Literature DB >> 24840835

Compound mitochondrial DNA mutations in a neurological patient with ataxia, myoclonus and deafness.

Ji Hoon Park1, Bo Ram Yoon, Hye Jin Kim, Phil Hyu Lee, Byung-Ok Choi, Ki Wha Chung.   

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Year:  2014        PMID： 24840835     DOI： 10.1007/s12041-014-0317-8

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  19 in total

1.  Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.

Authors:  A Pandya; X J Xia; R Erdenetungalag; M Amendola; B Landa; J Radnaabazar; B Dangaasuren; G Van Tuyle; W E Nance
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

2.  A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy.

Authors:  D Thyagarajan; S Bressman; C Bruno; S Przedborski; S Shanske; T Lynch; S Fahn; S DiMauro
Journal:  Ann Neurol       Date:  2000-11       Impact factor: 10.422

3.  Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene.

Authors:  Elena Cardaioli; Paola Da Pozzo; Alfonso Cerase; Francesco Sicurelli; Alessandro Malandrini; Nicola De Stefano; Maria Laura Stromillo; Carla Battisti; Maria Teresa Dotti; Antonio Federico
Journal:  Neuromuscul Disord       Date:  2005-12-20       Impact factor: 4.296

4.  Maternally inherited deafness associated with a T1095C mutation in the mDNA.

Authors:  A Tessa; A Giannotti; L Tieri; L Vilarinho; G Marotta; F M Santorelli
Journal:  Eur J Hum Genet       Date:  2001-02       Impact factor: 4.246

5.  Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.

Authors:  Qiuju Wang; Roughua Li; Hui Zhao; Jennifer L Peters; Qiong Liu; Li Yang; Dongyi Han; John H Greinwald; Wie-Yen Young; Min-Xin Guan
Journal:  Am J Med Genet A       Date:  2005-02-15       Impact factor: 2.802

6.  Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation.

Authors:  Lidong Zhao; Wie-Yen Young; Roughua Li; Qiuju Wang; Yaping Qian; Min-Xin Guan
Journal:  Biochem Biophys Res Commun       Date:  2004-12-24       Impact factor: 3.575

7.  A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.

Authors:  V Tiranti; L D'Agruma; D Pareyson; M Mora; F Carrara; L Zelante; P Gasparini; M Zeviani
Journal:  Ann Neurol       Date:  1998-01       Impact factor: 10.422

8.  Abnormal muscle and skin mitochondria in family with myoclonus, ataxia, and deafness (May and White syndrome).

Authors:  J Vaamonde; J Muruzabal; T Tuñón; N Perez; J Artieda; M Rodriguez; J A Obeso
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-02       Impact factor: 10.154

9.  Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.

Authors:  Marianne Lévêque; Sandrine Marlin; Laurence Jonard; Vincent Procaccio; Pascal Reynier; Patrizia Amati-Bonneau; Sylvain Baulande; Denis Pierron; Didier Lacombe; Françoise Duriez; Christine Francannet; Thierry Mom; Hubert Journel; Hélène Catros; Valérie Drouin-Garraud; Marie-Françoise Obstoy; Hélène Dollfus; Marie-Madeleine Eliot; Laurence Faivre; Christian Duvillard; Remy Couderc; Eréa-Noël Garabedian; Christine Petit; Delphine Feldmann; Françoise Denoyelle
Journal:  Eur J Hum Genet       Date:  2007-07-18       Impact factor: 4.246

10.  A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness.

Authors:  M Crimi; S Galbiati; M P Perini; A Bordoni; G Malferrari; M Sciacco; I Biunno; S Strazzer; M Moggio; N Bresolin; G P Comi
Journal:  Neurology       Date:  2003-04-08       Impact factor: 9.910
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  1 in total

1.  Large-scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype.

Authors:  Abdulaziz Alsemari; Hindi Nasser Al-Hindi
Journal:  Clin Case Rep       Date:  2015-11-23
  1 in total

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