Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

English (EN)·Polski (PL)·Ukraiński (UK)
Przejdź do strony domowej biblioteki Uniwersytet Ekonomiczny we Wrocławiu Link otwiera się w nowym oknie Logo biblioteki Prolib Integro - strona głównaUniwersytet Ekonomiczny we Wrocławiu

Wyszukujesz frazę ""Ophthalmoplegia, Chronic Progressive External"" wg kryterium: Temat

  Lista filtrów
Wyrównaj
Wyświetlanie 1-10 z 77
Tytuł:
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions.
Autorzy:
Zhao Y; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Hou Y; Department of Geriatrics, Peking University First Hospital, Beijing, China.
Zhao X; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.; Department of Neurology, Beijing Jishuitan Hospital, Beijing, China.
Liufu T; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Yu M; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Zhang W; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Xie Z; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Zhang VW; AmCare Genomics Lab, Guangzhou, China.
Yuan Y; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Wang Z; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2328. Date of Electronic Publication: 2023 Nov 28.
Typ publikacji:
Journal Article
MeSH Terms:
Ophthalmoplegia*/genetics
Kearns-Sayre Syndrome*/genetics
Kearns-Sayre Syndrome*/pathology
Ophthalmoplegia, Chronic Progressive External*/genetics
Ophthalmoplegia, Chronic Progressive External*/diagnosis
Ophthalmoplegia, Chronic Progressive External*/pathology
Humans ; Retrospective Studies ; Gene Deletion ; DNA, Mitochondrial/genetics ; China
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical Spectrum of Biopsy Proven Mitochondrial Myopathy.
Autorzy:
Menon D; Department of Neurology, SCTIMST, Trivandrum, Kerala, India.
Nair SS; Department of Neurology, SCTIMST, Trivandrum, Kerala, India.
Radhakrishnan N; Department of Pathology, SCTIMST, Trivandrum, Kerala, India.
Saraf UU; Department of Neurology, SCTIMST, Trivandrum, Kerala, India.
Nair M; Department of Neurology, SCTIMST, Trivandrum, Kerala, India.
Pokaż więcej
Źródło:
Neurology India [Neurol India] 2023 Nov-Dec; Vol. 71 (6), pp. 1192-1196.
Typ publikacji:
Journal Article
MeSH Terms:
Mitochondrial Myopathies*/diagnosis
Kearns-Sayre Syndrome*
Ophthalmoplegia, Chronic Progressive External*
Humans ; Electromyography ; Biopsy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Progressive external ophthalmoplegia - A case report.
Autorzy:
Kaur A; Department of Pathology, SMS Medical College, Jaipur, Rajasthan, India.
Mathur K; Department of Pathology, SMS Medical College, Jaipur, Rajasthan, India.
Harsh A; Department of Pathology, SMS Medical College, Jaipur, Rajasthan, India.
Thakar K; Department of Pathology, SMS Medical College, Jaipur, Rajasthan, India.
Pokaż więcej
Źródło:
Indian journal of pathology & microbiology [Indian J Pathol Microbiol] 2023 Oct-Dec; Vol. 66 (4), pp. 883-885.
Typ publikacji:
Case Reports
MeSH Terms:
Ophthalmoplegia, Chronic Progressive External*/diagnosis
Ophthalmoplegia, Chronic Progressive External*/genetics
Ophthalmoplegia, Chronic Progressive External*/pathology
Ophthalmoplegia*/diagnosis
Ophthalmoplegia*/etiology
Female ; Humans ; Adolescent ; Oculomotor Muscles/pathology
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pontine stroke in a patient with Chronic Progressive External Ophthalmoplegia (CPEO): a case report.
Autorzy:
Eliyan Y; Pritzker School of Medicine, University of Chicago, Chicago, IL, USA.
Rezania K; Department of Neurology, University of Chicago Medical Center, Chicago, IL, USA.
Gomez CM; Department of Neurology, University of Chicago Medical Center, Chicago, IL, USA.
Seibert K; Department of Neurology, University of Chicago Medical Center, Chicago, IL, USA. .
Pokaż więcej
Źródło:
BMC neurology [BMC Neurol] 2023 Jun 14; Vol. 23 (1), pp. 231. Date of Electronic Publication: 2023 Jun 14.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Ischemic Stroke*
Ophthalmoplegia, Chronic Progressive External*/complications
Ophthalmoplegia, Chronic Progressive External*/genetics
Stroke*/complications
Stroke*/diagnostic imaging
Bell Palsy*
Male ; Humans ; Aged ; Patients
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting.
Autorzy:
Haque S; Nepean Hospital, Derby Street, Kingswood, NSW, 2747, Australia. .; The Kolling Institute, Royal North Shore Hospital, Reserve Road, St Leonards, NSW, 2065, Australia. .
Crawley K; The Kolling Institute, Royal North Shore Hospital, Reserve Road, St Leonards, NSW, 2065, Australia.
Shrestha R; Centre for Economic Impacts of Genomic Medicine (GenIMPACT), Macquarie Business School, Macquarie University, Eastern Rd, Macquarie Park, NSW, 2109, Australia.
Schofield D; Centre for Economic Impacts of Genomic Medicine (GenIMPACT), Macquarie Business School, Macquarie University, Eastern Rd, Macquarie Park, NSW, 2109, Australia.
Sue CM; The Kolling Institute, Royal North Shore Hospital, Reserve Road, St Leonards, NSW, 2065, Australia.; Neuroscience Research Australia, University of New South Wales, Sydney, Australia.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 May 29; Vol. 18 (1), pp. 129. Date of Electronic Publication: 2023 May 29.
