures*/adverse effects, Humans ; Risk Factors ; South Africa ; Africa South of the Sahara

المؤلفون: Murphy AJ; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA, Australia.; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Perth, WA, Australia., Wilton SD; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA, Australia.; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Perth, WA, Australia., Aung-Htut MT; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA, Australia.; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Perth, WA, Australia., McIntosh CS; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA, Australia.; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Perth, WA, Australia.

المصدر: Frontiers in molecular neuroscience [Front Mol Neurosci] 2024 Jul 24; Vol. 17, pp. 1391564. Date of Electronic Publication: 2024 Jul 24 (Print Publication: 2024).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477914 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5099 (Print) Linking ISSN: 16625099 NLM ISO Abbreviation: Front Mol Neurosci Subsets: PubMed not MEDLINE

المؤلفون: Poudel BH; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, WA 6150, Australia.; Perron Institute for Neurological and Translational Science, The University of Western Australia, Perth, WA 6009, Australia.; Central Department of Biotechnology, Tribhuvan University, Kirtipur, Kathmandu 44618, Nepal., Fletcher S; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, WA 6150, Australia., Wilton SD; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, WA 6150, Australia.; Perron Institute for Neurological and Translational Science, The University of Western Australia, Perth, WA 6009, Australia., Aung-Htut M; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, WA 6150, Australia.; Perron Institute for Neurological and Translational Science, The University of Western Australia, Perth, WA 6009, Australia.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 May 21; Vol. 25 (11). Date of Electronic Publication: 2024 May 21.

نوع المنشور: Journal Article; Review

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: Muscular Dystrophies, Limb-Girdle*/therapy , Muscular Dystrophies, Limb-Girdle*/genetics , Muscular Dystrophies, Limb-Girdle*/diagnosis , Dysferlin*/genetics , Dysferlin*/metabolism , Genetic Therapy*/methods , Mutation*, Humans ; Oligonucleotides, Antisense/therapeutic use ; Animals

SCR Disease Name: Limb-girdle muscular dystrophy, type 2B

المؤلفون: Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Guirguis F; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Dana-Dwek Children's Hospital, Tel Aviv 64239, Israel., McCarty RM; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Sarathy A; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Norato G; Clinical Trials Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Cummings BB; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Lek M; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK., Butterfield RJ; Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, UT 84132, USA., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg 79110, Germany., Nascimento A; Neuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu. CIBERER ISCIII. Barcelona 08950, Spain., Benito DN; Neuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu. CIBERER ISCIII. Barcelona 08950, Spain., Quijano-Roy S; Garches Neuromuscular Reference Center, Child Neurology and ICU Department, APHP Raymond Poincare University Hospital (UVSQ Paris Saclay), Garches 92380, France., Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris 75013, France., Merlini L; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40126, Italy., Comi G; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Ryan M; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia., McDonald D; Department of Neurodisability, Children's Health Ireland at Tallaght, Dublin 24 Ireland., Munot P; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK., Yoon G; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada., Leung E; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada., Finanger E; Department of Pediatrics and Neurology, Oregon Health & Science University, Portland, OR 97239, USA., Leach ME; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Department of Pediatrics and Neurology, Oregon Health & Science University, Portland, OR 97239, USA., Collins J; Divisions of Neurology and Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Tian C; Divisions of Neurology and Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Cocanougher BT; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA., Chu ML; Department of Neurology, New York University School of Medicine, New York, NY 10016, USA., Scavina M; Division of Neurology, Nemours Children's Hospital Delaware, Wilmington, DE 19803, USA., Grosmann C; Department of Neurology, Rady Children's Hospital University of California San Diego, San Diego, CA 92123, USA., Richardson R; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA., Kossak BD; Department of Neurology, Dartmouth Hitchcock Medical Center, Lebanon, NH 03766, USA., Gospe SM Jr; Department of Neurology and Pediatrics, University of Washington, Seattle, WA 98105, USA., Bhise V; Departments of Pediatrics and Neurology, Rutgers Robert Wood Johnson Medical School, Rutgers University, New Brunswick, NJ 08901, USA., Taurina G; Children's Clinical University Hospital, Medical Genetics and Prenatal Diagnostic Clinic, Riga 1004, Latvia., Lace B; Riga East Clinical University, Institute of Clinical and Preventive Medicine of the University of Latvia, Riga 1586, Latvia., Troncoso M; Pediatric Neuropsychiatry Service, Hospital Clínico San Borja Arriarán, Pediatric Department, Universidad de Chile, Santiago 1234, Chile., Shohat M; The Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan 52621, Israel., Shalata A; The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 32000, Israel., Chan SHS; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Jokela M; Clinical Neurosciences, University of Turku, Turku, Finland and Neurocenter, Turku University Hospital, Turku 20520, Finland.; Neuromuscular Research Center, Tampere University and Tampere University Hospital, Tampere 33101, Finland., Palmio J; Neuromuscular Research Center, Tampere University and Tampere University Hospital, Tampere 33101, Finland., Haliloğlu G; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara 06230, Turkey., Jou C; Pathology department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona 08950, Spain., Gartioux C; INSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, Paris 75013, France., Solomon-Degefa H; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany., Freiburg CD; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany., Schiavinato A; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany., Zhou H; National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, Genetics and Genomic Medicine Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Aguti S; Neurodegenerative Disease Department, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Nevo Y; Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel., Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan., Jimenez-Mallebrera C; Laboratorio de Investigación Aplicada en Enfermedades Neuromusculares, Unidad de Patología Neuromuscular, Servicio de Neuropediatría, Institut de Recerca Sant Joan de Déu, Barcelona 08950, Spain., Lamandé SR; Department of Paediatrics, University of Melbourne, The Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Allamand V; INSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, Paris 75013, France., Gualandi F; Unit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara 44121, Italy., Ferlini A; Unit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara 44121, Italy., MacArthur DG; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Wilton SD; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University; Centre for Neuromuscular and Neurological Disorders, Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, WA 6009, Australia., Wagener R; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany., Bertini E; Research Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK.; National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, UK., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Mar 29. Date of Electronic Publication: 2024 Mar 29.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Cale JM; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, 90 South Street, Murdoch, WA, 6150, Australia., Ham KA; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, 90 South Street, Murdoch, WA, 6150, Australia.; Perron Institute for Neurological and Translational Science, Perth, WA, 6009, Australia., Li D; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, 90 South Street, Murdoch, WA, 6150, Australia.; Perron Institute for Neurological and Translational Science, Perth, WA, 6009, Australia., McIntosh CS; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, 90 South Street, Murdoch, WA, 6150, Australia.; Perron Institute for Neurological and Translational Science, Perth, WA, 6009, Australia., Watts GF; School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, 6009, Australia.; Cardiometabolic Clinic, Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, WA, 6000, Australia., Wilton SD; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, 90 South Street, Murdoch, WA, 6150, Australia.; Perron Institute for Neurological and Translational Science, Perth, WA, 6009, Australia., Aung-Htut MT; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, 90 South Street, Murdoch, WA, 6150, Australia. m.aung-htut@murdoch.edu.au.; Perron Institute for Neurological and Translational Science, Perth, WA, 6009, Australia. m.aung-htut@murdoch.edu.au.

المصدر: Scientific reports [Sci Rep] 2023 Nov 13; Vol. 13 (1), pp. 19725. Date of Electronic Publication: 2023 Nov 13.

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

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Proprotein Convertase 9*/genetics , Proprotein Convertase 9*/metabolism , Serine Endopeptidases*/metabolism, Alternative Splicing ; Proprotein Convertases/metabolism ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Receptors, LDL/genetics ; Receptors, LDL/metabolism ; Humans

المؤلفون: Ham KA; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Murdoch, WA, Australia.; Perron Institute for Neurological and Translational Science, Nedlands, WA, Australia.; Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Crawley, WA, Australia., Johnsen RD; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Murdoch, WA, Australia.; Perron Institute for Neurological and Translational Science, Nedlands, WA, Australia.; Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Crawley, WA, Australia., Tchan M; Genetic Medicine, Westmead Hospital, Sydney, Australia.; Sydney Medical School, The University of Sydney, Sydney, Australia., Wilton SD; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Murdoch, WA, Australia.; Perron Institute for Neurological and Translational Science, Nedlands, WA, Australia.; Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Crawley, WA, Australia., Aung-Htut MT; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Murdoch, WA, Australia. m.aung-htut@murdoch.edu.au.; Perron Institute for Neurological and Translational Science, Nedlands, WA, Australia. m.aung-htut@murdoch.edu.au.; Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Crawley, WA, Australia. m.aung-htut@murdoch.edu.au.

