Literature DB >> 8829635

Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.

G Manfredi1, E A Schon, E Bonilla, C T Moraes, S Shanske, S DiMauro.   

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Year:  1996        PMID： 8829635     DOI： 10.1002/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  10 in total

Review 1.  Clinical mitochondrial genetics.

Authors:  P F Chinnery; N Howell; R M Andrews; D M Turnbull
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

Review 2.  Mitochondrial DNA mutations and pathogenesis.

Authors:  E A Schon; E Bonilla; S DiMauro
Journal:  J Bioenerg Biomembr       Date:  1997-04       Impact factor: 2.945

3.  Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.

Authors:  M Jaksch; S Kleinle; C Scharfe; T Klopstock; D Pongratz; J Müller-Höcker; K D Gerbitz; S Liechti-Gallati; H Lochmuller; R Horvath
Journal:  J Med Genet       Date:  2001-10       Impact factor: 6.318

Review 4.  Mitochondrial dysfunction in neurological disorders with epileptic phenotypes.

Authors:  Gábor Zsurka; Wolfram S Kunz
Journal:  J Bioenerg Biomembr       Date:  2010-12       Impact factor: 2.945

5.  MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

Authors:  M G Hanna; I P Nelson; J A Morgan-Hughes; N W Wood
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-10       Impact factor: 10.154

6.  Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency.

Authors:  Yutaka Nishigaki; Ramon Martí; William C Copeland; Michio Hirano
Journal:  J Clin Invest       Date:  2003-06       Impact factor: 14.808

Review 7.  The molecular pathology of pathogenic mitochondrial tRNA variants.

Authors:  Uwe Richter; Robert McFarland; Robert W Taylor; Sarah J Pickett
Journal:  FEBS Lett       Date:  2021-02-12       Impact factor: 3.864

8.  Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions.

Authors:  Tomoya Kawazoe; Shinsuke Tobisawa; Keizo Sugaya; Akinori Uruha; Kazuhito Miyamoto; Takashi Komori; Yu-Ichi Goto; Ichizo Nishino; Hiroshi Yoshihashi; Takeshi Mizuguchi; Naomichi Matsumoto; Naohiro Egawa; Akihiro Kawata; Eiji Isozaki
Journal:  Intern Med       Date:  2021-08-24       Impact factor: 1.271

9.  Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome.

Authors:  Marius Hippen; Gábor Zsurka; Viktoriya Peeva; Judith Machts; Kati Schwiecker; Grazyna Debska-Vielhaber; Rudolf J Wiesner; Stefan Vielhaber; Wolfram S Kunz
Journal:  Neurol Genet       Date:  2021-03-03

10.  Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission.

Authors:  Christoph Freyer; Lynsey M Cree; Arnaud Mourier; James B Stewart; Camilla Koolmeister; Dusanka Milenkovic; Timothy Wai; Vasileios I Floros; Erik Hagström; Emmanouella E Chatzidaki; Rudolf J Wiesner; David C Samuels; Nils-Göran Larsson; Patrick F Chinnery
Journal:  Nat Genet       Date:  2012-10-07       Impact factor: 38.330
  10 in total

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