Literature DB >> 29480378

Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant'.

Pirjo Isohanni1,2, Christopher J Carroll3, Christopher B Jackson3, Max Pohjanpelto3, Tuula Lönnqvist4, Anu Suomalainen3,5.   

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Year:  2018        PMID： 29480378     DOI： 10.1007/s10048-018-0542-z

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  6 in total

Review 1.  Efficacy of proton magnetic resonance spectroscopy in neurological diagnosis and neurotherapeutic decision making.

Authors:  Alexander Lin; Brian D Ross; Kent Harris; Willis Wong
Journal:  NeuroRx       Date:  2005-04

2.  A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

Authors:  John W Yarham; Mazhor Al-Dosary; Emma L Blakely; Charlotte L Alston; Robert W Taylor; Joanna L Elson; Robert McFarland
Journal:  Hum Mutat       Date:  2011-09-19       Impact factor: 4.878

3.  Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.

Authors:  Pirjo Isohanni; Christopher J Carroll; Christopher B Jackson; Max Pohjanpelto; Tuula Lönnqvist; Anu Suomalainen
Journal:  Neurogenetics       Date:  2018-01-19       Impact factor: 2.660

4.  Lactate peak on brain MRS in children with syndromic mitochondrial diseases.

Authors:  Ching-Shiang Chi; Hsiu-Fen Lee; Chi-Ren Tsai; Wen-Shien Chen; Jai-Nien Tung; Hao-Chun Hung
Journal:  J Chin Med Assoc       Date:  2011-07-07       Impact factor: 2.743

5.  Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease.

Authors:  Doris D M Lin; Thomas O Crawford; Peter B Barker
Journal:  AJNR Am J Neuroradiol       Date:  2003-01       Impact factor: 3.825

6.  Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy.

Authors:  Shuzhen Wen; Katarzyna Niedzwiecka; Weiwei Zhao; Shutian Xu; Shaoshan Liang; Xiaodong Zhu; Honglang Xie; Déborah Tribouillard-Tanvier; Marie-France Giraud; Caihong Zeng; Alain Dautant; Róża Kucharczyk; Zhihong Liu; Jean-Paul di Rago; Huimei Chen
Journal:  Sci Rep       Date:  2016-11-04       Impact factor: 4.379
  6 in total

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