Literature DB >> 26209316

Reply: Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.

Carla Giordano1, Valerio Carelli2.   

Abstract

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Year:  2015        PMID： 26209316      PMCID： PMC4990652          DOI： 10.1093/brain/awv217

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  12 in total

1.  The epidemiology of Leber hereditary optic neuropathy in the North East of England.

Authors:  P Yu-Wai-Man; P G Griffiths; D T Brown; N Howell; D M Turnbull; P F Chinnery
Journal:  Am J Hum Genet       Date:  2002-01-07       Impact factor: 11.025

2.  Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.

Authors:  Angelica Bianco; Iñigo Martínez-Romero; Luigi Bisceglia; Leonardo D'Agruma; Paola Favia; Eduardo Ruiz-Pesini; Silvana Guerriero; Julio Montoya; Vittoria Petruzzella
Journal:  Brain       Date:  2015-07-23       Impact factor: 13.501

3.  Droplet digital PCR technology promises new applications and research areas.

Authors:  P Manoj
Journal:  Mitochondrial DNA A DNA Mapp Seq Anal       Date:  2014-04-29       Impact factor: 1.514

4.  Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Authors:  D C Wallace; G Singh; M T Lott; J A Hodge; T G Schurr; A M Lezza; L J Elsas; E K Nikoskelainen
Journal:  Science       Date:  1988-12-09       Impact factor: 47.728

5.  Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype.

Authors:  Tina Wenz; Francisca Diaz; Bruce M Spiegelman; Carlos T Moraes
Journal:  Cell Metab       Date:  2008-09       Impact factor: 27.287

6.  Natural history of Leber's hereditary optic neuropathy: longitudinal analysis of the retinal nerve fiber layer by optical coherence tomography.

Authors:  Piero Barboni; Michele Carbonelli; Giacomo Savini; Carolina do V F Ramos; Arturo Carta; Adriana Berezovsky; Solange R Salomao; Valerio Carelli; Alfredo A Sadun
Journal:  Ophthalmology       Date:  2010-01-19       Impact factor: 12.079

7.  Gene-environment interactions in Leber hereditary optic neuropathy.

Authors:  Matthew Anthony Kirkman; Patrick Yu-Wai-Man; Alex Korsten; Miriam Leonhardt; Konstantin Dimitriadis; Ireneaus F De Coo; Thomas Klopstock; Patrick Francis Chinnery
Journal:  Brain       Date:  2009-06-12       Impact factor: 13.501

8.  Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON).

Authors:  John Guy; Gerry Shaw; Fred N Ross-Cisneros; Peter Quiros; Solange R Salomao; Adriana Berezovsky; Valerio Carelli; William J Feuer; Alfredo A Sadun
Journal:  Mol Vis       Date:  2008-12-22       Impact factor: 2.367

9.  Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.

Authors:  Carla Giordano; Luisa Iommarini; Luca Giordano; Alessandra Maresca; Annalinda Pisano; Maria Lucia Valentino; Leonardo Caporali; Rocco Liguori; Stefania Deceglie; Marina Roberti; Francesca Fanelli; Flavio Fracasso; Fred N Ross-Cisneros; Pio D'Adamo; Gavin Hudson; Angela Pyle; Patrick Yu-Wai-Man; Patrick F Chinnery; Massimo Zeviani; Solange R Salomao; Adriana Berezovsky; Rubens Belfort; Dora Fix Ventura; Milton Moraes; Milton Moraes Filho; Piero Barboni; Federico Sadun; Annamaria De Negri; Alfredo A Sadun; Andrea Tancredi; Massimiliano Mancini; Giulia d'Amati; Paola Loguercio Polosa; Palmiro Cantatore; Valerio Carelli
Journal:  Brain       Date:  2013-12-24       Impact factor: 13.501

10.  NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease.

Authors:  Raffaele Cerutti; Eija Pirinen; Costanza Lamperti; Silvia Marchet; Anthony A Sauve; Wei Li; Valerio Leoni; Eric A Schon; Françoise Dantzer; Johan Auwerx; Carlo Viscomi; Massimo Zeviani
Journal:  Cell Metab       Date:  2014-05-08       Impact factor: 27.287
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  1 in total

Review 1.  Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.

Authors:  Sarah L Stenton; Holger Prokisch
Journal:  EBioMedicine       Date:  2020-05-23       Impact factor: 11.205
  1 in total

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