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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.
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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.
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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.
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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. .
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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.
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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.
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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.
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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.
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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. .
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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
Tytuł:
Clinicogenetical Variants of Progressive External Ophthalmoplegia - An Especial Review of Non-ophthalmic Manifestations.
Autorzy:
Maghbooli M; Department of Neurology, Zanjan University of Medical Sciences, Vali-e-Asr Hospital, Zanjan, Iran.
Ghaffarpour M; Department of Neurology, Tehran University of Medical Sciences, Iranian Center of Neurological Research, Tehran, Iran.
Ghazizadeh T; Department of Neurology, Zanjan University of Medical Sciences, Vali-e-Asr Hospital, Zanjan, Iran.
Shalbaf NA; Department of Neurology, Zanjan University of Medical Sciences, Vali-e-Asr Hospital, Zanjan, Iran.
MalekMahmoudi G; Department of Neurology, Zanjan University of Medical Sciences, Vali-e-Asr Hospital, Zanjan, Iran.
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Źródło:
Neurology India [Neurol India] 2020 Jul-Aug; Vol. 68 (4), pp. 760-768.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Ophthalmoplegia*/genetics
Ophthalmoplegia, Chronic Progressive External*/genetics
DNA, Mitochondrial ; Diplopia ; Humans ; Oculomotor Muscles
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene.
Autorzy:
Chumarina M; Cell Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, Lund University, 22184, Lund, Sweden.; MultiPark and the Lund Stem Cell Center, Lund University, 22184, Lund, Sweden.
Russ K; Cell Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, Lund University, 22184, Lund, Sweden.; MultiPark and the Lund Stem Cell Center, Lund University, 22184, Lund, Sweden.
Azevedo C; Cell Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, Lund University, 22184, Lund, Sweden.; MultiPark and the Lund Stem Cell Center, Lund University, 22184, Lund, Sweden.
Heuer A; Behavioural Neuroscience Laboratory, Department of Experimental Medical Science, Lund University, 22184, Lund, Sweden.
Pihl M; Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, 1870, Copenhagen, Denmark.
Collin A; Office for Medical Services/Division of Laboratory Medicine, Department of Clinical Genetics and Pathology, Lund, Sweden.
Frostner EÅ; Department of Clinical Sciences Lund, Mitochondrial Medicine, Lund University, 22184, Lund, Sweden.
Elmer E; Department of Clinical Sciences Lund, Mitochondrial Medicine, Lund University, 22184, Lund, Sweden.
Hyttel P; Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, 1870, Copenhagen, Denmark.
Cappelletti G; Department of Biosciences, Università degli Studi di Milano, via Celoria 26, I-20133, Milan, Italy.; Center of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, via Balzaretti, I-20133, Milan, Italy.
Zini M; Parkinson Institute, ASST Pini-CTO, via Bignami 1, 20126, Milan, Italy.
Goldwurm S; Parkinson Institute, ASST Pini-CTO, via Bignami 1, 20126, Milan, Italy.
Roybon L; Cell Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, Lund University, 22184, Lund, Sweden. .; MultiPark and the Lund Stem Cell Center, Lund University, 22184, Lund, Sweden. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2019 Dec 16; Vol. 7 (1), pp. 208. Date of Electronic Publication: 2019 Dec 16.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Polymerase gamma/*genetics
Genetic Variation/*genetics
Ophthalmoplegia, Chronic Progressive External/*genetics
Parkinsonian Disorders/*genetics
Pluripotent Stem Cells/*physiology
Spheroids, Cellular/*physiology
Adult ; Female ; Humans ; Mesencephalon/pathology ; Mesencephalon/physiology ; Ophthalmoplegia, Chronic Progressive External/complications ; Ophthalmoplegia, Chronic Progressive External/diagnosis ; Parkinsonian Disorders/complications ; Parkinsonian Disorders/diagnosis ; Pluripotent Stem Cells/pathology ; Proteomics/methods ; Spheroids, Cellular/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation.
Autorzy:
Nambiar PN; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Kumar S S; Department of Imaging Sciences and Intervention Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Menon R; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Nair SS; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Madhavilatha GK; Department of Genetic Counselling, MedGenome Labs Ltd, Bangalore, India.
Sundaram S; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2020 Feb; Vol. 41 (1), pp. 99-100. Date of Electronic Publication: 2020 Feb 20.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Mutation*
Ophthalmoplegia, Chronic Progressive External/*pathology
Receptors, Cell Surface/*genetics
Scoliosis/*pathology
Child ; Female ; Humans ; Infant ; Male ; Ophthalmoplegia, Chronic Progressive External/genetics ; Scoliosis/genetics ; Siblings
SCR Disease Name:
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
False positive acetylcholine receptor antibodies in a case of unilateral chronic progressive external ophthalmoplegia: case report and review of literature.
