Literature DB >> 14702949

Mitochondrial encephalomyopathies: gene mutation.

Serenella Servidei.   

Abstract

Entities:  

Mesh：

Year:  2004        PMID： 14702949     DOI： 10.1016/s0960-8966(03)00240-2

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


× No keyword cloud information.
  13 in total

Review 1.  The genetics of strabismus.

Authors:  M Michaelides; A T Moore
Journal:  J Med Genet       Date:  2004-09       Impact factor: 6.318

2.  Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.

Authors:  Jia Qu; Ying Wang; Yi Tong; Xiangtian Zhou; Fuxin Zhao; Li Yang; Shoukang Zhang; Juanjuan Zhang; Constance E West; Min-Xin Guan
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-04-30       Impact factor: 4.799

3.  A history of mitochondrial diseases.

Authors:  Salvatore Dimauro
Journal:  J Inherit Metab Dis       Date:  2010-05-21       Impact factor: 4.982

4.  Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.

Authors:  Xiangtian Zhou; Hongxing Zhang; Fuxin Zhao; Yanchun Ji; Yi Tong; Juanjuan Zhang; Yu Zhang; Li Yang; Yaping Qian; Fan Lu; Jia Qu; Min-Xin Guan
Journal:  Mol Genet Metab       Date:  2010-04-29       Impact factor: 4.797

5.  Historical perspective on mitochondrial medicine.

Authors:  Salvatore DiMauro; Caterina Garone
Journal:  Dev Disabil Res Rev       Date:  2010

Review 6.  The role of the neuromuscular medicine and physiatry specialists in the multidisciplinary management of neuromuscular disease.

Authors:  Craig M McDonald; William M Fowler
Journal:  Phys Med Rehabil Clin N Am       Date:  2012-08       Impact factor: 1.784

7.  Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.

Authors:  Yi Tong; Yan-Hong Sun; Xiangtian Zhou; Fuxin Zhao; Yijian Mao; Qi-ping Wei; Li Yang; Jia Qu; Min-Xin Guan
Journal:  Mol Genet Metab       Date:  2010-01-06       Impact factor: 4.797

8.  Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation.

Authors:  Min Liang; Minqiang Guan; Fuxing Zhao; Xiangtian Zhou; Meixia Yuan; Yi Tong; Li Yang; Qi-Ping Wei; Yan-Hong Sun; Fan Lu; Jia Qu; Min-Xin Guan
Journal:  Biochem Biophys Res Commun       Date:  2009-03-24       Impact factor: 3.575

9.  Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.

Authors:  Fuxin Zhao; Minqiang Guan; Xiangtian Zhou; Meixia Yuan; Ming Liang; Qi Liu; Yan Liu; Yongmei Zhang; Li Yang; Yi Tong; Qi-Ping Wei; Yan-Hong Sun; Jia Qu; Min-Xin Guan
Journal:  Biochem Biophys Res Commun       Date:  2009-09-02       Impact factor: 3.575

Review 10.  Mitochondrial DNA damage and repair in neurodegenerative disorders.

Authors:  Jenq-Lin Yang; Lior Weissman; Vilhelm A Bohr; Mark P Mattson
Journal:  DNA Repair (Amst)       Date:  2008-05-07
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.