Zobrazeno 1 - 10 of 55 883 pro vyhledávání: '"MYOPATHY"'
1
Akademický článek
[Clinical features and genetic analysis of a child with Central core disease due to compound heterozygous variants of RYR1 gene].
Autor: Liu S; Third Ward of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. lyf6012@163.com., Mao S, Li B, Wei L, Liu Y
Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 May 10; Vol. 41 (5), pp. 581-585.
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2
Akademický článek
A case report of central core disease with repeated foaming at the mouth as the initial symptom.
Autor: Zhang QY; Department of Pediatrics, the First Affiliated Hospital of Hainan Medical College, Haikou, China., Yin YY, Bai L, Xu X
Publikováno v: Medicine [Medicine (Baltimore)] 2023 Dec 01; Vol. 102 (48), pp. e36332.
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3
Akademický článek
Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.
Autor: Driver K; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Vo C; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Scriba CK; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA, Australia., Saker S; Genethon, DNA and Cell Bank, 91000 Evry, France., Larmonier T; Genethon, DNA and Cell Bank, 91000 Evry, France., Malfatti E; APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, France; Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil, France., Romero NB; Sorbonne Université, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Pitié-Salpêtrière, Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Ravenscroft G; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Laing NG; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Taylor RL; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Clayton JS; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia. Electronic address: joshua.clayton@perkins.org.au.
Publikováno v: Stem cell research [Stem Cell Res] 2023 Dec; Vol. 73, pp. 103258. Date of Electronic Publication: 2023 Nov 22.
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4
Akademický článek
Central Core Myopathy: A Case Report of a Rare Etiology of Myogenic Blepharoptosis.
Autor: Keen JA; Department of Ophthalmology (JAK, RAB, EHB), Kresge Eye Institute, Detroit, Michigan; and Consultants in Ophthalmic and Facial Plastic Surgery (RAB, EHB), Southfield, Michigan., Beaulieu RA, Black EH
Publikováno v: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2023 Dec 01; Vol. 43 (4), pp. e300-e301. Date of Electronic Publication: 2021 Dec 16.
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5
Akademický článek
A brief history of the congenital myopathies - the myopathological perspective.
Autor: Goebel HH; Institute of Neuropathology, Charite Universitätsmedizin, Berlin, Germany; Department of Neuropathology, Universitätsmedizin, Mainz, Germany. Electronic address: hans-hilmar.goebel@charite.de., Stenzel W; Institute of Neuropathology, Charite Universitätsmedizin, Berlin, Germany.
Publikováno v: Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Dec; Vol. 33 (12), pp. 990-995. Date of Electronic Publication: 2023 Oct 17.
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6
Akademický článek
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.
Autor: de Feraudy, Yvan1,2,3 (AUTHOR), Vandroux, Marie1 (AUTHOR), Romero, Norma Beatriz4 (AUTHOR), Schneider, Raphaël1 (AUTHOR), Saker, Safaa5 (AUTHOR), Boland, Anne6 (AUTHOR), Deleuze, Jean-François6 (AUTHOR), Biancalana, Valérie1,7 (AUTHOR), Böhm, Johann1 (AUTHOR), Laporte, Jocelyn1 (AUTHOR) jocelyn@igbmc.fr
Publikováno v: Genome Medicine. 7/9/2024, Vol. 16 Issue 1, p1-15. 15p.
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7
Akademický článek
Congenital Myopathy-1B due to RYR 1 Gene Mutation in Three Libyan Families.
Autor: Etarhuni, Samira1 (AUTHOR) samiraracd@yahoo.com, Kara, Majdi2 (AUTHOR), Alghazir, Nadia3 (AUTHOR)
Publikováno v: Ibnosina Journal of Medicine & Biomedical Sciences. Jun2024, Vol. 16 Issue 2, p77-84. 8p.
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8
Report
A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.
Autor: Baker EK; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States., Al Gharaibeh FN; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States.; Division of Neonatology, Cincinnati Children's Hospital Medicine, Cincinnati, Ohio, United States., Bove K; Division of Pathology, Cincinnati Children's Hospital, Cincinnati, Ohio, United States., Calvo-Garcia MA; Radiology Department, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States., Shillington A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States., VandenHeuvel K; Division of Pathology, Cincinnati Children's Hospital, Cincinnati, Ohio, United States., Cortezzo DE; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States.; Division of Neonatology, Cincinnati Children's Hospital Medicine, Cincinnati, Ohio, United States.; Department of Anesthesia, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States.; Division of Pain and Palliative Medicine, Cincinnati Children's Hospital Medicine, Cincinnati, Ohio, United States.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jun; Vol. 191 (6), pp. 1646-1651. Date of Electronic Publication: 2023 Mar 25.
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9
Akademický článek
Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene.
Autor: Clayton JS; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia. Electronic address: joshua.clayton@perkins.org.au., Vo C; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Crane J; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Scriba CK; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA, Australia., Saker S; Genethon, DNA and Cell Bank, 91000 Evry, France., Larmonier T; Genethon, DNA and Cell Bank, 91000 Evry, France., Malfatti E; APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, France; Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil, France., Romero NB; Sorbonne Université, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Pitié-Salpêtrière, Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Ravenscroft G; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Laing NG; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Taylor RL; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.
Publikováno v: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103411. Date of Electronic Publication: 2024 Mar 31.
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10
Akademický článek
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.
Autor: Clayton JS; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia. Electronic address: joshua.clayton@perkins.org.au., Vo C; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Crane J; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Scriba CK; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA, Australia., Saker S; Genethon, DNA and Cell Bank, 91000 Evry, France., Larmonier T; Genethon, DNA and Cell Bank, 91000 Evry, France., Malfatti E; APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, France; Université Paris Est, U955, INSERM, IMRB, F-94010 Créteil, France., Romero NB; Sorbonne Université, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Pitié-Salpêtrière, Paris, France; Centre de Référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Ravenscroft G; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Laing NG; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia., Taylor RL; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.
Publikováno v: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103410. Date of Electronic Publication: 2024 Mar 30.
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