Publications by authors named "Susanne Morales-Gonzalez"

11Publications

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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January 2020

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.

JIMD Rep 2019 14;43:27-35. Epub 2018 Apr 14.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

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April 2018

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

Hum Genet 2017 07 24;136(7):903-910. Epub 2017 May 24.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

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July 2017

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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December 2015

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

J Med Genet 2015 Sep 5;52(9):607-11. Epub 2015 Jun 5.

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

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September 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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February 2015

Myostatin is a key mediator between energy metabolism and endurance capacity of skeletal muscle.

Am J Physiol Regul Integr Comp Physiol 2014 Aug 25;307(4):R444-54. Epub 2014 Jun 25.

Sorbonne Universités, Universités Européennes, l'Université Pierre et Marie Curie (UPMC), Paris 06, Myology Center of Research and Institut National de la Santé et de la Recherche Médicale, UMR S974 and Centre National de la Recherche Scientifique, FRE 3617 and Institut de Myologie, Paris, France; Laboratoire "End:icap", UFR des Sciences de la Santé, Université de Versailles Saint-Quentin-en-Yvelines, France; Laboratoire International Associé - Biothérapies Appliquées aux Handicaps Neuromusculaires, Centre Scientifique de Monaco, Monaco;

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August 2014

Blockade of ActRIIB signaling triggers muscle fatigability and metabolic myopathy.

Mol Ther 2014 Aug 27;22(8):1423-1433. Epub 2014 May 27.

Université Pierre et Marie Curie, Institut de Myologie, Unité mixte de recherche UPMC-AIM UM 76, INSERM U 974, CNRS UMR 7215, Paris, France; UFR des Sciences de la Santé, Université de Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France; Service Génétique Médicale, CHU Necker-Enfants Malades, Université Paris Descartes, Paris, France. Electronic address:

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August 2014