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


Starter badań:

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
Tytuł :
Surgical management of ptosis in chronic progressive external ophthalmoplegia.
Autorzy :
Eshaghi M; Ophthalmology, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Arabi A; Ophthalmic Research Center, Torfe Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Eshaghi S; Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
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Źródło :
European journal of ophthalmology [Eur J Ophthalmol] 2021 Jul; Vol. 31 (4), pp. 2064-2068. Date of Electronic Publication: 2020 Aug 27.
Typ publikacji :
Journal Article
MeSH Terms :
Blepharoptosis*/surgery
Ophthalmoplegia, Chronic Progressive External*
Eyelids ; Humans ; Oculomotor Muscles/surgery ; Prospective Studies ; Retrospective Studies ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Severe Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses: Response.
Autorzy :
Cherny C; State University of New York College of Optometry, New York, New York.
Sherman SW; Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York.
Dagi Glass LR; Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York.
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Źródło :
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2021 Mar 01; Vol. 41 (1), pp. 137-138.
Typ publikacji :
Letter; Comment
MeSH Terms :
Blepharoptosis*/etiology
Ophthalmoplegia, Chronic Progressive External*/complications
Ophthalmoplegia, Chronic Progressive External*/diagnosis
Humans ; Sclera
Opinia redakcyjna
Tytuł :
Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family.
Autorzy :
Xiu Y; Eye institute & Xiamen eye Center, Affiliated Xiamen University, 336 Xiahe Road, Xiamen, 361000, China.
Lv Z; Department of Neurology, The First Affiliated Hospital of Xiamen University, Xiamen, Fujian, China.
Wang D; Department of Neurology, The First Affiliated Hospital of Xiamen University, Xiamen, Fujian, China.
Chen X; Department of Neurology, Zhangzhou Affiliated Hospital of Fujian Medical University, Zhangzhou, Fujian, China.
Huang S; Eye institute & Xiamen eye Center, Affiliated Xiamen University, 336 Xiahe Road, Xiamen, 361000, China.
Pan M; Eye institute & Xiamen eye Center, Affiliated Xiamen University, 336 Xiahe Road, Xiamen, 361000, China. .
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Źródło :
Journal of molecular neuroscience : MN [J Mol Neurosci] 2021 Feb; Vol. 71 (2), pp. 293-301. Date of Electronic Publication: 2020 Jul 24.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Codon, Nonsense*
Asian Continental Ancestry Group/*genetics
Ophthalmoplegia, Chronic Progressive External/*genetics
Receptors, Cell Surface/*genetics
Scoliosis/*genetics
Adult ; Child ; Diffusion Tensor Imaging ; Evoked Potentials, Somatosensory ; Female ; Humans ; Magnetic Resonance Imaging/methods ; Male ; Medulla Oblongata/diagnostic imaging ; Medulla Oblongata/pathology ; Neuroimaging ; Ophthalmoplegia, Chronic Progressive External/diagnostic imaging ; Ophthalmoplegia, Chronic Progressive External/ethnology ; Ophthalmoplegia, Chronic Progressive External/physiopathology ; Pons/diagnostic imaging ; Pons/pathology ; Pyramidal Tracts/abnormalities ; Pyramidal Tracts/diagnostic imaging ; Receptors, Cell Surface/physiology ; Scoliosis/diagnostic imaging ; Scoliosis/ethnology ; Scoliosis/physiopathology
SCR Disease Name :
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Czasopismo naukowe
Tytuł :
A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development.
Autorzy :
Zaka A; Genomics Research Lab, Department of Biological Sciences, International Islamic University, Islamabad, Pakistan.
Shahzad S; Genomics Research Lab, Department of Biological Sciences, International Islamic University, Islamabad, Pakistan.
Rao HZ; Department of Oral & Maxillofacial Surgery, Bahria University Medical and Dental College, Karachi, Pakistan.
Hashim Y; Genomics Research Lab, Department of Biological Sciences, International Islamic University, Islamabad, Pakistan.
Basit S; Center for Genetics and Inherited Diseases, Taibah University, Medina, Saudi Arabia.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Feb; Vol. 185 (2), pp. 355-361. Date of Electronic Publication: 2020 Nov 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
DCC Receptor/*genetics
Intellectual Disability/*genetics
Ophthalmoplegia, Chronic Progressive External/*genetics
Scoliosis/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Consanguinity ; Female ; Frameshift Mutation/genetics ; Genes, Recessive/genetics ; Homozygote ; Humans ; Intellectual Disability/complications ; Intellectual Disability/pathology ; Male ; Ophthalmoplegia, Chronic Progressive External/complications ; Ophthalmoplegia, Chronic Progressive External/pathology ; Pakistan/epidemiology ; Pedigree ; Scoliosis/complications ; Scoliosis/pathology ; Young Adult
SCR Disease Name :
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Czasopismo naukowe
Tytuł :
Scleral Lenses Versus Surgery for Ptosis in Progressive External Ophthalmoplegia Plus Respectively Kearns-Sayre Syndrome.
Autorzy :
Finsterer J; Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.
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Źródło :
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2021 Mar 01; Vol. 41 (1), pp. 136-137.
Typ publikacji :
Letter; Comment
MeSH Terms :
Blepharoptosis*/etiology
Blepharoptosis*/surgery
Kearns-Sayre Syndrome*/complications
Ophthalmoplegia, Chronic Progressive External*
Humans ; Sclera/surgery
Opinia redakcyjna
Tytuł :
Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.
Autorzy :
Kierdaszuk B; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
Kaliszewska M; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.
Rusecka J; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.
Kosińska J; Department of Medical Genetics, Medical University of Warsaw, Pawinskiego 3c, 02-106 Warsaw, Poland.
Bartnik E; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.
Tońska K; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5a, 02-106 Warsaw, Poland.
Kamińska AM; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
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Źródło :
Genes [Genes (Basel)] 2020 Dec 31; Vol. 12 (1). Date of Electronic Publication: 2020 Dec 31.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Helicases/*genetics
DNA Polymerase gamma/*genetics
Kearns-Sayre Syndrome/*genetics
Mitochondrial Diseases/*genetics
Mitochondrial Encephalomyopathies/*genetics
Mitochondrial Proteins/*genetics
Ophthalmoplegia, Chronic Progressive External/*genetics
Ribonuclease H/*genetics
Adolescent ; Adult ; Aged ; Cerebellum/diagnostic imaging ; Cerebellum/metabolism ; Cerebellum/pathology ; Cerebrum/diagnostic imaging ; Cerebrum/metabolism ; Cerebrum/pathology ; Child ; DNA Helicases/metabolism ; DNA Polymerase gamma/metabolism ; DNA, Mitochondrial/genetics ; DNA, Mitochondrial/metabolism ; Diagnosis, Differential ; Female ; Gene Expression ; Humans ; Kearns-Sayre Syndrome/diagnostic imaging ; Kearns-Sayre Syndrome/metabolism ; Kearns-Sayre Syndrome/pathology ; Male ; Middle Aged ; Mitochondria/metabolism ; Mitochondria/pathology ; Mitochondrial Diseases/diagnostic imaging ; Mitochondrial Diseases/metabolism ; Mitochondrial Diseases/pathology ; Mitochondrial Encephalomyopathies/diagnostic imaging ; Mitochondrial Encephalomyopathies/metabolism ; Mitochondrial Encephalomyopathies/pathology ; Mitochondrial Proteins/metabolism ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Ophthalmoplegia, Chronic Progressive External/diagnostic imaging ; Ophthalmoplegia, Chronic Progressive External/metabolism ; Ophthalmoplegia, Chronic Progressive External/pathology ; Pedigree ; Poland ; Polymorphism, Genetic ; Ribonuclease H/metabolism ; Sequence Deletion
SCR Disease Name :
Ataxia Neuropathy Spectrum
Czasopismo naukowe
Tytuł :
Response to: "Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number".
Autorzy :
Lamperti C; Division of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Marchet S; Division of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Legati A; Division of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Ghezzi D; Division of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milano, Italy.
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Źródło :
Human mutation [Hum Mutat] 2020 Nov; Vol. 41 (11), pp. 2014-2015.
Typ publikacji :
Letter; Comment
MeSH Terms :
DNA, Mitochondrial*/genetics
Ophthalmoplegia, Chronic Progressive External*
Carrier Proteins ; DNA Copy Number Variations/genetics ; Heteroplasmy ; Humans ; Mitochondrial Proteins ; Mutation
Opinia redakcyjna
Tytuł :
Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number.
Autorzy :
Finsterer J; Messerli Institute, Klinikum Landstrasse, Vienna, Austria.
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Źródło :
Human mutation [Hum Mutat] 2020 Nov; Vol. 41 (11), pp. 2012-2013.
