المؤلفون: Dallabona C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, 43124 Parma, Italy., Baruffini E; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, 43124 Parma, Italy., Goffrini P; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, 43124 Parma, Italy., Lodi T; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, 43124 Parma, Italy. Electronic address: tiziana.lodi@unipr.it.

المصدر: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2017 Nov 18; Vol. 493 (2), pp. 909-913. Date of Electronic Publication: 2017 Sep 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2104 (Electronic) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

مواضيع طبية MeSH: Point Mutation*, Adenine Nucleotide Translocator 1/*genetics , DNA, Mitochondrial/*genetics , Mitochondrial ADP, ATP Translocases/*genetics , Mitochondrial Myopathies/*genetics , Saccharomyces cerevisiae/*genetics , Saccharomyces cerevisiae Proteins/*genetics, Alleles ; Humans

المؤلفون: da Costa CK; Department of Neurology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Kiyomoto BH, Schmidt B, Oliveira AS, Gabbai AA, Tengan CH

المصدر: Journal of the neurological sciences [J Neurol Sci] 2007 Dec 15; Vol. 263 (1-2), pp. 139-44. Date of Electronic Publication: 2007 Aug 14.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0022-510X (Print) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Aging/*physiology , DNA, Mitochondrial/*genetics , Mitochondrial Myopathies/*genetics , Point Mutation/*genetics, Adolescent ; Adult ; Aged ; Case-Control Studies ; Child ; DNA Mutational Analysis/methods ; Female ; Humans ; Male ; Middle Aged ; Mitochondrial Myopathies/physiopathology ; Statistics, Nonparametric

المؤلفون: Mancuso M; Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA., Ferraris S, Nishigaki Y, Azan G, Mauro A, Sammarco P, Krishna S, Tay SK, Bonilla E, Romansky SG, Hirano M, DiMauro S

المصدر: Journal of the neurological sciences [J Neurol Sci] 2005 Jan 15; Vol. 228 (1), pp. 93-7.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print Cited Medium: Print ISSN: 0022-510X (Print) Linking ISSN: 0022510X NLM ISO Abbreviation: J Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Point Mutation*, DNA, Mitochondrial/*genetics , Mitochondrial Myopathies/*genetics, Cysteine/genetics ; Cytochrome-c Oxidase Deficiency ; DNA Mutational Analysis/methods ; Diabetes Complications/complications ; Diabetes Complications/genetics ; Electron Transport Complex I/metabolism ; Electron Transport Complex II/metabolism ; Electron Transport Complex III/metabolism ; Female ; Humans ; Infant ; Male ; Middle Aged ; Mitochondrial Myopathies/complications ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; RNA, Transfer/genetics ; Threonine/genetics

المؤلفون: Hayashi N; The W. Richard Green Eye Pathology Laboratory, Wilmer Ophthalmological Institute and Department of Pathology, Baltimore, Maryland 21287-9248, USA., Geraghty MT, Green WR

المصدر: Ophthalmology [Ophthalmology] 2000 Jul; Vol. 107 (7), pp. 1397-402.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7802443 Publication Model: Print Cited Medium: Print ISSN: 0161-6420 (Print) Linking ISSN: 01616420 NLM ISO Abbreviation: Ophthalmology Subsets: MEDLINE

مواضيع طبية MeSH: Point Mutation*, Eye Diseases/*pathology , Leigh Disease/*pathology , Mitochondrial Myopathies/*pathology, Ciliary Body/ultrastructure ; DNA Mutational Analysis ; DNA, Mitochondrial/genetics ; Endothelium, Corneal/ultrastructure ; Epithelium/ultrastructure ; Eye Diseases/genetics ; Fatal Outcome ; Female ; Guanine ; Humans ; Infant ; Leigh Disease/genetics ; Mitochondrial Myopathies/genetics ; Nerve Fibers/ultrastructure ; Optic Atrophy/genetics ; Optic Atrophy/pathology ; Optic Disk/ultrastructure ; Pigment Epithelium of Eye/ultrastructure ; Retinal Diseases/pathology ; Retinal Ganglion Cells/ultrastructure ; Thymidine

المؤلفون: Kleinle S; Department of Pediatrics, University of Berne, Switzerland., Schneider V, Moosmann P, Brandner S, Krähenbühl S, Liechti-Gallati S

المصدر: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 1998 Jun 09; Vol. 247 (1), pp. 112-5.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print Cited Medium: Print ISSN: 0006-291X (Print) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

مواضيع طبية MeSH: Point Mutation*, Anticodon/*antagonists & inhibitors , DNA, Mitochondrial/*genetics , Mitochondrial Myopathies/*genetics , RNA, Transfer, Phe/*genetics, Adult ; Animals ; Anticodon/metabolism ; Base Sequence ; Cattle ; Electron Transport/genetics ; Humans ; Male ; Mice ; Mitochondrial Myopathies/enzymology ; Mitochondrial Myopathies/pathology ; Molecular Sequence Data ; Muscle, Skeletal/enzymology ; RNA, Transfer, Phe/metabolism ; Rats

المؤلفون: Ozawa T; Department of Biomedical Chemistry, Faculty of Medicine, University of Nagoya, Japan., Katsumata K, Hayakawa M, Tanaka M, Sugiyama S, Tanaka T, Itoyama S, Nunoda S, Sekiguchi M

المصدر: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 1995 Feb 15; Vol. 207 (2), pp. 613-20.