Typ publikacji:
Journal Article
MeSH Terms:
Outpatients*
Ophthalmoplegia, Chronic Progressive External*
Aged ; Humans ; United States ; Retrospective Studies ; Cross-Sectional Studies ; Medicare ; Health Care Costs ; Hospitals
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion.
Autorzy:
Grigalionienė K; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Burnytė B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Balkelienė D; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Ambrozaitytė L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Utkus A; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Jan; Vol. 11 (1), pp. e2059. Date of Electronic Publication: 2022 Oct 01.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Kearns-Sayre Syndrome*/genetics
Ophthalmoplegia, Chronic Progressive External*/genetics
Male ; Humans ; Young Adult ; Adult ; Gene Deletion ; DNA, Mitochondrial/genetics ; Multiplex Polymerase Chain Reaction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.
Autorzy:
Hou Y; Department of Neurology, Peking University First Hospital, Beijing, China.; Department of Geriatrics, Peking University First Hospital, Beijing, China.
Zhao X; Department of Neurology, Peking University First Hospital, Beijing, China.
Xie Z; Department of Neurology, Peking University First Hospital, Beijing, China.
Yu M; Department of Neurology, Peking University First Hospital, Beijing, China.
Lv H; Department of Neurology, Peking University First Hospital, Beijing, China.
Zhang W; Department of Neurology, Peking University First Hospital, Beijing, China.
Yuan Y; Department of Neurology, Peking University First Hospital, Beijing, China.
Wang Z; Department of Neurology, Peking University First Hospital, Beijing, China.; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 May; Vol. 10 (5), pp. e1921. Date of Electronic Publication: 2022 Mar 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Ophthalmoplegia, Chronic Progressive External*/genetics
China ; DNA, Mitochondrial/genetics ; Female ; Humans ; Male ; Mitochondria/genetics ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers.
Autorzy:
Elstner M; Department of Neurology, Technical University Munich, 81675 Munich, Germany.
Olszewski K; Center for Addictive Disorders, Department of Psychiatry, Psychotherapy and Psychosomatics, Psychiatric Hospital, University of Zurich, 8001 Zurich, Switzerland.
Prokisch H; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, 85764 Neuherberg, Germany.
Klopstock T; Department of Neurology, Friedrich-Baur-Institute, University of Munich, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81675 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81675 Munich, Germany.
Murgia M; Department of Proteomics a Signal Transduction, Max Planck Institute of Biochemistry, 82352 Martinsried, Germany.; Department of Biomedical Sciences, University of Padova, 35131 Padua, Italy.
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Oct 14; Vol. 22 (20). Date of Electronic Publication: 2021 Oct 14.
Typ publikacji:
Journal Article
MeSH Terms:
DNA, Mitochondrial/*genetics
Mitochondria, Muscle/*genetics
Muscle Fibers, Skeletal/*pathology
Ophthalmoplegia, Chronic Progressive External/*genetics
Electron Transport Complex IV/metabolism ; Female ; Gene Expression Profiling ; Gene Regulatory Networks ; Humans ; Laser Capture Microdissection ; Male ; Mitochondria, Muscle/pathology ; NADPH Dehydrogenase/genetics ; NADPH Dehydrogenase/metabolism ; Ophthalmoplegia, Chronic Progressive External/pathology ; Proteomics/methods ; Succinate Dehydrogenase/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO.
Autorzy:
Lin Y; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
Du J; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
Wang W; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
Ren H; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
Zhao D; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
Liu F; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
Lin P; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
Ji K; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China. .
Zhao Y; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.
Yan C; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China. .; Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Shandong University, Qingdao, 266035, Shandong, China. .; Brain Science Research Institute, Shandong University, Jinan, 250012, Shandong, China. .
Pokaż więcej
Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Oct; Vol. 42 (10), pp. 4271-4280. Date of Electronic Publication: 2021 Jun 29.
Typ publikacji:
Journal Article
MeSH Terms:
DNA-Directed DNA Polymerase*/genetics
Ophthalmoplegia, Chronic Progressive External*/genetics
DNA Polymerase gamma/genetics ; DNA, Mitochondrial/genetics ; Humans ; Mutation/genetics ; Mutation, Missense
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-10 z 77

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies