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Mitochondrial disease

author

Anthony H V Schapira

1950 -

published in: The Lancet

date of publication: 2006-07-01

language: English

main subject: mitochondrion

Cites articles 131

Date

Title

Authors

2005-02-01

A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.

Eduardo Tolosa
2005-01-25

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

Patrick F. Chinnery
2005-02-02

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Eleonora Lamantea, Massimiliano Filosto, Massimo Zeviani
2005-02-01

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency
2005-04-19

Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability

Gregory Petsko, Alexandra Beilina, Mark R Cookson, David W. Miller
2005-04-01

Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.

David Burn, Thomas Foltynie, Roger A. Barker, Angela Pyle, Patrick F. Chinnery, Sharon M Keers
2005-04-01

Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up

Raffaele Lodi, David Manners, Anthony H V Schapira, J M Cooper
2005-05-05

Extension of murine life span by overexpression of catalase targeted to mitochondria

Peter S. Rabinovitch
2005-01-12

mtDNA mutations increase tumorigenicity in prostate cancer

W Dana Flanders
2004-12-01

Discovery of a major D-loop replication origin reveals two modes of human mtDNA synthesis

Jennifer L Fish
2004-10-20

Heterologous mitochondrial DNA recombination in human cells

William M. Mauck III
2004-01

Degradation of paternal mitochondria after fertilization: implications for heteroplasmy, assisted reproductive technologies and mtDNA inheritance
2004-08-01

Risk of developing a mitochondrial DNA deletion disorder

Hanns Lochmüller, Rita Horvath, David Thorburn, Laurence Bindoff, Joanna Poulton, Robert William Taylor, Douglass Matthew Turnbull, Patrick F. Chinnery, Massimo Zeviani, Sara Shanske
2004-01-01

Mitochondrial encephalomyopathies: gene mutation
2004-10-21

A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.

Gerald I. Shulman, Kitt Falk Petersen
2004-04-01

Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation

Martin John Barron, Robert McFarland, Andrew M Schaefer, Patrick F. Chinnery, Robert William Taylor, Douglass Matthew Turnbull, Julie M. Simon
2004-11-01

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.

Maria Lucia Valentino, Alessandro Achilli, Alessandra Lugaresi, Raffaele Lodi, Valerio Carelli, Antonio Federico, Piero Barboni
2004-08-01

SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I.

Alfred S. Lewin
2004-09-01

Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines

Andrea Martinuzzi, Simone Beretta, Gessica Sala, Valerio Carelli, Anthony H V Schapira
2004-12-15

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

Anu Jalanko, Neil Ashley, Johannes N Spelbrink, Ian Holt, Henna Tyynismaa, Joanna Poulton
2004-08-01

Two families with autosomal dominant progressive external ophthalmoplegia
2004-01-01

Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility.

Niels Jørgensen, Tina Kold Jensen, Niels E. Skakkebæk, Ewa Rajpert-De Meyts, Henrik Leffers
2004-09-01

The clinical significance of the POLG gene polymorphism in male infertility

Csilla Krausz, Gianni Forti
2004-05-01

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

Robert K Naviaux
2004-01-01

POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.

Massimiliano Filosto
2004-09-01

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

Leena Peltonen-Palotie, Juha O. Rinne
2004-11-01

A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.

Massimiliano Filosto, Salvatore DiMauro
2004-10-01

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene

Cristina Ugalde, Lambert P van den Heuvel
2004-12-01

Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency

Stacey Kiat-Hong Tay, Claudia Nesti
2004-02-01

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

Willy Lissens, Jelle Smet
2004-04-30

Mitochondrial dysfunction and oxidative damage in parkin-deficient mice
2004-05-01

Mitochondrial complex I and IV activities in leukocytes from patients with parkin mutations

Meltem Müftüoğlu, Ayse Ercan

Article - wd:Q34543745

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