Literature DB >> 28963669

Contribution of the MRPS22 variant and a Down mosaic to the phenotype.

Josef Finsterer1, Sinda Zarrouk-Mahjoub2.   

Abstract

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Year:  2017        PMID： 28963669     DOI： 10.1007/s11011-017-0115-0

Source DB:  PubMed          Journal:  Metab Brain Dis        ISSN： 0885-7490            Impact factor:   3.584


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  5 in total

1.  A patient with mitochondrial disorder due to a novel mutation in MRPS22.

Authors:  Mustafa Kılıç; Kader-Karli Oğuz; Esra Kılıç; Deniz Yüksel; Hüseyin Demirci; Mahmut Şamil Sağıroğlu; Didem Yücel-Yılmaz; Rıza Köksal Özgül
Journal:  Metab Brain Dis       Date:  2017-07-27       Impact factor: 3.584

2.  Proton MR Spectroscopy in Patients with Leigh Syndrome.

Authors:  E Jurkiewicz; S Chełstowska; I Pakuła-Kościesza; K Malczyk; K Nowak; M Bekiesińska-Figatowska; J Sykut-Cegielska; D Piekutowska-Abramczuk; E Pronicka
Journal:  Neuroradiol J       Date:  2011-06-24

3.  Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.

Authors:  Kerstin Hallmann; Alexei P Kudin; Gábor Zsurka; Cornelia Kornblum; Jens Reimann; Burkhard Stüve; Stephan Waltz; Elke Hattingen; Holger Thiele; Peter Nürnberg; Cornelia Rüb; Wolfgang Voos; Jens Kopatz; Harald Neumann; Wolfram S Kunz
Journal:  Brain       Date:  2015-12-17       Impact factor: 13.501

4.  Audiologic Assessment in Adults With Down Syndrome.

Authors:  Pasqualina M Picciotti; Angelo Carfì; Roberta Anzivino; Gaetano Paludetti; Guido Conti; Vincenzo Brandi; Roberto Bernabei; Graziano Onder
Journal:  Am J Intellect Dev Disabil       Date:  2017-07

5.  Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.

Authors:  Mark Tarnopolsky; Brandon Meaney; Brian Robinson; Katherine Sheldon; Richard G Boles
Journal:  Am J Med Genet A       Date:  2013-06-27       Impact factor: 2.802
  5 in total

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