Typ publikacji :
Letter; Comment
MeSH Terms :
DNA, Mitochondrial*/genetics
Ophthalmoplegia, Chronic Progressive External*
Carrier Proteins ; DNA Copy Number Variations/genetics ; Heteroplasmy ; Humans ; Mitochondrial Proteins ; Mutation
Opinia redakcyjna
Tytuł :
A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms.
Autorzy :
Kasamo K; Kagoshima University Graduate School of Medical and Dental Sciences, Department of Psychiatry, Kagoshima, 8-35-1 Sakuragaoka, 890-8520, Japan.
Nakamura M; Kagoshima University Graduate School of Medical and Dental Sciences, Department of Psychiatry, Kagoshima, 8-35-1 Sakuragaoka, 890-8520, Japan. Electronic address: .
Daimou Y; Kagoshima University Graduate School of Medical and Dental Sciences, Department of Psychiatry, Kagoshima, 8-35-1 Sakuragaoka, 890-8520, Japan.
Sano A; Kagoshima University Graduate School of Medical and Dental Sciences, Department of Psychiatry, Kagoshima, 8-35-1 Sakuragaoka, 890-8520, Japan.
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Źródło :
Neuroscience research [Neurosci Res] 2020 Aug; Vol. 157, pp. 58-63. Date of Electronic Publication: 2019 Jul 23.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
DNA Primase*/genetics
DNA-Directed DNA Polymerase*/genetics
Genetic Variation*
Multifunctional Enzymes*/genetics
Mutation*/genetics
Ophthalmoplegia, Chronic Progressive External*/genetics
Ophthalmoplegia, Chronic Progressive External*/pathology
Phenotype*
CARD Signaling Adaptor Proteins/genetics ; Humans ; Mitochondria/genetics ; Neoplasm Proteins/genetics ; Polymorphism, Genetic ; Pyrin/genetics ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
Autorzy :
Rodríguez-López C; Neurology, Hospital Universitario 12 de Octubre, Madrid, Comunidad de Madrid, Spain.
García-Cárdaba LM; Neurology, Hospital Universitario 12 de Octubre, Madrid, Comunidad de Madrid, Spain.
Blázquez A; Mitochondrial Disorders Laboratory, Clinical Biochemistry Department, Hospital Universitario 12 de Octubre. Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
Serrano-Lorenzo P; Mitochondrial Disorders Research Group, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Comunidad de Madrid, Spain.
Gutiérrez-Gutiérrez G; Neurology, Hospital Universitario Infanta Sofía, San Sebastian de los Reyes, Madrid, Spain.
San Millán-Tejado B; Pathology, Complejo Hospitalario de Vigo Hospital Xeral, Vigo, Galicia, Spain.
Muelas N; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Neurology, Hospital Universitari i Politecnic La Fe, Valencia, Valenciana, Spain.
Hernández-Laín A; Pathology, Neuropathology Section, Hospital Universitario 12 de Octubre, Madrid, Comunidad de Madrid, Spain.
Vílchez JJ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politecnic La Fe, Valencia, Valenciana, Spain.; Neuromuscular and Ataxias Research Group, Instituto de Investigacion Sanitaria La Fe, Valencia, Spain.
Gutiérrez-Rivas E; Neurology, Hospital Universitario 12 de Octubre, Madrid, Comunidad de Madrid, Spain.
Arenas J; Mitochondrial Disorders Laboratory, Clinical Biochemistry Department, Hospital Universitario 12 de Octubre. Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
Martín MA; Mitochondrial Disorders Laboratory, Clinical Biochemistry Department, Hospital Universitario 12 de Octubre. Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain .; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
Domínguez-González C; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Mitochondrial Disorders Research Group, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Comunidad de Madrid, Spain.; Neuromuscular Unit, Hospital Universitario 12 de Octubre, Madrid, Comunidad de Madrid, Spain.
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Źródło :
Journal of medical genetics [J Med Genet] 2020 Sep; Vol. 57 (9), pp. 643-646. Date of Electronic Publication: 2020 Mar 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cell Cycle Proteins/*genetics
DNA Helicases/*genetics
DNA Polymerase gamma/*genetics
Mitochondria/*genetics
Mitochondrial Proteins/*genetics
Ophthalmoplegia, Chronic Progressive External/*genetics
Ribonucleotide Reductases/*genetics
Adolescent ; Biopsy ; Child ; Child, Preschool ; DNA, Mitochondrial/genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Kearns-Sayre Syndrome/genetics ; Kearns-Sayre Syndrome/pathology ; Male ; Mitochondria/pathology ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/pathology ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Ophthalmoplegia, Chronic Progressive External/pathology ; Phenotype ; Point Mutation/genetics ; Thymidine Kinase
Czasopismo naukowe
Tytuł :
Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome.
