Uwe Ahting

Uwe Ahting

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Uwe Ahting

Uwe Ahting

Publications by authors named "Uwe Ahting"

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33Publications

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Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

Eur J Med Genet 2019 Nov 10;62(11):103572. Epub 2018 Nov 10.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.11.006DOI Listing
November 2019

Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia.

Nephron 2019 Nov 13:1-5. Epub 2019 Nov 13.

Division of Pediatric Nephrology, Ludwig-Maximilians University, Dr. v. Hauner Children's Hospital, Munich, Germany,

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http://dx.doi.org/10.1159/000504412DOI Listing
November 2019

Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.

Mitochondrion 2017 09 6;36:15-20. Epub 2016 Oct 6.

Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians-Universität München, Munich, Germany; DZNE-German Center for Neurodegenerative Diseases, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.10.002DOI Listing
September 2017

Adult, isolated respiratory chain complex IV deficiency with minimal manifestations.

Folia Neuropathol 2015 ;53(2):153-7

Josef Finsterer, MD, PhD, Postfach 20, 1180 Vienna, Austria, phone: +43-1-71165-92085, fax: +43-1-4781711, e-mail:

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http://dx.doi.org/10.5114/fn.2015.52412DOI Listing
December 2016

Mitochondrial depletion syndromes in children and adults.

Can J Neurol Sci 2013 Sep;40(5):635-44

Krankenanstalt Rudolfstiftung, Vienna, Austria.

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http://dx.doi.org/10.1017/s0317167100014852DOI Listing
September 2013

Adult mitochondrial DNA depletion syndrome with mild manifestations.

Neurol Int 2013 Jun 25;5(2):28-30. Epub 2013 Jun 25.

Krankenanstalt Rudolfstiftung , Vienna, Austria.

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http://www.pagepress.org/journals/index.php/ni/article/view/
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http://dx.doi.org/10.4081/ni.2013.e9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3718249PMC
June 2013

Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation.

Eur J Pediatr 2012 May 25;171(5):859-62. Epub 2012 Jan 25.

Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nuremberg, Loschgestrasse 15, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1007/s00431-011-1662-8DOI Listing
May 2012

MitoP2: an integrative tool for the analysis of the mitochondrial proteome.

Mol Biotechnol 2008 Nov 9;40(3):306-15. Epub 2008 Sep 9.

Institute of Human Genetics, Helmholtz Zentrum Munich - German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1007/s12033-008-9100-5DOI Listing
November 2008

Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation.

J Neurol 2008 May 21;255(5):643-8. Epub 2008 Feb 21.

Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases, University of Tuebingen, Hoppe-Seyler-Str. 3, 72076 Tuebingen, Germany.

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http://dx.doi.org/10.1007/s00415-008-0763-4DOI Listing
May 2008

MitoP2, an integrated database for mitochondrial proteins.

Methods Mol Biol 2007 ;372:573-86

Institute of Human Genetics, Technical University of Munich, Germany.

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http://dx.doi.org/10.1007/978-1-59745-365-3_39DOI Listing
March 2008

Proteome analysis of mitochondrial outer membrane from Neurospora crassa.

Proteomics 2006 Jan;6(1):72-80

Institute for Physiological Chemistry, Ludwig-Maximillians-Universität, Butenandstrasse 5, 81377 Munich, Germany.

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http://dx.doi.org/10.1002/pmic.200402084DOI Listing
January 2006

Role of Tom5 in maintaining the structural stability of the TOM complex of mitochondria.

J Biol Chem 2005 Apr 8;280(15):14499-506. Epub 2005 Feb 8.

Adolf-Butenandt-Institut für Physiologische Chemie, Ludwig-Maximilians-Universität München, 81377 München, Germany.

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http://dx.doi.org/10.1074/jbc.M413667200DOI Listing
April 2005

Signal-anchored proteins follow a unique insertion pathway into the outer membrane of mitochondria.

J Biol Chem 2005 Jan 22;280(1):48-53. Epub 2004 Oct 22.

Institut für Physiologische Chemie der Universität München, D-81377 Munich, Germany.

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http://dx.doi.org/10.1074/jbc.M410905200DOI Listing
January 2005