Publications by authors named "Stephan Rust"

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Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitro.
Katharina Heckmann, Arcangela Iuso, Janine Reunert, Marianne Grüneberg, Anja Seelhöfer, Stephan Rust

JIMD Rep· November 2024

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SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.
Annabelle Arlt, Esra Akova-Öztürk, Anja Schirmacher, Bernhard Schlüter, Stephan Rust

J Neurogenet· June 2024

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Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency.
Maximilian Penkl, Johannes A Mayr, René G Feichtinger, Ralf Reilmann, Otfried Debus, Stephan Rust

Metabolites· April 2024

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Mitochondrial DNA mutations in Medulloblastoma.
Viktoria L E Funke, Sarah Sandmann, Viktoria Melcher, Jochen Seggewiss, Judit Horvath, Stephan Rust

Acta Neuropathol Commun· July 2023

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A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy.
Anja Penkl, Janine Reunert, Otfried M Debus, Anna Homann, Ulrike Och, Stephan Rust

Am J Med Genet A· March 2022

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3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.
Melanie Meyer, Jana C Hollenbeck, Janine Reunert, Anja Seelhöfer, Stephan Rust

J Inherit Metab Dis· November 2021

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Uridine Treatment of the First Known Case of SLC25A36 Deficiency.
Luisa Jasper, Pasquale Scarcia, Stephan Rust, Janine Reunert, Ferdinando Palmieri

Int J Mol Sci· September 2021

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Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
Christina M Quitmann, Stephan Rust, Janine Reunert, Saskia Biskup, Barbara Fiedler

Child Neurol Open· August 2021

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Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).
Lisa Kemme, Marianne Grüneberg, Janine Reunert, Stephan Rust, Julien Park

JIMD Rep· July 2021

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TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents.
Julien H Park, Jiraporn Ousingsawat, Inês Cabrita, Ruth E Bettels, Jörg Große-Onnebrink, Stephan Rust

J Med Genet· April 2021

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Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case Report.
Aziza Miriam Belkheir, Janine Reunert, Christiane Elpers, Lambert van den Heuvel, Richard Rodenburg, Stephan Rust

Front Neurol· April 2021

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TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms.
Sabine Dittner-Moormann, Charles Marques Lourenco, Janine Reunert, Ryuichi Nishinakamura, Satomi S Tanaka, Stephan Rust

J Med Genet· March 2021

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Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
Janine Reunert, Alijda van den Heuvel, Stephan Rust, Thorsten Marquardt

Am J Med Genet A· March 2021

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SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.
Thorsten Marquardt, Vladimir Bzduch, Max Hogrebe, Stephan Rust, Janine Reunert

Mol Genet Metab Rep· December 2020

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N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
Julien H Park, Robert G Mealer, Abdallah F Elias, Susanne Hoffmann, Marianne Grüneberg, Stephan Rust

J Inherit Metab Dis· November 2020

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SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Julien H Park, Christiane Elpers, Janine Reunert, Michael L McCormick, Julia Mohr, Stephan Rust

Brain· August 2019

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Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I.
Janine Reunert, Stephan Rust, Marianne Grüneberg, Anja Seelhöfer, Daniel Kurz

Am J Med Genet A· July 2019

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Association of Serotonin Transporter Gene AluJb Methylation with Major Depression, Amygdala Responsiveness, 5-HTTLPR/rs25531 Polymorphism, and Stress.
Ilona Schneider, Harald Kugel, Ronny Redlich, Dominik Grotegerd, Christian Bürger, Stephan Rust

Neuropsychopharmacology· May 2018

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SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.
Julien H Park, Max Hogrebe, Manfred Fobker, Renate Brackmann, Barbara Fiedler, Stephan Rust

Genet Med· February 2018

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Limitations of galactose therapy in phosphoglucomutase 1 deficiency.
Kristine Nolting, Julien H Park, Laura C Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan Rust

Mol Genet Metab Rep· December 2017

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When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria.
Jan-Niclas Schwade, Matthias Endmann, Thomas Hofmann, Stephan Rust, Jörn Oliver Sass

J Pediatr Endocrinol Metab· October 2017

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A Mutation in the G-Protein Gene Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction.
Birgit Stallmeyer, Johanna Kuß, Stefan Kotthoff, Sven Zumhagen, Kirsty Vowinkel, Stephan Rust

Circ Res· May 2017

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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, Sharita Timal, Janine Reunert, Stephan Rust

Am J Hum Genet· February 2016

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Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Janine Reunert, Manfred Fobker, Frank Kannenberg, Ingrid Du Chesne, Maria Plate, Stephan Rust

EBioMedicine· February 2016

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SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Julien H Park, Max Hogrebe, Marianne Grüneberg, Ingrid DuChesne, Ava L von der Heiden, Stephan Rust

Am J Hum Genet· December 2015

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