Autorzy:
Rajput R; a Birmingham Midland Eye Centre , Sandwell and West Birmingham Hospitals NHS Trust , Birmingham , UK.
Sachdev A; a Birmingham Midland Eye Centre , Sandwell and West Birmingham Hospitals NHS Trust , Birmingham , UK.
Din N; b Ophthalmology Department, Whipps Cross University Hospital , London , UK.
Damato EM; a Birmingham Midland Eye Centre , Sandwell and West Birmingham Hospitals NHS Trust , Birmingham , UK.
Murray A; a Birmingham Midland Eye Centre , Sandwell and West Birmingham Hospitals NHS Trust , Birmingham , UK.
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Źródło:
Orbit (Amsterdam, Netherlands) [Orbit] 2018 Oct; Vol. 37 (5), pp. 385-388. Date of Electronic Publication: 2018 Jan 15.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Autoantibodies/*blood
Ophthalmoplegia, Chronic Progressive External/*diagnosis
Receptors, Cholinergic/*immunology
Adult ; Blepharoptosis/diagnosis ; Delayed Diagnosis ; Diagnosis, Differential ; Enzyme-Linked Immunosorbent Assay ; Eye Movements ; False Positive Reactions ; Female ; Humans ; Magnetic Resonance Imaging ; Myasthenia Gravis/diagnosis ; Myasthenia Gravis/immunology ; Ophthalmoplegia, Chronic Progressive External/immunology ; Ophthalmoplegia, Chronic Progressive External/surgery ; Predictive Value of Tests ; Radioimmunoassay
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian families.
Autorzy:
Rousan LA; a Department of Diagnostic and Interventional Radiology and Nuclear Medicine , Jordan University of Science and Technology , Irbid , Jordan.
Qased ABL; a Department of Diagnostic and Interventional Radiology and Nuclear Medicine , Jordan University of Science and Technology , Irbid , Jordan.
Audat ZA; b Department of Orthopedic Surgery , Jordan University of Science and Technology , Irbid , Jordan.
Ababneh LT; c Department of Ophthalmology , Jordan University of Science and Technology , Irbid , Jordan.
Jaradat SA; d Princess Haya Biotechnology Centre , Jordan University of Science and Technology , Irbid , Jordan.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2019 Apr; Vol. 40 (2), pp. 150-156. Date of Electronic Publication: 2019 Apr 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Ophthalmoplegia, Chronic Progressive External/*genetics
Receptors, Cell Surface/*genetics
Scoliosis/*genetics
Adolescent ; Adult ; Brain/diagnostic imaging ; Child ; Child, Preschool ; Consanguinity ; Exons ; Female ; Humans ; Jordan ; Magnetic Resonance Imaging ; Male ; Ophthalmoplegia, Chronic Progressive External/diagnostic imaging ; Pedigree ; Scoliosis/diagnostic imaging ; Sequence Analysis, DNA ; Tomography, X-Ray Computed
SCR Disease Name:
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?
Autorzy:
Ungaro C; Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Mangone, CS, Italy. .
Mazzei R; Institute for Agricultural and Forest Systems in the Mediterranean, National Research Council, Rende, CS, Italy.
Sprovieri T; Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Mangone, CS, Italy.
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2019 Jan; Vol. 40 (1), pp. 207-208. Date of Electronic Publication: 2018 Sep 14.
Typ publikacji:
Letter; Comment
MeSH Terms:
Ophthalmoplegia, Chronic Progressive External*
Scoliosis*
Cabo Verde ; Humans ; Mutation ; Receptors, Cell Surface ; Receptors, Immunologic/genetics
SCR Disease Name:
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Intracranial hypotension mimicking chronic progressive external ophthalmoplegia.
Autorzy:
Vahdani K; a Department of Oculoplastics and Orbital Surgery, Bristol Eye Hospital , Bristol , UK.
McVeigh K; a Department of Oculoplastics and Orbital Surgery, Bristol Eye Hospital , Bristol , UK.
Harrison R; a Department of Oculoplastics and Orbital Surgery, Bristol Eye Hospital , Bristol , UK.
Williams M; b Radiology Department , Bristol Royal Infirmary , Bristol , UK.
Garrott H; a Department of Oculoplastics and Orbital Surgery, Bristol Eye Hospital , Bristol , UK.
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Źródło:
Orbit (Amsterdam, Netherlands) [Orbit] 2018 Oct; Vol. 37 (5), pp. 371-374. Date of Electronic Publication: 2018 Jan 04.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Magnetic Resonance Imaging*
Blepharoptosis/*diagnosis
Headache/*diagnosis
Intracranial Hypotension/*diagnostic imaging
Ophthalmoplegia, Chronic Progressive External/*diagnostic imaging
Vision Disorders/*diagnosis
Blepharoptosis/etiology ; Craniocerebral Trauma/complications ; Diagnosis, Differential ; Female ; Headache/etiology ; Humans ; Intracranial Hypotension/etiology ; Middle Aged ; Ophthalmoplegia, Chronic Progressive External/etiology ; Vision Disorders/etiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mitochondrial dysfunction and cerebral metabolic abnormalities in patients with mitochondrial encephalomyopathy subtypes: Evidence from proton MR spectroscopy and muscle biopsy.