المصدر: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2023; Vol. 2587, pp. 239-251.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Glycogen Storage Disease Type II*/genetics , Glycogen Storage Disease Type II*/therapy, Humans ; Adult ; Morpholinos/genetics ; RNA Splicing ; Mutation ; RNA, Messenger/genetics

المؤلفون: Huang D; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia., Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia., Chen SC; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia., Adams A; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia., Pitout I; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia., Lima A; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia., Zhang D; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia., Jeffery RCH; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Royal Victorian Eye and Ear Hospital, Centre for Eye Research Australia, East Melbourne, Victoria, Australia., Attia MS; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia., McLaren TL; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia., Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia., De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia., McLenachan S; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia., Aung-Htut MT; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Australia., Fletcher S; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Australia; PYC Therapeutics, Harry Perkins Institute of Medical Research, Verdun St, Nedlands, Western Australia, Australia., Wilton SD; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Australia., Chen FK; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia; Ophthalmology, Department of Surgery, University of Melbourne, East Melbourne, Victoria, Australia; Royal Victorian Eye and Ear Hospital, Centre for Eye Research Australia, East Melbourne, Victoria, Australia. Electronic address: fred.chen@lei.org.au.

المصدر: Experimental eye research [Exp Eye Res] 2022 Dec; Vol. 225, pp. 109276. Date of Electronic Publication: 2022 Oct 06.

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

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 0370707 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0007 (Electronic) Linking ISSN: 00144835 NLM ISO Abbreviation: Exp Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: ATP-Binding Cassette Transporters*/genetics , Retinal Diseases*/genetics, Humans ; Stargardt Disease/genetics ; Introns/genetics ; Australia ; Exons/genetics ; Mutation ; Fibroblasts ; Pedigree

المؤلفون: Li D; Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Australia.; College of Nursing and Health, Zhengzhou University, Zhengzhou, China., Mastaglia FL; Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Australia., Yau WY; Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, Australia., Chen S; Department of Neurology and Institute of Neurology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China., Wilton SD; Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Australia., Akkari PA; Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Australia.; Department of Neurology, Duke University, Durham, North Carolina, USA.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2022 Nov; Vol. 37 (11), pp. 2184-2190. Date of Electronic Publication: 2022 Aug 29.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Oligonucleotides, Antisense*/therapeutic use , Parkinson Disease*/drug therapy , Parkinson Disease*/genetics, Humans

المؤلفون: Zaw K; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Murdoch, Western Australia, Australia.; Lions Eye Institute, Nedlands, Western Australia, Australia.; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Carvalho LS; Lions Eye Institute, Nedlands, Western Australia, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia., Aung-Htut MT; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Murdoch, Western Australia, Australia.; Perron Institute for Neurological and Translational Science, University of Western Australia, Nedlands, Western Australia, Australia., Fletcher S; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Murdoch, Western Australia, Australia.; Perron Institute for Neurological and Translational Science, University of Western Australia, Nedlands, Western Australia, Australia., Wilton SD; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Murdoch, Western Australia, Australia.; Perron Institute for Neurological and Translational Science, University of Western Australia, Nedlands, Western Australia, Australia., Chen FK; Lions Eye Institute, Nedlands, Western Australia, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia.; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia.; Ophthalmology, Department of Surgery, University of Melbourne, East Melbourne, Victoria, Australia., McLenachan S; Lions Eye Institute, Nedlands, Western Australia, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia.

المصدر: Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) [Asia Pac J Ophthalmol (Phila)] 2022 Jul-Aug 01; Vol. 11 (4), pp. 369-379. Date of Electronic Publication: 2022 Aug 17.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Inc. on behalf of Asia-Pacific Academy of Ophthalmology and Academy of Asia-Pacific Professors of Ophthalmology Country of Publication: United States NLM ID: 101583622 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2162-0989 (Electronic) Linking ISSN: 21620989 NLM ISO Abbreviation: Asia Pac J Ophthalmol (Phila) Subsets: MEDLINE

مواضيع طبية MeSH: Retinitis Pigmentosa*/genetics , Usher Syndromes*/diagnosis , Usher Syndromes*/genetics , Usher Syndromes*/therapy, Animals ; Humans ; Mutation ; Retina

SCR Disease Name: Usher syndrome, type 2A