Filippo Fortuna, Piero Barboni, Rocco Liguori, Maria Lucia Valentino, Giacomo Savini, Cinzia Gellera, Caterina Mariotti, Giovanni Rizzo, Caterina Tonon, David Manners, Raffaele Lodi, Alfredo A Sadun, Valerio Carelli. Brain 2009
Times Cited: 101
Times Cited: 101
Times Cited
Times Co-cited
Similarity
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
V Campuzano, L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli,[...]. Science 1996
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Clinical and genetic abnormalities in patients with Friedreich's ataxia.
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Ophthalmic features of Friedreich ataxia.
S Noval, I Contreras, I Sanz-Gallego, R K Manrique, J Arpa. Eye (Lond) 2012
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Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.
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Analysis of the visual system in Friedreich ataxia.
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Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia.
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Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.
Valerio Carelli, Chiara La Morgia, Maria Lucia Valentino, Piero Barboni, Fred N Ross-Cisneros, Alfredo A Sadun. Biochim Biophys Acta 2009
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Mitochondrial dysfunction as a cause of optic neuropathies.
Valerio Carelli, Fred N Ross-Cisneros, Alfredo A Sadun. Prog Retin Eye Res 2004
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Patrick Yu-Wai-Man, Philip G Griffiths, Patrick F Chinnery. Prog Retin Eye Res 2011
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Clinical features of Friedreich's ataxia: classical and atypical phenotypes.
Michael H Parkinson, Sylvia Boesch, Wolfgang Nachbauer, Caterina Mariotti, Paola Giunti. J Neurochem 2013
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OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
Patrizia Amati-Bonneau, Maria Lucia Valentino, Pascal Reynier, Maria Esther Gallardo, Belén Bornstein, Anne Boissière, Yolanda Campos, Henry Rivera, Jesús González de la Aleja, Rosanna Carroccia,[...]. Brain 2008
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Scale for the assessment and rating of ataxia: development of a new clinical scale.
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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
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Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
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Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy.
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Brain structural damage in Friedreich's ataxia.
R Della Nave, A Ginestroni, M Giannelli, C Tessa, E Salvatore, F Salvi, M T Dotti, G De Michele, S Piacentini, M Mascalchi. J Neurol Neurosurg Psychiatry 2008
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Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies.
Valerio Carelli, Fred N Ross-Cisneros, Alfredo A Sadun. Neurochem Int 2002
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Multi-system neurological disease is common in patients with OPA1 mutations.
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Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
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Gene-environment interactions in Leber hereditary optic neuropathy.
Matthew Anthony Kirkman, Patrick Yu-Wai-Man, Alex Korsten, Miriam Leonhardt, Konstantin Dimitriadis, Ireneaus F De Coo, Thomas Klopstock, Patrick Francis Chinnery. Brain 2009
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Oxidative stress in patients with Friedreich ataxia.
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Pathophysiology of the optic neuropathy associated with Friedreich ataxia.
Claron D Alldredge, Christopher R Schlieve, Neil R Miller, Leonard A Levin. Arch Ophthalmol 2003
Claron D Alldredge, Christopher R Schlieve, Neil R Miller, Leonard A Levin. Arch Ophthalmol 2003
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Friedreich's ataxia. Revision of the phenotype according to molecular genetics.
L Schöls, G Amoiridis, H Przuntek, G Frank, J T Epplen, C Epplen. Brain 1997
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Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
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The neuro-ophthalmology of mitochondrial disease.
J Alexander Fraser, Valérie Biousse, Nancy J Newman. Surv Ophthalmol 2010
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Mortality in Friedreich ataxia.
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Superior cerebellar peduncle atrophy in Friedreich's ataxia correlates with disease symptoms.
Hamed Akhlaghi, Louise Corben, Nellie Georgiou-Karistianis, John Bradshaw, Elsdon Storey, Martin B Delatycki, Gary F Egan. Cerebellum 2011
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Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study.
M C Mantovan, A Martinuzzi, F Squarzanti, A Bolla, I Silvestri, G Liessi, C Macchi, G Ruzza, C P Trevisan, C Angelini. Eur J Neurol 2006
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Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
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TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
Sylvain Hanein, Isabelle Perrault, Olivier Roche, Sylvie Gerber, Noman Khadom, Marlene Rio, Nathalie Boddaert, Marc Jean-Pierre, Nora Brahimi, Valérie Serre,[...]. Am J Hum Genet 2009
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Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial.
Nicholas A Di Prospero, Angela Baker, Neal Jeffries, Kenneth H Fischbeck. Lancet Neurol 2007
Nicholas A Di Prospero, Angela Baker, Neal Jeffries, Kenneth H Fischbeck. Lancet Neurol 2007
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A combined voxel-based morphometry and 1H-MRS study in patients with Friedreich's ataxia.
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Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
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A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy.
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Friedreich ataxia: neuropathology revised.
Arnulf H Koeppen, Joseph E Mazurkiewicz. J Neuropathol Exp Neurol 2013
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Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
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Optical coherence tomography and visual field findings in patients with Friedreich ataxia.
Ersel Dağ, Nurgül Örnek, Kemal Örnek, Inci Elif Erbahçeci-Timur. J Neuroophthalmol 2014
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Progression of Friedreich ataxia: quantitative characterization over 5 years.
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14
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
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Inherited mitochondrial optic neuropathies.
P Yu-Wai-Man, P G Griffiths, G Hudson, P F Chinnery. J Med Genet 2009
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Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.
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OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
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10
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
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10
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
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10
Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations.
Giacomo Savini, Piero Barboni, Maria Lucia Valentino, Pasquale Montagna, Pietro Cortelli, Anna Maria De Negri, Federico Sadun, Stefania Bianchi, Lora Longanesi, Maurizio Zanini,[...]. Ophthalmology 2005
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10
Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction.
Sami Ellouze, Sébastien Augustin, Aicha Bouaita, Crystel Bonnet, Manuel Simonutti, Valérie Forster, Serge Picaud, Jose-Alain Sahel, Marisol Corral-Debrinski. Am J Hum Genet 2008
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10
Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.
Carla Giordano, Monica Montopoli, Elena Perli, Maurizia Orlandi, Marianna Fantin, Fred N Ross-Cisneros, Laura Caparrotta, Andrea Martinuzzi, Eugenio Ragazzi, Anna Ghelli,[...]. Brain 2011
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10
Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography.
Piero Barboni, Michele Carbonelli, Giacomo Savini, Carolina do V F Ramos, Arturo Carta, Adriana Berezovsky, Solange R Salomao, Valerio Carelli, Alfredo A Sadun. Ophthalmology 2010
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10
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.