Informacja

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

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


Starter badań:

Tytuł:
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.
Autorzy:
Montano V; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
Lopriore P; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
Gruosso F; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Comi GP; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, University of Milan, Milan, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
Filosto M; Department of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Brescia, Italy.
Lamperti C; UO Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C.Besta, Milan, Italy.
Mongini T; Neuromuscular Unit, Department of Neurosciences, University of Torino, Turin, Italy.
Musumeci O; Department of Clinical and Experimental Medicine, UOC Neurologia e Malattie Neuromuscolari, University of Messina, Messina, Italy.
Servidei S; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.
Tonin P; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.
Toscano A; Department of Clinical and Experimental Medicine, UOC Neurologia e Malattie Neuromuscolari, University of Messina, Messina, Italy.
Primiano G; Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.
Valentino ML; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Bortolani S; Neuromuscular Unit, Department of Neurosciences, University of Torino, Turin, Italy.
Marchet S; UO Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C.Besta, Milan, Italy.
Ricci G; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
Modenese A; Neurorehabilitation Unit, Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Cotti Piccinelli S; Department of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Brescia, Italy.
Risi B; Department of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Brescia, Italy.
Meneri M; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, University of Milan, Milan, Italy.; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, Italy.
Arena IG; Department of Clinical and Experimental Medicine, UOC Neurologia e Malattie Neuromuscolari, University of Messina, Messina, Italy.
Siciliano G; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
Mancuso M; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy. .
Pokaż więcej
Źródło:
Journal of neurology [J Neurol] 2022 Dec; Vol. 269 (12), pp. 6555-6565. Date of Electronic Publication: 2022 Aug 18.
Typ publikacji:
Journal Article
MeSH Terms:
Mitochondrial Myopathies*/complications
Mitochondrial Myopathies*/diagnosis
Ophthalmoplegia, Chronic Progressive External*
Humans ; Follow-Up Studies ; Walk Test/methods ; Time Factors ; Walking
Czasopismo naukowe
Tytuł:
Comment on ``Long-term results of palpebral fissure transfer with no lower eyelid spacer in chronic progressive external ophthalmoplegia''.
Autorzy:
Finsterer J; Vienna, Austria.
Zarrouk S; Tunis, Tunisia.
Pokaż więcej
Źródło:
American journal of ophthalmology [Am J Ophthalmol] 2022 Apr; Vol. 236, pp. 319. Date of Electronic Publication: 2021 Nov 15.
Typ publikacji:
Letter; Comment
MeSH Terms:
Eyelids*/surgery
Ophthalmoplegia, Chronic Progressive External*/complications
Ophthalmoplegia, Chronic Progressive External*/surgery
Humans
Opinia redakcyjna
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
Tytuł:
Reply to the Letter "Long-Term Results of Palpebral Fissure Transfer With No Lower Eyelid Spacer in Chronic Progressive External Ophthalmoplegia".
Autorzy:
Karimi N; Tehran, Iran.
Kashkouli MB; Tehran, Iran.
Pokaż więcej
Źródło:
American journal of ophthalmology [Am J Ophthalmol] 2022 Apr; Vol. 236, pp. 320. Date of Electronic Publication: 2021 Nov 15.
Typ publikacji:
Letter; Comment
MeSH Terms:
Eyelids*/surgery
Ophthalmoplegia, Chronic Progressive External*/surgery
Humans
Opinia redakcyjna
Tytuł:
Long-term Results of Palpebral Fissure Transfer With No Lower Eyelid Spacer in Chronic Progressive External Ophthalmoplegia.
Autorzy:
Karimi N; Skull Base Research Center, Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Kashkouli MB; Skull Base Research Center, Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. Electronic address: .
Tahanian F; Skull Base Research Center, Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Abdolalizadeh P; Skull Base Research Center, Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Jafarpour S; Skull Base Research Center, Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Ghahvehchian H; Skull Base Research Center, Eye Research Center, The Five Senses Institute, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Pokaż więcej
Źródło:
American journal of ophthalmology [Am J Ophthalmol] 2022 Feb; Vol. 234, pp. 99-107. Date of Electronic Publication: 2021 Jul 30.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Blepharoplasty*/methods
Blepharoptosis*/surgery
Ophthalmoplegia, Chronic Progressive External*/surgery
Child, Preschool ; Eyelids/surgery ; Humans ; Infant ; Oculomotor Muscles/surgery ; Retrospective Studies ; Treatment Outcome
Czasopismo naukowe
Tytuł:
Functional magnetic resonance imaging and diffusion tensor imaging findings in a patient with ROBO3-related horizontal gaze palsy with progressive scoliosis.
Autorzy:
Borba FC; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.
Campos BM; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Laboratório de Neuroimagem, Campinas SP, Brazil.
Gonçalves JPN; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Genética Médica, Campinas SP, Brazil.
Martins Junior CR; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.
França Junior MC; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.
Pokaż więcej
Źródło:
Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 2021 Dec; Vol. 79 (12), pp. 1153-1154.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Ophthalmoplegia, Chronic Progressive External*/diagnostic imaging
Scoliosis*/diagnostic imaging
Diffusion Magnetic Resonance Imaging ; Female ; Humans ; Receptors, Cell Surface ; Young Adult
SCR Disease Name:
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Czasopismo naukowe
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
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
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.
Pokaż więcej
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:
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. .
Pokaż więcej
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*
Asians/*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:
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.
Pokaż więcej
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:
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
Autorzy:
Marchet S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Legati A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Nasca A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Di Meo I; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Spagnolo M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Zanetti N; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Catania A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.; Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Università degli Studi di Milano, Milano, Italy.
Pokaż więcej
Źródło:
Human mutation [Hum Mutat] 2020 Oct; Vol. 41 (10), pp. 1745-1750. Date of Electronic Publication: 2020 Jul 22.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Carrier Proteins*/genetics
Mitochondrial Myopathies*/genetics
Mitochondrial Proteins*/genetics
Ophthalmoplegia*/genetics
Ophthalmoplegia, Chronic Progressive External*/genetics
Ophthalmoplegia, Chronic Progressive External*/pathology
DNA, Mitochondrial/genetics ; Homozygote ; Humans ; Mutation
Czasopismo naukowe
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.
Pokaż więcej
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:
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.
Pokaż więcej
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:
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.
Pokaż więcej
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.
Pokaż więcej
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.
Pokaż więcej
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:
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.
Pokaż więcej
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. .
Pokaż więcej
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

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

Prześlij opinię

Twoje opinie są dla nas bardzo ważne i mogą być niezwykle pomocne w pokazaniu nam, gdzie możemy dokonać ulepszeń. Bylibyśmy bardzo wdzięczni za poświęcenie kilku chwil na wypełnienie krótkiego formularza.

Formularz