المؤلفون: Wu YT; Center for Mitochondrial Medicine and Free Radical Research, Changhua Christian Hospital, Changhua City 50046, Taiwan., Huang SC; Union Clinical Laboratory, Taipei 10665, Taiwan., Shiao YM; Union Clinical Laboratory, Taipei 10665, Taiwan., Syu WC; Union Clinical Laboratory, Taipei 10665, Taiwan., Wei YH; Center for Mitochondrial Medicine and Free Radical Research, Changhua Christian Hospital, Changhua City 50046, Taiwan., Hsu YC; Department of Audiology and Speech-Language Pathology, Mackay Medical College, New Taipei City 25245, Taiwan; Institute of Biomedical Sciences, Mackay Medical College, New Taipei City 25245, Taiwan.

المصدر: Hearing research [Hear Res] 2023 Oct; Vol. 438, pp. 108876. Date of Electronic Publication: 2023 Aug 22.

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

بيانات الدورية: Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Netherlands NLM ID: 7900445 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5891 (Electronic) Linking ISSN: 03785955 NLM ISO Abbreviation: Hear Res Subsets: MEDLINE

مواضيع طبية MeSH: MERRF Syndrome*/diagnosis , MERRF Syndrome*/genetics , Genome, Mitochondrial*, Humans ; Mitochondria ; DNA, Mitochondrial/genetics ; Mutation

المؤلفون: Wu YT; Center for Mitochondrial Medicine and Free Radical Research, Changhua Christian Hospital, Changhua City, Taiwan, 50046., Tay HY; Center for Mitochondrial Medicine and Free Radical Research, Changhua Christian Hospital, Changhua City, Taiwan, 50046., Yang JT; Center for Mitochondrial Medicine and Free Radical Research, Changhua Christian Hospital, Changhua City, Taiwan, 50046., Liao HH; Center for Mitochondrial Medicine and Free Radical Research, Changhua Christian Hospital, Changhua City, Taiwan, 50046., Ma YS; Center for Mitochondrial Medicine and Free Radical Research, Changhua Christian Hospital, Changhua City, Taiwan, 50046., Wei YH; Center for Mitochondrial Medicine and Free Radical Research, Changhua Christian Hospital, Changhua City, Taiwan, 50046. yhweibabi@gmail.com.; Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan, 112. yhweibabi@gmail.com.

المصدر: Journal of biomedical science [J Biomed Sci] 2023 Aug 21; Vol. 30 (1), pp. 70. Date of Electronic Publication: 2023 Aug 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 9421567 Publication Model: Electronic Cited Medium: Internet ISSN: 1423-0127 (Electronic) Linking ISSN: 10217770 NLM ISO Abbreviation: J Biomed Sci Subsets: MEDLINE

مواضيع طبية MeSH: MERRF Syndrome*/genetics , Neural Stem Cells*, Humans ; RNA, Transfer, Lys ; Neurons ; Mitochondria/genetics

المؤلفون: Tomoda E; Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan., Nagao A; Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan., Shirai Y; Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan., Asano K; Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan., Suzuki T; Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan., Battersby BJ; Institute of Biotechnology, University of Helsinki, Helsinki 00790, Finland., Suzuki T; Department of Chemistry and Biotechnology, Graduate School of Engineering, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan.

المصدر: Nucleic acids research [Nucleic Acids Res] 2023 Aug 11; Vol. 51 (14), pp. 7563-7579.

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

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: MELAS Syndrome*/genetics , MELAS Syndrome*/metabolism , MELAS Syndrome*/therapy , MERRF Syndrome*/genetics , MERRF Syndrome*/metabolism , MERRF Syndrome*/therapy , RNA, Transfer*/genetics , RNA, Transfer*/metabolism, Humans ; DNA, Mitochondrial/genetics ; DNA, Mitochondrial/metabolism ; Mitochondria/genetics ; Mitochondria/metabolism ; Mutation

المؤلفون: Capristo M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy., Del Dotto V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy., Tropeano CV; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy., Fiorini C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy., Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy., Valentino ML; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy.; Department of Biomedical and NeuroMotor Sciences, University of Bologna, via Altura 3, 40139, Bologna, Italy., Montopoli M; Department of Pharmaceutical and Pharmacological Sciences, University of Padova, via Largo Meneghetti 2, 3513, Padova, Italy., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy. valerio.carelli@unibo.it.; Department of Biomedical and NeuroMotor Sciences, University of Bologna, via Altura 3, 40139, Bologna, Italy. valerio.carelli@unibo.it., Maresca A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, via Altura 3, 40139, Bologna, Italy. alessandra.maresca@isnb.it.

