Publications by authors named "Gudrun Schottmann"

14Publications

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Am J Hum Genet 2020 01 26;106(1):102-111. Epub 2019 Dec 26.

Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042493PMC
January 2020

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.

Mitochondrion 2017 11 4;37:46-54. Epub 2017 Jul 4.

NeuroCure Clinical Research Center (NCRC), Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany; Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15677249163028
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http://dx.doi.org/10.1016/j.mito.2017.06.007DOI Listing
November 2017

MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.

Brain 2016 12 29;139(Pt 12):e70. Epub 2016 Oct 29.

1 Department of Neuropaediatrics and NeuroCure Clinical Research Center, Charité Universitätsmedizin-Berlin, Germany.

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http://dx.doi.org/10.1093/brain/aww252DOI Listing
December 2016

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.

Acta Neuropathol 2016 09 2;132(3):475-8. Epub 2016 Aug 2.

Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1007/s00401-016-1602-9DOI Listing
September 2016

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

Mov Disord 2016 11 12;31(11):1733-1739. Epub 2016 Jul 12.

Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/mds.26704DOI Listing
November 2016

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

Neurol Genet 2015 Dec 22;1(4):e32. Epub 2015 Oct 22.

Departments of Neuropediatrics (G.S., D.S., F.S., S.M.-G., E.G., M.S.) and Neuropediatrics/SPZ (K.v.A.), NeuroCure Clinical Research Center, Charité-Universitätsmedizin, Berlin, Germany; the Department of Neuropathology (W.S.), Charité-Universitätsmedizin Berlin, Germany; and the DRK Children's Hospital Berlin (A.v.M.), Germany.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811389PMC
December 2015

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Neurology 2015 Feb 7;84(5):523-31. Epub 2015 Jan 7.

From the Department of Neuropediatrics and the NeuroCure Clinical Research Center (G.S., E.K., S.M.G., E.G., F.S., M.S.), and Department of Neuropediatrics/SPZ (K.v.A.), Charité-Universitätsmedizin Berlin, Germany; Department of Paediatric Neurology-Neuromuscular Service (H.J.), Evelina Children's Hospital, St Thomas' Hospital, the Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section and the Department of Clinical Neuroscience, IoP, King's College, London, UK; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics (U.S.), University of Essen, Germany; Department of Neurology (F.N.), King's College Hospital, London; Department of Clinical Genetics (C.D.), Guy's Hospital, London, UK; and Friedrich Baur Institute (J.S.), Department of Neurology, Ludwig Maximilians University Munich, Germany.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000122
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http://dx.doi.org/10.1212/WNL.0000000000001220DOI Listing
February 2015

Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome.

Eur J Med Genet 2010 Mar-Apr;53(2):85-8. Epub 2010 Jan 18.

Institut für Medizinische Genetik, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S176972121000005
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http://dx.doi.org/10.1016/j.ejmg.2010.01.002DOI Listing
July 2010