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European Journal of Medical Genetics|January 19, 2010
Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndromeDenise Horn, Gudrun Schottmann, Peter Meinecke
Neurology. Genetics|April 12, 2016
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsyGudrun Schottmann, Dominik Seelow, Franziska Seifert, et al.
Mitochondrion|July 9, 2017
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasiaGudrun Schottmann, Sylvie Picker-Minh, Jana Marie Schwarz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 13, 2016
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH geneGudrun Schottmann, Akosua Sarpong, Carmen Lorenz, et al.
Frontiers in Neuroscience|December 26, 2024
Impact of genetic test interpretation on a <i>VPS13B</i> missense variant in Cohen syndromeGudrun Schottmann, Carmen Martínez Almudéver, Julia C M Knop, et al.
Neurology|January 9, 2015
Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathyGudrun Schottmann, Heinz Jungbluth, Ulrike Schara, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 14, 2019
Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegenerationPetr Dusek, Ralf Mekle, Marta Skowronska, et al.
American Journal of Human Genetics|December 30, 2019
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia TotalisMirjana Gusic, Gudrun Schottmann, René G Feichtinger, et al.
American Journal of Human Genetics|March 1, 2016
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone FracturesEllen Knierim, Hiromi Hirata, Nicole I Wolf, et al.
American Journal of Human Genetics|July 21, 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesChristopher A Powell, Robert Kopajtich, Aaron R D'Souza, et al.
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