Autorzy:
Niu FN; Department of Pathology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
Meng HL; Department of Neurology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
Chang LL; Department of Neurology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
Wu HY; Department of Pathology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
Li WP; Department of Radiology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
Liu RY; Department of Neurology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
Wang HT; Department of Radiology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
Zhang B; Department of Radiology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
Xu Y; Department of Neurology, Drum Tower Hospital, Medical School of Nanjing University, Nanjing, Jiangsu, China.
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Źródło:
CNS neuroscience & therapeutics [CNS Neurosci Ther] 2017 Aug; Vol. 23 (8), pp. 686-697. Date of Electronic Publication: 2017 Jul 11.
Typ publikacji:
Journal Article
MeSH Terms:
Brain/*metabolism
MELAS Syndrome/*metabolism
Mitochondria/*metabolism
Ophthalmoplegia, Chronic Progressive External/*metabolism
Adult ; Brain/diagnostic imaging ; Cohort Studies ; Female ; Humans ; MELAS Syndrome/diagnostic imaging ; MELAS Syndrome/pathology ; Male ; Mitochondria/pathology ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Ophthalmoplegia, Chronic Progressive External/diagnostic imaging ; Ophthalmoplegia, Chronic Progressive External/pathology ; Proton Magnetic Resonance Spectroscopy ; ROC Curve
Czasopismo naukowe
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Tytuł:
A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis.
Autorzy:
Bozdoğan ST; a Department of Medical Genetics , Mersin University , Mersin , Turkey.
Dinç E; b Department of Ophthalmology , Mersin University , Mersin , Turkey.
Sarı AA; b Department of Ophthalmology , Mersin University , Mersin , Turkey.
Özgür A; c Department of Radiology, Faculty of Medicine , Mersin University , Mersin , Turkey.
Bişgin A; d Department of Medical Genetics, Faculty of Medicine , Cukurova University , Adana , Turkey.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2017 May-Jun; Vol. 38 (3), pp. 284-285. Date of Electronic Publication: 2016 Jun 07.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Mutation*
Codon, Terminator/*genetics
Ophthalmoplegia, Chronic Progressive External/*genetics
Receptors, Immunologic/*genetics
Scoliosis/*genetics
Brain/diagnostic imaging ; Consanguinity ; Female ; Humans ; Magnetic Resonance Imaging ; Ophthalmoplegia, Chronic Progressive External/diagnostic imaging ; Ophthalmoplegia, Chronic Progressive External/surgery ; Receptors, Cell Surface ; Rib Cage/diagnostic imaging ; Scoliosis/diagnostic imaging ; Scoliosis/surgery ; Young Adult
SCR Disease Name:
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Raport
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Tytuł:
Acetyl-CoA-driven respiration in frozen muscle contributes to the diagnosis of mitochondrial disease.
Autorzy:
Zuccolotto-Dos-Reis FH; Department of Neurosciences, Division of Neurology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
Escarso SHA; Department of Neurosciences, Division of Neurology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
Araujo JS; Department of Cell and Molecular Biology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
Espreafico EM; Department of Cell and Molecular Biology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
Alberici LC; Department of BioMolecular Sciences, School of Pharmaceutical Sciences of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
Sobreira CFDR; Department of Neurosciences, Division of Neurology, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
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Źródło:
European journal of clinical investigation [Eur J Clin Invest] 2021 Sep; Vol. 51 (9), pp. e13574. Date of Electronic Publication: 2021 May 02.
Typ publikacji:
Journal Article
MeSH Terms:
Oxygen Consumption*
Acetyl Coenzyme A/*metabolism
Mitochondria, Muscle/*metabolism
Mitochondrial Diseases/*diagnosis
Muscle, Skeletal/*metabolism
Adolescent ; Adult ; Biopsy ; Cell Respiration ; Child ; Clinical Laboratory Techniques/methods ; Cryopreservation ; Electron Transport ; Female ; Humans ; MELAS Syndrome/diagnosis ; MELAS Syndrome/metabolism ; Male ; Membrane Potential, Mitochondrial ; Mitochondrial Diseases/metabolism ; Mitochondrial Membranes/metabolism ; Muscle, Skeletal/pathology ; Ophthalmoplegia, Chronic Progressive External/diagnosis ; Ophthalmoplegia, Chronic Progressive External/metabolism ; Oxidative Phosphorylation ; Permeability ; Specimen Handling ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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