المصدر: Molecular medicine (Cambridge, Mass.) [Mol Med] 2022 Aug 03; Vol. 28 (1), pp. 90. Date of Electronic Publication: 2022 Aug 03.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 9501023 Publication Model: Electronic Cited Medium: Internet ISSN: 1528-3658 (Electronic) Linking ISSN: 10761551 NLM ISO Abbreviation: Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: MERRF Syndrome*/genetics , MERRF Syndrome*/metabolism, DNA, Mitochondrial/genetics ; DNA, Mitochondrial/metabolism ; Humans ; Mitochondria/genetics ; Mitochondria/metabolism ; Mitochondrial Proteins/genetics ; Mitochondrial Proteins/metabolism ; Mutation ; RNA, Transfer, Lys/genetics ; RNA, Transfer, Lys/metabolism ; Sirolimus/metabolism ; Sirolimus/pharmacology

المؤلفون: Štufková H; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, and General University Hospital in Prague, 128 08 Prague, Czech Republic., Kolářová H; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, and General University Hospital in Prague, 128 08 Prague, Czech Republic., Lokvencová K; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, and General University Hospital in Prague, 128 08 Prague, Czech Republic., Honzík T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, and General University Hospital in Prague, 128 08 Prague, Czech Republic., Zeman J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, and General University Hospital in Prague, 128 08 Prague, Czech Republic., Hansíková H; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, and General University Hospital in Prague, 128 08 Prague, Czech Republic., Tesařová M; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, and General University Hospital in Prague, 128 08 Prague, Czech Republic.

المصدر: Genes [Genes (Basel)] 2022 Jul 14; Vol. 13 (7). Date of Electronic Publication: 2022 Jul 14.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: MERRF Syndrome*/genetics , MERRF Syndrome*/pathology , Mitochondrial Encephalomyopathies*/pathology, Adult ; DNA, Mitochondrial/genetics ; Electron Transport Complex IV ; Humans ; Mitochondria, Muscle/metabolism

المؤلفون: Kawazoe T; Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan., Tobisawa S; Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan., Sugaya K; Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan., Uruha A; Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan.; Department of Neuropathology, Charité - Universitätsmedizin Berlin, Germany., Miyamoto K; Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan., Komori T; Department of Laboratory Medicine and Pathology (Neuropathology), TMNH, Japan., Goto YI; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Japan.; Medical Genome Center, NCNP, Japan., Nishino I; Medical Genome Center, NCNP, Japan.; Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Japan., Yoshihashi H; Department of Clinical Genetics, Tokyo Metropolitan Children's Medical Center, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan., Egawa N; Department of Neurology, Kyoto University Graduate School of Medicine, Japan., Kawata A; Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan., Isozaki E; Department of Neurology, Tokyo Metropolitan Neurological Hospital (TMNH), Japan.

المصدر: Internal medicine (Tokyo, Japan) [Intern Med] 2022 Feb 15; Vol. 61 (4), pp. 547-552. Date of Electronic Publication: 2021 Aug 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Japanese Society of Internal Medicine Country of Publication: Japan NLM ID: 9204241 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1349-7235 (Electronic) Linking ISSN: 09182918 NLM ISO Abbreviation: Intern Med Subsets: MEDLINE

مواضيع طبية MeSH: MERRF Syndrome*/diagnosis , MERRF Syndrome*/genetics , Optic Atrophy*, Aged ; DNA, Mitochondrial/genetics ; Female ; Humans ; Intranuclear Inclusion Bodies ; Mitochondria ; Mutation

المؤلفون: Finsterer J; Klinik Landstrasse, Messerli Institute, Vienna, Austria, fifigs1@yahoo.de.

المصدر: A&A practice [A A Pract] 2021 Sep 15; Vol. 15 (9), pp. e01525. Date of Electronic Publication: 2021 Sep 15.

نوع المنشور: Letter; Comment

بيانات الدورية: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 101714112 Publication Model: Electronic Cited Medium: Internet ISSN: 2575-3126 (Electronic) Linking ISSN: 25753126 NLM ISO Abbreviation: A A Pract Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsies, Myoclonic* , MERRF Syndrome*, Documentation ; Humans ; Mutation

المؤلفون: Valent A; Department of Anesthesiology and Critical Care, Saint-Louis Hospital, Département Médico-Universitaire Parabol, Assistance Publique - Hôpitaux de, Paris Nord & University of Paris, Paris, France, arnaud.valent@gmail.com , INSERM U-942 Biomarkers in, Cardioneurovascular Diseases, Inserm, France., Pharaboz A; Department of Anesthesiology and Critical Care, Saint-Louis Hospital, Département Médico-Universitaire Parabol, Assistance Publique - Hôpitaux de, Paris Nord & University of Paris, Paris, France., Letord A; Department of Anesthesiology and Critical Care, Saint-Louis Hospital, Département Médico-Universitaire Parabol, Assistance Publique - Hôpitaux de, Paris Nord & University of Paris, Paris, France., Boughezala S; Department of Anesthesiology and Critical Care, Saint-Louis Hospital, Département Médico-Universitaire Parabol, Assistance Publique - Hôpitaux de, Paris Nord & University of Paris, Paris, France., Boccara D; Department of Plastic, Reconstructive, and Aesthetic Surgery, Burn Center, Saint-Louis Hospital, Assistance Publique - Hôpitaux de Paris, Nord & University of Paris, Paris, France., Plaud B; Department of Anesthesiology and Critical Care, Saint-Louis Hospital, Département Médico-Universitaire Parabol, Assistance Publique - Hôpitaux de Paris, Nord & University of Paris Paris, France, INSERM U-942 Biomarkers in Cardioneurovascular Diseases, Inserm, France.

المصدر: A&A practice [A A Pract] 2021 Sep 15; Vol. 15 (9), pp. e01526. Date of Electronic Publication: 2021 Sep 15.

نوع المنشور: Letter; Comment

بيانات الدورية: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 101714112 Publication Model: Electronic Cited Medium: Internet ISSN: 2575-3126 (Electronic) Linking ISSN: 25753126 NLM ISO Abbreviation: A A Pract Subsets: MEDLINE

مواضيع طبية MeSH: MERRF Syndrome*, Documentation ; Humans ; Mutation

المؤلفون: Jeeva-Patel T; Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada., Freund P; Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada., Margolin EA; Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada edmargolin@gmail.com.; Departent of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario, Canada.

المصدر: BMJ case reports [BMJ Case Rep] 2021 Mar 25; Vol. 14 (3). Date of Electronic Publication: 2021 Mar 25.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Lipomatosis*/complications , Lipomatosis*/diagnosis , Lipomatosis, Multiple Symmetrical* , MERRF Syndrome*/complications , MERRF Syndrome*/diagnosis , MERRF Syndrome*/genetics , Optic Nerve Diseases*/diagnosis , Optic Nerve Diseases*/etiology, DNA, Mitochondrial ; Humans ; Mutation

المؤلفون: Muthusamy K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN., Fasolino JP; Department of Internal Medicine, Mayo Clinic, Scottsdale, AZ., Driver-Dunckley ED; Department of Neurology, Mayo Clinic, Scottsdale, AZ., Dhamija R; Department of Neurology, Mayo Clinic, Scottsdale, AZ.; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ.

المصدر: Annals of neurology [Ann Neurol] 2021 Mar; Vol. 89 (3), pp. 623-624. Date of Electronic Publication: 2021 Jan 04.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Ataxia/*physiopathology , Lipomatosis/*diagnostic imaging , MERRF Syndrome/*physiopathology , Myoclonus/*physiopathology, Aged ; DNA, Mitochondrial/genetics ; Genetic Testing ; Humans ; MERRF Syndrome/diagnosis ; MERRF Syndrome/genetics ; Magnetic Resonance Imaging ; Male ; Neck