نوع المنشور: Case Reports; Comparative Study; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print Cited Medium: Print ISSN: 0006-291X (Print) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

مواضيع طبية MeSH: Heart Transplantation* , Point Mutation*, Cardiomyopathies/*genetics , Cardiomyopathies/*surgery , Cytochrome b Group/*genetics , Mitochondrial Myopathies/*genetics , NAD(P)H Dehydrogenase (Quinone)/*genetics , RNA, Ribosomal/*genetics, Adult ; Amino Acid Sequence ; Animals ; Base Sequence ; Cardiomyopathies/pathology ; Cattle ; Child ; Conserved Sequence ; DNA, Mitochondrial/analysis ; DNA, Mitochondrial/genetics ; Female ; Genotype ; Humans ; Male ; Mice ; Mitochondrial Myopathies/pathology ; Mitochondrial Myopathies/surgery ; Myocardium/pathology ; Phenotype ; Rats ; Seals, Earless ; Sequence Homology, Amino Acid ; Sequence Homology, Nucleic Acid ; Whales

المؤلفون: Inamori M; Second Department of Internal Medicine, Yokohama City University School of Medicine., Ishigami T, Takahashi N, Hibi K, Ashino K, Sumita S, Tamura K, Ochiai H, Umemura S, Ishii M, Tanaka S, Sekihara H, Inayama Y

المصدر: Journal of cardiology [J Cardiol] 1997 Dec; Vol. 30 (6), pp. 341-7.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8804703 Publication Model: Print Cited Medium: Print ISSN: 0914-5087 (Print) Linking ISSN: 09145087 NLM ISO Abbreviation: J Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Point Mutation*, DNA, Mitochondrial/*genetics , Diabetes Mellitus, Type 2/*complications , Heart Failure/*complications , Mitochondrial Myopathies/*genetics , RNA/*genetics , RNA, Transfer, Leu/*genetics , Sick Sinus Syndrome/*complications, Adult ; Female ; Humans ; Mitochondrial Myopathies/diagnosis ; Polymerase Chain Reaction ; RNA, Mitochondrial

المؤلفون: Ohmoto N; Second Department of Internal Medicine, Akita University School of Medicine, Akita., Fujiwara Y, Kibira S, Kobayashi M, Saito T, Miura M

المصدر: Journal of cardiology [J Cardiol] 2003 Jan; Vol. 41 (1), pp. 21-7.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8804703 Publication Model: Print Cited Medium: Print ISSN: 0914-5087 (Print) Linking ISSN: 09145087 NLM ISO Abbreviation: J Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Point Mutation*, Cardiomyopathies/*genetics , DNA, Mitochondrial/*genetics , Hypertrophy, Left Ventricular/*genetics, Acidosis, Lactic/complications ; Adult ; Cardiomyopathies/pathology ; Diabetes Mellitus, Type 1/complications ; Echocardiography ; Hearing Loss, Sensorineural/complications ; Humans ; Hypertrophy, Left Ventricular/diagnostic imaging ; Hypertrophy, Left Ventricular/pathology ; Male ; Mitochondrial Myopathies/complications ; Mitochondrial Myopathies/pathology ; Wolff-Parkinson-White Syndrome/complications

المؤلفون: Cardaioli E; Department of Neurological and Behavioural Sciences, University of Siena, Italy., Da Pozzo P, Radi E, Dotti MT, Federico A

المصدر: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2005 Feb 18; Vol. 327 (3), pp. 675-8.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print Cited Medium: Print ISSN: 0006-291X (Print) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

مواضيع طبية MeSH: Point Mutation*, DNA, Mitochondrial/*genetics , Mitochondrial Myopathies/*genetics , Ophthalmoplegia, Chronic Progressive External/*genetics , RNA, Transfer, Leu/*genetics , Uridine/*analogs & derivatives, Animals ; Base Sequence ; Fibroblasts/metabolism ; Humans ; Lymphocytes/metabolism ; Muscle Fibers, Skeletal/metabolism ; Polymorphism, Restriction Fragment Length ; Uridine/chemistry

المؤلفون: Taylor RW; Department of Neurology, Medical School, University of Newcastle upon Tyne, United Kingdom., Chinnery PF, Bates MJ, Jackson MJ, Johnson MA, Andrews RM, Turnbull DM

المصدر: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 1998 Feb 04; Vol. 243 (1), pp. 47-51.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print Cited Medium: Print ISSN: 0006-291X (Print) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

مواضيع طبية MeSH: Point Mutation*, DNA, Mitochondrial/*genetics , Multiple Sclerosis/*complications , Multiple Sclerosis/*genetics , Ophthalmoplegia, Chronic Progressive External/*complications , Ophthalmoplegia, Chronic Progressive External/*genetics , RNA, Transfer, Ile/*genetics, Animals ; Base Sequence ; DNA, Mitochondrial/chemistry ; Electron Transport Complex IV/metabolism ; Female ; Humans ; Middle Aged ; Mitochondrial Myopathies/complications ; Mitochondrial Myopathies/genetics ; Mitochondrial Myopathies/metabolism ; Molecular Sequence Data ; Multiple Sclerosis/metabolism ; Muscle Fibers, Skeletal/metabolism ; Muscle, Skeletal/metabolism ; Nucleic Acid Conformation ; Ophthalmoplegia, Chronic Progressive External/metabolism ; Sequence Homology, Nucleic Acid ; Species Specificity