Christoph Marschall

Catecholaminergic polymorphic ventricular tachycardia (CPVT): an insidious disease that can often lead to sudden cardiac death in young people

Journal: MMW Fortschritte der Medizin

Published: August 07, 2024

Topical ocular protein delivery based on protein powder suspensions in semifluorinated alkanes.

Journal: European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.V

Published: January 29, 2023

Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.

Journal: Molecular genetics and metabolism

Published: May 13, 2022

Drug Product Characterization of High Concentration Non-Aqueous Protein Powder Suspensions.

Journal: Journal of pharmaceutical sciences

Published: February 10, 2022

It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.

Journal: Journal of cardiovascular development and disease

Published: December 30, 2021

Preparation of high concentration protein powder suspensions by milling of lyophilizates.

Journal: European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.V

Published: January 12, 2021

Powder suspensions in non-aqueous vehicles for delivery of therapeutic proteins.

Journal: European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.V

Published: July 21, 2020

Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencing.

Journal: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

Published: June 22, 2020

Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms.

Journal: Journal of cardiovascular electrophysiology

Published: December 02, 2019

Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders.

Journal: Cardiovascular diagnosis and therapy

Published: November 19, 2019

Catecholaminergic polymorphic ventricular tachycardia (CPVT): an insidious disease that can often lead to sudden cardiac death in young people

Catecholaminergic polymorphic ventricular tachycardia (CPVT): an insidious disease that can often lead to sudden cardiac death in young people

Topical ocular protein delivery based on protein powder suspensions in semifluorinated alkanes.

Topical ocular protein delivery based on protein powder suspensions in semifluorinated alkanes.

Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.

Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.

Drug Product Characterization of High Concentration Non-Aqueous Protein Powder Suspensions.

Drug Product Characterization of High Concentration Non-Aqueous Protein Powder Suspensions.

It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.

It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.

Preparation of high concentration protein powder suspensions by milling of lyophilizates.

Preparation of high concentration protein powder suspensions by milling of lyophilizates.

Powder suspensions in non-aqueous vehicles for delivery of therapeutic proteins.

Powder suspensions in non-aqueous vehicles for delivery of therapeutic proteins.

Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencing.

Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencing.

Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms.

Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms.

Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders.

Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders.

Genetic basis of hypertrophic cardiomyopathy in children.

Genetic basis of hypertrophic cardiomyopathy in children.

Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.

Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.