Autorzy :
Guo L; State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, ENT Institute and Otorhinolaryngology Department, Fudan University Eye & ENT Hospital, Shanghai, People's Republic of China.; NHC Key Laboratory of Hearing Medicine and Fudan University, Shanghai, People's Republic of China.
Wang X; Institutes of Biomedical Sciences, Fudan University, Shanghai, People's Republic of China.; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Nantong University, Nantong, People's Republic of China.
Ji H; State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, ENT Institute and Otorhinolaryngology Department, Fudan University Eye & ENT Hospital, Shanghai, People's Republic of China.; NHC Key Laboratory of Hearing Medicine and Fudan University, Shanghai, People's Republic of China.; Department of Otorhinolaryngology, Affiliated Eye and ENT Hospital of Fudan University, Shanghai, China.
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Źródło :
DNA and cell biology [DNA Cell Biol] 2020 Aug; Vol. 39 (8), pp. 1449-1457. Date of Electronic Publication: 2020 Jun 29.
Typ publikacji :
Journal Article
MeSH Terms :
DNA, Mitochondrial/*genetics
Diseases in Twins/*genetics
Kearns-Sayre Syndrome/*genetics
Ophthalmoplegia, Chronic Progressive External/*genetics
Central Nervous System/pathology ; Child ; Chromosomes/genetics ; Diseases in Twins/pathology ; Ear/pathology ; Eye/pathology ; Gene Deletion ; Genetic Predisposition to Disease ; Heart/physiopathology ; Humans ; Kearns-Sayre Syndrome/pathology ; Male ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Mutation/genetics ; Ophthalmoplegia, Chronic Progressive External/pathology ; Phenotype
Czasopismo naukowe
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
Tytuł :
Mutation in ROBO 3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review.
Autorzy :
Pinero-Pinto E; Department of Physiotherapy, University of Seville, 41009 Seville, Spain.
Pérez-Cabezas V; Department of Nursing and Physiotherapy, Spain INDESS (Instituto Universitario para el Desarrollo Social Sostenible), University of Cadiz, 11009 Cadiz, Spain.
Tous-Rivera C; Nodo Biobanco Hospital Universitario Virgen del Rocío (Biobanco del Sistema Sanitario Público de Andalucía), 41013 Seville, Spain.
Sánchez-González JM; Department of Physics of Condensed Matter, Optics Area, University of Seville, 41012 Seville, Spain.
Ruiz-Molinero C; Department of Nursing and Physiotherapy, Spain INDESS (Instituto Universitario para el Desarrollo Social Sostenible), University of Cadiz, 11009 Cadiz, Spain.
Jiménez-Rejano JJ; Department of Physiotherapy, University of Seville, 41009 Seville, Spain.
Benítez-Lugo ML; Department of Physiotherapy, University of Seville, 41009 Seville, Spain.
Sánchez-González MC; Department of Physics of Condensed Matter, Optics Area, University of Seville, 41012 Seville, Spain.
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Źródło :
International journal of environmental research and public health [Int J Environ Res Public Health] 2020 Jun 22; Vol. 17 (12). Date of Electronic Publication: 2020 Jun 22.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Systematic Review
MeSH Terms :
Ocular Motility Disorders*
Ophthalmoplegia, Chronic Progressive External*/genetics
Receptors, Cell Surface*/genetics
Scoliosis*/genetics
Adolescent ; Child ; Female ; Humans ; Male ; Mutation ; Receptors, Immunologic
SCR Disease Name :
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Czasopismo naukowe
Tytuł :
Increased intra-mitochondrial lipofuscin aggregates with spherical dense body formation in mitochondrial myopathy.
Autorzy :
Lu JQ; Department of Pathology and Molecular Medicine/Neuropathology, McMaster University, Hamilton, Ontario, Canada. Electronic address: .
Monaco CMF; Department of Pathology and Molecular Medicine/Anatomy, McMaster University, Hamilton, Ontario, Canada.
Hawke TJ; Department of Pathology and Molecular Medicine/Anatomy, McMaster University, Hamilton, Ontario, Canada.
