Zobrazeno 1 - 10
of 1 507
pro vyhledávání: '"Optic Atrophies"'
Autor:
Balakrishnan S; Apollo Hospitals, Jubilee Hills, Hyderabad, India. Electronic address: gierra@gmail.com., Goud I; Apollo Hospitals, Jubilee Hills, Hyderabad, India. Electronic address: driravthy_g@apollohospitals.com., Teegala ML; Bhishak Fetal Medicine Center, Vijayawada, Andhra Pradesh, India. Electronic address: madhavi.teegala@gmail.com.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104929. Date of Electronic Publication: 2024 Feb 28.
Autor:
Gupta V; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi., Panigrahi A; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi., Somarajan BI; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi., Gupta S; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi., Tripathy K; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi., Singh A; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi., Sharma A; Department of Anatomy, All India Institute of Medical Sciences, New Delhi., Tandon R; Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi., Pradhan D; Department of Biomedical Informatics, Indian Council of Medical Research, New Delhi., Sharma A; Department of Anatomy, All India Institute of Medical Sciences, New Delhi., Kushwaha T; Department of Biophysics, All India Institute of Medical Sciences, New Delhi., Inampudi KK; Department of Biophysics, All India Institute of Medical Sciences, New Delhi.
Publikováno v:
Molecular vision [Mol Vis] 2023 Dec 26; Vol. 29, pp. 365-377. Date of Electronic Publication: 2023 Dec 26 (Print Publication: 2023).
Autor:
Damagatla M; VST Centre for Glaucoma Services, LV Prasad Eye Institute, Hyderabad, India., Verma A; Institute of Rare Eye Diseases and Ocular Genetics, LV Prasad Eye Institute, Hyderabad, India., Pochaboina V; Institute of Rare Eye Diseases and Ocular Genetics, LV Prasad Eye Institute, Hyderabad, India., Bhate M; Strabismus, Paediatric and Neuro-Ophthalmology Services (MB), Jasti V Ramanamma Children's Eye Care Center, LV Prasad Eye Institute, Hyderabad, India., Senthil S; VST Centre for Glaucoma Services, LV Prasad Eye Institute, Hyderabad, India.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2024 Aug; Vol. 45 (4), pp. 395-400. Date of Electronic Publication: 2024 May 01.
Autor:
Gerber S; IHU Imagine - Institut des Maladies Génétiques, Laboratoire de Génétique Ophtalmologique (LGO), Université Paris Descartes, Paris, France., Lessard L; Service d'Electroneuromyographie et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France., Rouzier C; Service de Génétique, Hôpital l'Archet 2, CHU de Nice, Nice, France.; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, Nice, France., Ait-El-Mkadem Saadi S; Service de Génétique, Hôpital l'Archet 2, CHU de Nice, Nice, France.; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, Nice, France., Ameli R; Service de Neuroradiologie, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France., Thobois S; Service de Neurologie C - Troubles du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France., Abouaf L; Cabinet d'Ophtalmologie des Tullistes, Ecully, France., Bouhour F; Service d'Electroneuromyographie et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France., Kaplan J; IHU Imagine - Institut des Maladies Génétiques, Laboratoire de Génétique Ophtalmologique (LGO), Université Paris Descartes, Paris, France., Putoux A; Unité de Génétique Clinique, Service de Génétique, Centre Labellisé Anomalies du Développement, Hospices Civils de Lyon, Bron, France.; Centre de Recherche en Neurosciences de Lyon, Equipe GENDEV, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, Bron, France., Pegat A; Service d'Electroneuromyographie et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France.; Service de Neurologie C - Troubles du Mouvement et Pathologies Neuromusculaires, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, Bron, France., Rozet JM; IHU Imagine - Institut des Maladies Génétiques, Laboratoire de Génétique Ophtalmologique (LGO), Université Paris Descartes, Paris, France.
Publikováno v:
EMBO molecular medicine [EMBO Mol Med] 2023 Aug 07; Vol. 15 (8), pp. e16090. Date of Electronic Publication: 2023 Jul 11.
Answer to Gerber et al. "Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy".
Autor:
Gál A; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Santos JH; Mechanistic Toxicology Branch, Division of the National Toxicology Program (DNTP), National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health (NIH), Research Triangle Park, NC, USA., Molnár MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Hajnóczky G; MitoCare Center for Mitochondrial Imaging Research and Diagnostics, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, PA, USA.
Publikováno v:
EMBO molecular medicine [EMBO Mol Med] 2023 Aug 07; Vol. 15 (8), pp. e16251. Date of Electronic Publication: 2023 Jul 11.
Autor:
van Renterghem V; Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium., Vilain C; Department of Genetics, University Hospital Erasme, Brussels, Belgium., Devriendt K; Department of Genetics, University Hospitals Leuven, Leuven, Belgium., Casteels I; Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium., Smits G; Department of Genetics, University Hospital Erasme, Brussels, Belgium., Soblet J; Department of Genetics, University Hospital Erasme, Brussels, Belgium., Balikova I; Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium. Electronic address: Irina.Balikova@uzleuven.be.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2023 Apr; Vol. 66 (4), pp. 104729. Date of Electronic Publication: 2023 Feb 11.
Autor:
Wei Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing Shuaifuyuan 1, Dongcheng District, Beijing, 100730, People's Republic of China. yp924@sina.com., Qian M; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing Shuaifuyuan 1, Dongcheng District, Beijing, 100730, People's Republic of China., Yang Y; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing Shuaifuyuan 1, Dongcheng District, Beijing, 100730, People's Republic of China.
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Dec; Vol. 43 (12), pp. 6997-7000. Date of Electronic Publication: 2022 Jul 31.
Autor:
Przyklenk M; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Karmacharya S; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Bonasera D; Genetic Instability, Cell Death and Inflammation Laboratory, Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Pasanen-Zentz AL; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Kmoch S; Research Unit of Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Paulsson M; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Wagener R; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Liccardi G; Genetic Instability, Cell Death and Inflammation Laboratory, Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Schiavinato A; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany. aschiav1@uni-koeln.de.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany. aschiav1@uni-koeln.de.; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany. aschiav1@uni-koeln.de.
Publikováno v:
Scientific reports [Sci Rep] 2024 Apr 23; Vol. 14 (1), pp. 9321. Date of Electronic Publication: 2024 Apr 23.
Autor:
Sun Y; Graduate School of Xuzhou Medical University, Jiangsu Xuzhou, China.; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China.; Department of obstetrics, Fengxian People's Hospital, Xuzhou, Jiangsu, China., Guo L; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China.; Graduate School of Bengbu Medical College, Bengbu, Anhui, China., Sha J; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China., Tao H; Graduate School of Xuzhou Medical University, Jiangsu Xuzhou, China.; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China., Wang X; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China.; Graduate School of Bengbu Medical College, Bengbu, Anhui, China., Liu Y; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China., Zhai J; Graduate School of Xuzhou Medical University, Jiangsu Xuzhou, China.; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China., Wu J; Graduate School of Xuzhou Medical University, Jiangsu Xuzhou, China.; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China., Zhao Y; Department of laboratory, Taixing Maternity and Child Health Care Hospital, Taixing, Jiangsu, China.
Publikováno v:
Medicine [Medicine (Baltimore)] 2022 Oct 07; Vol. 101 (40), pp. e30558.