Peter Sparber

Noncompaction cardiomyopathy is caused by a novel in‐frame desmin ( <i>DES</i> ) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect

Andrey V. Marakhonov, Andreas Brodehl, R. P. Myasnikov et al. · Human Mutation · 2019 · 36 citations

Life Sciences, Cardiology, Genetics +14

<scp><i>GABRA1</i></scp>‐Related Disorders: From Genetic to Functional Pathways

Elisa Musto, Vivian W. Y. Liao, Katrine M. Johannesen et al. · Annals of Neurology · 2023 · 20 citations · Full text

Medicine, Genetics, Neurology +17

Deciphering the impact of coding and non-coding <i>SCN1A</i> gene variants on RNA splicing

Peter Sparber, Margarita Sharova, Kseniya Davydenko et al. · Brain · 2023 · 18 citations

Life Sciences, Genetics, Molecular Genetics +17

Genetic and Clinical Spectrum of GNE Myopathy in Russia

Aysylu Murtazina, G. E. Rudenskaya, Artem Borovikov et al. · Genes · 2022 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Specificities of the DMD Gene Mutation Spectrum in Russian Patients

Elena Zinina, Maria Bulakh, Peter Sparber et al. · International Journal of Molecular Sciences · 2022 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16