Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Beate Leo-Kottler"'
Autor:
Alessandro Achilli, Luisa Iommarini, Anna Olivieri, Maria Pala, Baharak Hooshiar Kashani, Pascal Reynier, Chiara La Morgia, Maria Lucia Valentino, Rocco Liguori, Fabio Pizza, Piero Barboni, Federico Sadun, Anna Maria De Negri, Massimo Zeviani, Helene Dollfus, Antoine Moulignier, Ghislaine Ducos, Christophe Orssaud, Dominique Bonneau, Vincent Procaccio, Beate Leo-Kottler, Sascha Fauser, Bernd Wissinger, Patrizia Amati-Bonneau, Antonio Torroni, Valerio Carelli
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e42242 (2012)
Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively in MT-ND4,
Externí odkaz:
https://doaj.org/article/d770ce21845741558bebe06e99429658
Autor:
Xuan N. Nguyen, Susanne Trauzettel-Klosinski, Elke Altpeter, Björn R. Blanke, Beate Leo-Kottler
Publikováno v:
Journal of Neuro-Ophthalmology. 33:344-348
Leber hereditary optic neuropathy (LHON) is characterized by progressive loss of central vision leading to impaired reading ability. The aim of this study was to evaluate sensory adaptation and reading ability in LHON patients.This prospective pilot
Publikováno v:
Der Ophthalmologe. 104:1060-1065
Patienten mit einer langjahrig bekannten beidseitigen Optikusatrophie und fur ADOA typischem klinischem Bild wurden durch molekulargenetische Analysen als atypische LHON-Falle identifiziert. Drei Patienten mit beidseitiger Optikusatrophie und zentral
Publikováno v:
Documenta Ophthalmologica. 108:231-240
In this study we examine the multifocal electroretinogram (mfERG) recorded from patients suffering from Leber's hereditary optic neuropathy (LHON), a degeneration of the ganglion cell and nerve fibre layers of the retina. We compared the mfERGs recor
Autor:
Beate Leo-Kottler, Hendrik P. N. Scholl, Lindsay T. Sharpe, Jan Kremers, Herbert Jägle, Bettina Sadowski
Publikováno v:
Documenta Ophthalmologica. 106:121-128
A patient describing himself as totally color blind was ordered by the judicial system to have his color vision investigated in order to establish his suitability for military service. Basic clinical (Farnsworth Panel D-15, Moreland and Rayleigh anom
Publikováno v:
Graefe’s Archive for Clinical and Experimental Ophthalmology. 240:758-764
Mitochondrial DNA mutations at nucleotide position (np) 3460 in the ND1 gene, np 11778 in the ND4 gene, and np 14484 in the ND6 gene are commonly considered to be associated with the clinical features of LHON and account for the majority of LHON case
Publikováno v:
Biochemical and Biophysical Research Communications. 295:342-347
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder characterized by central vision loss in young adults. The majority of LHON cases around the world are associated with mutations in the mitochondrial genome at nucleotide po
Autor:
Tanja Grau, Simone Schimpf-Linzenbold, Cécile Delettre, Konrad Oexle, Rejko Krüger, Benjamin Delprat, Doron Rapaport, Gertraud Engl, Beate Leo-Kottler, Tony Roscioli, Bernd Wissinger, Lena F. Burbulla
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2013, 50 (12), pp.848-858. ⟨10.1136/jmedgenet-2013-101774⟩
Journal of medical genetics 50(12), 848-858 (2013). doi:10.1136/jmedgenet-2013-101774
Journal of Medical Genetics, BMJ Publishing Group, 2013, 50 (12), pp.848-858. ⟨10.1136/jmedgenet-2013-101774⟩
Journal of medical genetics 50(12), 848-858 (2013). doi:10.1136/jmedgenet-2013-101774
International audience; Background: Mutations in OPA3 have been reported in patients with autosomal dominant optic atrophy plus cataract and Costeff syndrome. Here, we report the results of a comprehensive study on OPA3 mutations, including the mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33622bedded844c78b4f6ba8d77b1dee
https://www.hal.inserm.fr/inserm-02380065/document
https://www.hal.inserm.fr/inserm-02380065/document
Publikováno v:
Der Ophthalmologe. 97:849-854
Background Spontaneous recovery in Leber's hereditary optic neuropathy is rare. Does the clinical course of Leber's hereditary optic neuropathy (LHON) differ between patients with and without spontaneous recovery? Materials and methods We compared th
Autor:
Beate Leo-Kottler, Margot Christ-Adler
Publikováno v:
Der Ophthalmologe. 96:698-701
Background: Leber's hereditary optic neuropathy is associated with point mutations in the mitochondrial DNA (mtDNA) that appear to be pathogenetic for this disease. These mutations affect nucleotide positions 3460, 11778 and 14484. Does the clinical