Literature DB >> 7745422

Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy.

P Montagna, G Plazzi, P Cortelli, V Carelli, E Lugaresi, P Barboni, M Fiocchi.   

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Year:  1995        PMID： 7745422      PMCID： PMC1073505          DOI： 10.1136/jnnp.58.5.640

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  4 in total

1.  Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family.

Authors:  P Cortelli; P Montagna; P Avoni; S Sangiorgi; N Bresolin; M Moggio; P Zaniol; V Mantovani; P Barboni; B Barbiroli
Journal:  Neurology       Date:  1991-08       Impact factor: 9.910

2.  A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.

Authors:  N Howell; M Xu; S Halvorson; I Bodis-Wollner; J Sherman
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

3.  Platelet mitochondrial function in Leber's hereditary optic neuropathy.

Authors:  P R Smith; J M Cooper; G G Govan; A E Harding; A H Schapira
Journal:  J Neurol Sci       Date:  1994-03       Impact factor: 3.181

4.  Screening for mitochondrial cytopathies: the sub-anaerobic threshold exercise test (SATET).

Authors:  L Nashef; R J Lane
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-09       Impact factor: 10.154
  4 in total
  8 in total

Review 1.  Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Authors:  Patrick Yu-Wai-Man; Philip G Griffiths; Patrick F Chinnery
Journal:  Prog Retin Eye Res       Date:  2010-11-26       Impact factor: 21.198

Review 2.  Leber hereditary optic neuropathy.

Authors:  P Yu-Wai-Man; D M Turnbull; P F Chinnery
Journal:  J Med Genet       Date:  2002-03       Impact factor: 6.318

Review 3.  Medical management of hereditary optic neuropathies.

Authors:  Chiara La Morgia; Michele Carbonelli; Piero Barboni; Alfredo Arrigo Sadun; Valerio Carelli
Journal:  Front Neurol       Date:  2014-07-31       Impact factor: 4.003

Review 4.  Inherited mitochondrial optic neuropathies.

Authors:  P Yu-Wai-Man; P G Griffiths; G Hudson; P F Chinnery
Journal:  J Med Genet       Date:  2008-11-10       Impact factor: 6.318

5.  Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?

Authors:  Valerio Carelli; Flavia Franceschini; Silvia Venturi; Piero Barboni; Giacomo Savini; Giuseppe Barbieri; Ettore Pirro; Chiara La Morgia; Maria L Valentino; Francesca Zanardi; Francesco S Violante; Stefano Mattioli
Journal:  Environ Health Perspect       Date:  2007-01       Impact factor: 9.031

6.  Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.

Authors:  Leonardo Caporali; Anna Maria Ghelli; Luisa Iommarini; Alessandra Maresca; Maria Lucia Valentino; Chiara La Morgia; Rocco Liguori; Claudia Zanna; Piero Barboni; Vera De Nardo; Andrea Martinuzzi; Giovanni Rizzo; Caterina Tonon; Raffaele Lodi; Maria Antonietta Calvaruso; Martina Cappelletti; Anna Maria Porcelli; Alessandro Achilli; Maria Pala; Antonio Torroni; Valerio Carelli
Journal:  Biochim Biophys Acta       Date:  2012-12-14

7.  Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.

Authors:  Chiara La Morgia; Alessandra Maresca; Giulia Amore; Laura Ludovica Gramegna; Michele Carbonelli; Emanuela Scimonelli; Alberto Danese; Simone Patergnani; Leonardo Caporali; Francesca Tagliavini; Valentina Del Dotto; Mariantonietta Capristo; Federico Sadun; Piero Barboni; Giacomo Savini; Stefania Evangelisti; Claudio Bianchini; Maria Lucia Valentino; Rocco Liguori; Caterina Tonon; Carlotta Giorgi; Paolo Pinton; Raffaele Lodi; Valerio Carelli
Journal:  Sci Rep       Date:  2020-03-16       Impact factor: 4.379

8.  Expanding and validating the biomarkers for mitochondrial diseases.

Authors:  Alessandra Maresca; Valentina Del Dotto; Martina Romagnoli; Chiara La Morgia; Lidia Di Vito; Mariantonietta Capristo; Maria Lucia Valentino; Valerio Carelli
Journal:  J Mol Med (Berl)       Date:  2020-08-26       Impact factor: 4.599
  8 in total

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