Literature DB >> 1678125

Clinical spectrum of mitochondrial DNA mutation at base pair 8344.

S F Berkovic, E A Shoubridge, F Andermann, E Andermann, S Carpenter, G Karpati.   

Abstract

Mesh：

Substances：

Year:  1991        PMID： 1678125     DOI： 10.1016/0140-6736(91)91090-h

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


× No keyword cloud information.
  18 in total

1.  Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.

Authors:  Akira Sudo; Shiho Honzawa; Ikuya Nonaka; Yu-Ichi Goto
Journal:  J Hum Genet       Date:  2004-01-17       Impact factor: 3.172

2.  Is there an association between NC_012920.1: m.8277T> C mitochondrial variation the mt-NC7 locus, and migraine with aura?

Authors:  S Güler; H Gürkan; S Demir
Journal:  Hippokratia       Date:  2020 Apr-Jun       Impact factor: 0.471

3.  MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases.

Authors:  Masami Hashimoto; Sandra R Bacman; Susana Peralta; Marni J Falk; Anne Chomyn; David C Chan; Sion L Williams; Carlos T Moraes
Journal:  Mol Ther       Date:  2015-07-10       Impact factor: 11.454

4.  Mitochondrial DNA mutations in multiple symmetric lipomatosis.

Authors:  T Klopstock; M Naumann; P Seibel; B Shalke; K Reiners; H Reichmann
Journal:  Mol Cell Biochem       Date:  1997-09       Impact factor: 3.396

5.  MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.

Authors:  C C Huang; R S Chen; C M Chen; H S Wang; C C Lee; C Y Pang; H S Hsu; H C Lee; Y H Wei
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-05       Impact factor: 10.154

6.  Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

Authors:  L Boulet; G Karpati; E A Shoubridge
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

Review 7.  Mitochondrial DNA sequence variation in human evolution and disease.

Authors:  D C Wallace
Journal:  Proc Natl Acad Sci U S A       Date:  1994-09-13       Impact factor: 11.205

8.  The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.

Authors:  J Loeffen; J Smeitink; R Triepels; R Smeets; M Schuelke; R Sengers; F Trijbels; B Hamel; R Mullaart; L van den Heuvel
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

9.  Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

Authors:  N G Larsson; M H Tulinius; E Holme; A Oldfors; O Andersen; J Wahlström; J Aasly
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

10.  Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

Authors:  E Holme; N G Larsson; A Oldfors; M Tulinius; P Sahlin; G Stenman
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.