Literature DB >> 10874629

Clinical mitochondrial genetics.

P F Chinnery1, N Howell, R M Andrews, D M Turnbull.   

Abstract

Mesh：

Substances：

Year:  1999        PMID： 10874629      PMCID： PMC1734386     

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  184 in total

1.  An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

Authors:  D R Johns; M J Neufeld; R D Park
Journal:  Biochem Biophys Res Commun       Date:  1992-09-30       Impact factor: 3.575

2.  Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form.

Authors:  J Poulton; M E Deadman; L Bindoff; K Morten; J Land; G Brown
Journal:  Hum Mol Genet       Date:  1993-01       Impact factor: 6.150

3.  The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

Authors:  S R Hammans; M G Sweeney; M Brockington; G G Lennox; N F Lawton; C R Kennedy; J A Morgan-Hughes; A E Harding
Journal:  Brain       Date:  1993-06       Impact factor: 13.501

4.  Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria.

Authors:  H Matsutani; Y Mizusawa; M Shimoda; F Niimura; A Takeda; M Shimohira; Y Iwakawa
Journal:  Child Nephrol Urol       Date:  1992

Review 5.  Melas: an original case and clinical criteria for diagnosis.

Authors:  M Hirano; E Ricci; M R Koenigsberger; R Defendini; S G Pavlakis; D C DeVivo; S DiMauro; L P Rowland
Journal:  Neuromuscul Disord       Date:  1992       Impact factor: 4.296

6.  Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings.

Authors:  G W Bruyn; G T Bots; L N Went; P J Klinkhamer
Journal:  J Neurol Sci       Date:  1992-11       Impact factor: 3.181

7.  The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke.

Authors:  R K Mosewich; J R Donat; S DiMauro; E Ciafaloni; S Shanske; M Erasmus; D George
Journal:  Arch Neurol       Date:  1993-03

8.  Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion.

Authors:  S W Ballinger; J M Shoffner; E V Hedaya; I Trounce; M A Polak; D A Koontz; D C Wallace
Journal:  Nat Genet       Date:  1992-04       Impact factor: 38.330

9.  A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).

Authors:  G Silvestri; C T Moraes; S Shanske; S J Oh; S DiMauro
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

10.  Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA.

Authors:  W Reardon; R J Ross; M G Sweeney; L M Luxon; M E Pembrey; A E Harding; R C Trembath
Journal:  Lancet       Date:  1992-12-05       Impact factor: 79.321
View more
  16 in total

1.  The biology of mitochondrial disease.

Authors:  A Clarke
Journal:  Arch Dis Child       Date:  2000-05       Impact factor: 3.791

Review 2.  Mitochondria.

Authors:  P F Chinnery; E A Schon
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-09       Impact factor: 10.154

3.  Proteomic changes in bovine heart mitochondria with age: using a novel technique for organelle separation and enrichment.

Authors:  Ajay N Kiri; Hung-Cuong Tran; Kate L Drahos; Wenkui Lan; Donald K McRorie; Marcus J Horn
Journal:  J Biomol Tech       Date:  2005-12

4.  Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene.

Authors:  Ivo Barić; Ksenija Fumić; Danijela Petković Ramadža; Wolfgang Sperl; Franz A Zimmermann; Diana Muačević-Katanec; Zoran Mitrović; Leo Pažanin; Ljerka Cvitanović Šojat; Tihomir Kekez; Zeljko Reiner; Johannes A Mayr
Journal:  Eur J Hum Genet       Date:  2012-12-12       Impact factor: 4.246

Review 5.  The role of mitochondria in osteoarthritis.

Authors:  Francisco J Blanco; Ignacio Rego; Cristina Ruiz-Romero
Journal:  Nat Rev Rheumatol       Date:  2011-01-04       Impact factor: 20.543

Review 6.  Toxicity of antiretroviral nucleoside and nucleotide analogues: is mitochondrial toxicity the only mechanism?

Authors:  G Moyle
Journal:  Drug Saf       Date:  2000-12       Impact factor: 5.606

7.  Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.

Authors:  J A Keightley; R Anitori; M D Burton; F Quan; N R Buist; N G Kennaway
Journal:  Am J Hum Genet       Date:  2000-10-20       Impact factor: 11.025

8.  A reduced number of mtSNPs saturates mitochondrial DNA haplotype diversity of worldwide population groups.

Authors:  Antonio Salas; Jorge Amigo
Journal:  PLoS One       Date:  2010-05-03       Impact factor: 3.240

9.  The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.

Authors:  Fumiko Saito-Ohara; Yoji Fukuda; Masahiro Ito; Kishan Lal Agarwala; Masaharu Hayashi; Masafumi Matsuo; Issei Imoto; Kazuhiro Yamakawa; Yusuke Nakamura; Johji Inazawa
Journal:  Am J Hum Genet       Date:  2002-07-23       Impact factor: 11.025

10.  Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients.

Authors:  Solmaz Etemad Ahari; Massoud Houshmand; Mehdi Shafa Shariat Panahi; Sadaf Kasraie; Mostafa Moin; Mohammad Ali Bahar
Journal:  Cell Mol Neurobiol       Date:  2007-07-06       Impact factor: 5.046
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.