Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Anna Maria, De Negri"'
Autor:
Chiara La Morgia, Maria Lucia Cascavilla, Anna Maria De Negri, Marcello Romano, Fabrizio Canalini, Silvia Rossi, Diego Centonze, Massimo Filippi
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Leber’s Hereditary Optic Neuropathy (LHON) is a maternally inherited optic nerve disease primarily caused by mutations in mitochondrial DNA (mtDNA). The peak of onset is typically between 15 and 30 years, but variability exists. Misdiagnosis, often
Externí odkaz:
https://doaj.org/article/bed703d46ff74761b591af176439c00c
Autor:
Niccolò, Di Giosaffatte, Michele, Valiante, Stefano, Tricarico, Giulia, Parise, Anna Maria, De Negri, Guido, Ricciotti, Lara, Florean, Alessandro, Paiardini, Irene, Bottillo, Paola, Grammatico
Publikováno v:
Genes. 13(7)
Choroideremia is an X-linked recessive condition presenting in males, with progressive degeneration of retinal and choroidal tissues leading to progressive visual loss. Its pathological mechanism is due to alterations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1a5a9760a7e3045b3c33a18fe79f47d7
https://pubmed.ncbi.nlm.nih.gov/35886051
https://pubmed.ncbi.nlm.nih.gov/35886051
Autor:
Piero Barboni, Chiara La Morgia, Maria Lucia Cascavilla, Eun Hee Hong, Marco Battista, Anna Majander, Leonardo Caporali, Vincenzo Starace, Giulia Amore, Antonio Di Renzo, Michele Carbonelli, Paolo Nucci, Neringa Jurkute, Benson S. Chen, Roberta Panebianco, Anna Maria De Negri, Federico Sadun, Vincenzo Parisi, Francesco Bandello, Alfredo A. Sadun, Valerio Carelli, Patrick Yu-Wai-Man
Publikováno v:
American journal of ophthalmology.
To investigate the clinical and molecular genetic features of childhood-onset Leber hereditary optic neuropathy (LHON) to gain a better understanding of the factors influencing the visual outcome in this atypical form of the disease.Retrospective coh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15628c04012bf822d5dde55087202e5e
https://pubmed.ncbi.nlm.nih.gov/36543315
https://pubmed.ncbi.nlm.nih.gov/36543315
Autor:
Agnese De Giorgi, Anna Maria De Negri, Leonardo Caporali, Vincenzo Leuzzi, Claudio Fiorini, Francesca Nardecchia, Valerio Carelli, Flavia Palombo
Publikováno v:
Annals of Clinical and Translational Neurology
CoenzymeQ10 is one of the main cellular antioxidants and an essential lipid involved in numerous cell reactions, such as energy production and apoptosis modulation. A large number of enzymes are involved in CoQ10 biosynthesis. Mutations in the genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::866167b5a4ada7c6fb67185cdb67e6cd
http://hdl.handle.net/11585/794015
http://hdl.handle.net/11585/794015
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:
Vincenzo Parisi, Anna Maria De Negri, Lucia Ziccardi, Lucilla Barbano, Piero Barboni, Federico Sadun, Valerio Carelli, Chiara La Morgia
Publikováno v:
Ophthalmology. 126(7)
Purpose: To assess changes of retinal ganglion cells (RGCs) and visual pathways’ function in patients with Leber's hereditary optic neuropathy (LHON) during 12 months of follow-up of the chronic phase. Design: Retrospective case series. Participant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6dbea9a20f191639a6e09a8876c180b
https://pubmed.ncbi.nlm.nih.gov/31973837
https://pubmed.ncbi.nlm.nih.gov/31973837
Autor:
Alfedo A. Sadun, Piero Barboni, Federico Sadun, Lucia Ziccardi, Vincenzo Parisi, Valerio Carelli, Chiara La Morgia, Daniela Giannini, Anna Maria De Negri
To differentiate the bioelectrical cortical responses driven by axons from central and mid-peripheral retina in Leber’s hereditary optic neuropathy (LHON) by using multifocal visual evoked potentials (mfVEP). Seventeen genetically confirmed LHON pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::028cdc645d9ab56c27b71a0b8fe28e4e
http://hdl.handle.net/11585/525644
http://hdl.handle.net/11585/525644
Autor:
Valerio Carelli, Pasquale Montagna, Piero Barboni, Lora Longanesi, Antonello de Vivo, Giacomo Savini, Federico Sadun, Maria Lucia Valentino, Pietro Cortelli, Maurizio Zanini, Anna Maria De Negri, Stefania Bianchi
Publikováno v:
Ophthalmology. 112:120-126
To study retinal nerve fiber layer (RNFL) thickness by optical coherence tomography (StratusOCT) in patients with Leber's hereditary optic neuropathy (LHON).Cross-sectional study.Thirty-eight patients with LHON were analyzed and compared with an age-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa29a69f6560463f91faa1720a347dc3
https://doi.org/10.1016/j.ophtha.2004.06.034
https://doi.org/10.1016/j.ophtha.2004.06.034
Autor:
Arlon Bastos Da Rosa, Milton Rocha Moraes, Rafael E. Andrade, Angelo Passos, Adriana Berezovsky, Federico Sadun, Anna Maria De Negri, Valerio Carelli, Peter A. Quiros, Solange Rios Salomão, Rubens Belfort, Alfredo A. Sadun
Publikováno v:
American Journal of Ophthalmology. 137:271-277
Purpose To report the ophthalmologic characteristics of a newly identified seven-generation pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy consisting of 328 living individuals, 111 of whom are maternally related. Design Observationa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bea8eaa33c850625720cc737752c5d4
https://doi.org/10.1016/j.ajo.2003.08.010
https://doi.org/10.1016/j.ajo.2003.08.010
Publikováno v:
Pediatric Neurology. 19:308-312
The authors report the clinical features and the results of genetic and biochemical studies of a child affected by ND1/3460 Leber's hereditary optic neuropathy, who demonstrates a persistent visual recovery after protracted monitoring. A 10-year-old
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5b6a75d0a80172895411b3a17e818ba
https://doi.org/10.1016/s0887-8994(98)00060-5
https://doi.org/10.1016/s0887-8994(98)00060-5