Susanne Gonzalez-Morales

Berlin, BE 10117, Germany

Last Updated: 09/26/2026

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Found 21 publications

Biallelic MCUR1 nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signaling.

Biallelic MCUR1 nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signaling.

Journal: Acta neuropathologica communications
Published: April 14, 2026

Stimulation of Adult Muscle Stem Cells with BMPs Results in Direct Activation of Notch Pathway Genes.

Stimulation of Adult Muscle Stem Cells with BMPs Results in Direct Activation of Notch Pathway Genes.

Journal: Cells
Published: March 13, 2026

Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy.

Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy.

Journal: Cell
Published: April 14, 2025

Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.

Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.

Journal: International journal of molecular sciences
Published: December 16, 2024

Expression of mGluR5 in Pediatric Hodgkin and Non-Hodgkin lymphoma-A Comparative Analysis of Immunohistochemical and Clinical Findings Regarding the Association between Tumor and Paraneoplastic Neurological Disease.

Expression of mGluR5 in Pediatric Hodgkin and Non-Hodgkin lymphoma-A Comparative Analysis of Immunohistochemical and Clinical Findings Regarding the Association between Tumor and Paraneoplastic Neurological Disease.

Journal: Cancers
Published: May 10, 2024

Hodgkin Lymphoma Cell Lines and Tissues Express mGluR5: A Potential Link to Ophelia Syndrome and Paraneoplastic Neurological Disease.

Hodgkin Lymphoma Cell Lines and Tissues Express mGluR5: A Potential Link to Ophelia Syndrome and Paraneoplastic Neurological Disease.

Journal: Cells
Published: December 22, 2022

Live-imaging of revertant and therapeutically restored dystrophin in the DmdEGFP-mdx mouse model for Duchenne muscular dystrophy.

Live-imaging of revertant and therapeutically restored dystrophin in the DmdEGFP-mdx mouse model for Duchenne muscular dystrophy.

Journal: Neuropathology and applied neurobiology
Published: December 27, 2019

Extracellular matrix remodelling is associated with muscle force increase in overloaded mouse plantaris muscle.

Extracellular matrix remodelling is associated with muscle force increase in overloaded mouse plantaris muscle.

Journal: Neuropathology and applied neurobiology
Published: December 18, 2019

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

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

Journal: American journal of human genetics
Published: July 16, 2019

A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome.

A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome.

Journal: Neuropathology and applied neurobiology
Published: May 09, 2019

De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.

De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.

Journal: Journal of medical genetics
Published: August 30, 2018

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Journal: American journal of human genetics
Published: December 15, 2017
Showing 1-12 of 21

Last Updated: 09/26/2026