Yan C; Neuromuscular Center, Qilu Hospital, Shandong University, Shandong, China; Mitochondrial Medicine Laboratory, Qilu Hospital, Shandong University, Shandong, China.
Tarnopolsky MA; Department of Medicine/Neurology, McMaster University, Hamilton, Ontario, Canada; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
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Źródło :
Journal of the neurological sciences [J Neurol Sci] 2020 Jun 15; Vol. 413, pp. 116816. Date of Electronic Publication: 2020 Apr 01.
Typ publikacji :
Journal Article
MeSH Terms :
Mitochondrial Myopathies*
Myositis, Inclusion Body*
Ophthalmoplegia, Chronic Progressive External*
Adult ; Aged ; Humans ; Lipofuscin ; Mitochondria
Czasopismo naukowe
Tytuł :
Case 278: Mutation in ROBO3 Gene-Horizontal Gaze Palsy and Progressive Scoliosis.
Autorzy :
Scortegagna FA; From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.) and Genetics (M.P.M.), Diagnósticos da América SA, São Paulo, Brazil.
Pacheco FT; From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.) and Genetics (M.P.M.), Diagnósticos da América SA, São Paulo, Brazil.
Nunes RH; From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.) and Genetics (M.P.M.), Diagnósticos da América SA, São Paulo, Brazil.
Serpa A; From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.) and Genetics (M.P.M.), Diagnósticos da América SA, São Paulo, Brazil.
Migliavacca MP; From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.) and Genetics (M.P.M.), Diagnósticos da América SA, São Paulo, Brazil.
da Rocha AJ; From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.) and Genetics (M.P.M.), Diagnósticos da América SA, São Paulo, Brazil.
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Źródło :
Radiology [Radiology] 2020 Jun; Vol. 295 (3), pp. 736-740.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
DNA Mutational Analysis*
Ophthalmoplegia, Chronic Progressive External/*genetics
Receptors, Cell Surface/*genetics
Scoliosis/*genetics
Adolescent ; Consanguinity ; Female ; Humans ; Magnetic Resonance Imaging ; Ophthalmoplegia, Chronic Progressive External/diagnostic imaging ; Rare Diseases ; Scoliosis/diagnostic imaging
SCR Disease Name :
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Czasopismo naukowe
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
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
Tytuł :
The neuro-ophthalmology of inherited myopathies.
Autorzy :
Watson E; Department of Neurology, Royal North Shore Hospital.; Department of Neurogenetics, Kolling Institute for Medical Research.
Ahmad K; Department of Neurogenetics, Neurology, Royal North Shore Hospital.
Fraser CL; Save Sight Institute, Faculty of Health and Medicine, The University of Sydney.; Department of Ophthalmology, Macquarie University, Sydney, New South Wales, Australia.
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Źródło :
Current opinion in ophthalmology [Curr Opin Ophthalmol] 2019 Nov; Vol. 30 (6), pp. 476-483.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Eye Diseases, Hereditary/*genetics
Mitochondria, Muscle/*pathology
Mitochondrial Myopathies/*genetics
Oculomotor Muscles/*pathology
Ophthalmoplegia, Chronic Progressive External/*genetics
Eye Diseases, Hereditary/diagnosis ; High-Throughput Nucleotide Sequencing ; Humans ; Mitochondrial Myopathies/diagnosis ; Ophthalmoplegia, Chronic Progressive External/diagnosis
Czasopismo naukowe
Tytuł :
Progressive external ophthalmoplegia associated with novel MT-TN mutations.
Autorzy :
Visuttijai K; Department of Laboratory Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Hedberg-Oldfors C; Department of Laboratory Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Lindgren U; Department of Laboratory Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Nordström S; Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.
Elíasdóttir Ó; Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.
Lindberg C; Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.
Oldfors A; Department of Laboratory Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
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Źródło :
Acta neurologica Scandinavica [Acta Neurol Scand] 2021 Jan; Vol. 143 (1), pp. 103-108. Date of Electronic Publication: 2020 Sep 19.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mitochondrial Myopathies/*diagnosis
Mitochondrial Myopathies/*genetics
Mutation/*genetics
Ophthalmoplegia, Chronic Progressive External/*diagnosis
Ophthalmoplegia, Chronic Progressive External/*genetics
Aged ; Base Sequence/genetics ; DNA, Mitochondrial/genetics ; Female ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/pathology
Czasopismo naukowe

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