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Publications by Volker Straub

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics

English

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics

English

Assessment of Disease Progression in Dysferlinopathy

English

A Comparison of the Bone and Growth Phenotype of Mdx, Mdx:cmah−/− and Mdx:utrn+/− Murine Models With the C57BL10 Wildtype Mouse

DMM Disease Models and Mechanisms

Molecular Biology

English

Phenotypic Heterogeneity in British Patients With a Founder Mutation in the FHL1 Gene

European Journal of Human Genetics

English

Facilitating Orphan Drug Development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA

Neuromuscular Disorders

English

Beta-Blockers, Left and Right Ventricular Function, and In-Vivo Calcium Influx in Muscular Dystrophy Cardiomyopathy

Multidisciplinary

English

Revised Upper Limb Module for Spinal Muscular Atrophy: 12 Month Changes

Muscle and Nerve

Molecular Neuroscience

English

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Nervno-Myshechnye Bolezni

English

In-Frame Deletion in the Seventh Immunoglobulin-Like Repeat of Filamin C in a Family With Myofibrillar Myopathy

European Journal of Human Genetics

English