المؤلفون: 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

المصدر: 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.

نوع المنشور: Journal Article; Case Reports; English Abstract

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Ryanodine Receptor Calcium Release Channel*/genetics , Heterozygote* , Myopathy, Central Core*/genetics, Humans ; Male ; Child ; Exome Sequencing ; Mutation ; Genetic Testing

المؤلفون: Zhang QY; Department of Pediatrics, the First Affiliated Hospital of Hainan Medical College, Haikou, China., Yin YY, Bai L, Xu X

المصدر: Medicine [Medicine (Baltimore)] 2023 Dec 01; Vol. 102 (48), pp. e36332.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE

مواضيع طبية MeSH: Myopathy, Central Core*/complications , Myopathy, Central Core*/diagnosis , Muscular Diseases*/complications, Infant ; Child ; Humans ; Muscle Weakness/etiology ; Muscle Hypotonia ; Tongue

المؤلفون: 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.

المصدر: Stem cell research [Stem Cell Res] 2023 Dec; Vol. 73, pp. 103258. Date of Electronic Publication: 2023 Nov 22.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Myopathy, Central Core*/genetics , Myopathy, Central Core*/metabolism , Induced Pluripotent Stem Cells*/metabolism, Male ; Humans ; Adult ; Ryanodine Receptor Calcium Release Channel/genetics ; Ryanodine Receptor Calcium Release Channel/metabolism ; Mutation

المؤلفون: 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.

المصدر: Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Dec; Vol. 33 (12), pp. 990-995. Date of Electronic Publication: 2023 Oct 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

مواضيع طبية MeSH: Myopathies, Structural, Congenital*/pathology , Myopathies, Nemaline*/genetics , Myopathies, Nemaline*/pathology , Myopathy, Central Core*/pathology, Humans ; Ryanodine Receptor Calcium Release Channel/genetics ; Muscles/pathology ; Mutation ; Muscle, Skeletal/pathology

المؤلفون: 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

المصدر: 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.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9431308 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-5166 (Electronic) Linking ISSN: 10708022 NLM ISO Abbreviation: J Neuroophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Blepharoptosis*/diagnosis , Blepharoptosis*/etiology , Myopathy, Central Core*/complications, Humans

المؤلفون: 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.

المصدر: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103411. Date of Electronic Publication: 2024 Mar 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Ryanodine Receptor Calcium Release Channel*/genetics , Ryanodine Receptor Calcium Release Channel*/metabolism , Induced Pluripotent Stem Cells*/metabolism , Mutation, Missense*, Humans ; Myopathy, Central Core/genetics ; Myopathy, Central Core/pathology ; Myopathy, Central Core/metabolism ; Adult ; Cell Line ; Male ; Cell Differentiation ; Female

المؤلفون: 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.

المصدر: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103410. Date of Electronic Publication: 2024 Mar 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Ryanodine Receptor Calcium Release Channel*/genetics , Ryanodine Receptor Calcium Release Channel*/metabolism , Malignant Hyperthermia*/genetics , Induced Pluripotent Stem Cells*/metabolism , Mutation, Missense*, Humans ; Myopathy, Central Core/genetics ; Myopathy, Central Core/pathology ; Male ; Female ; Cell Line ; Cell Differentiation

المؤلفون: 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.

المصدر: 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.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Myopathy, Central Core*/diagnosis , Myopathy, Central Core*/genetics , Malignant Hyperthermia*/diagnosis , Malignant Hyperthermia*/genetics, Female ; Humans ; Pregnancy ; Ryanodine Receptor Calcium Release Channel/genetics ; Muscle Hypotonia ; Chromosome Mapping ; Labor Presentation ; Mutation

المؤلفون: Hussien, Alaa, Youssef, Sherin, Ghatwary, Noha, Ahmed, Magdy A.

المصدر: 2024 International Conference on Machine Intelligence and Smart Innovation (ICMISI) Machine Intelligence and Smart Innovation (ICMISI), 2024 International Conference on. :25-31 May, 2024

Relation: 2024 International Conference on Machine Intelligence and Smart Innovation (ICMISI)

المؤلفون: Iyer KA; Department of Physiology and Biophysics, School of Medicine, Virginia Commonwealth University, Richmond, VA 23298., Hu Y; Department of Physiology and Biophysics, School of Medicine, Virginia Commonwealth University, Richmond, VA 23298., Klose T; Purdue Cryo-EM Facility, College of Science, Purdue University, West Lafayette, IN 47907., Murayama T; Department of Cellular and Molecular Pharmacology, Juntendo University Graduate School of Medicine, Tokyo 113-8421, Japan., Samsó M; Department of Physiology and Biophysics, School of Medicine, Virginia Commonwealth University, Richmond, VA 23298.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Jul 26; Vol. 119 (30), pp. e2122140119. Date of Electronic Publication: 2022 Jul 22.

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

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: Malignant Hyperthermia*/genetics , Muscle, Skeletal*/metabolism , Myopathy, Central Core*/genetics , Ryanodine Receptor Calcium Release Channel*/chemistry , Ryanodine Receptor Calcium Release Channel*/genetics, Animals ; Calcium/metabolism ; Cryoelectron Microscopy ; HEK293 Cells ; Humans ; Mutation ; Rabbits