Nina Demina

<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 · 16 citations · Full text

Diagnosis and prevention of lysosomal storage diseases in Russia

K. D. Krasnopolskaya, T. V. Mirenburg, Elena L. Aronovich et al. · Journal of Inherited Metabolic Disease · 1992 · 11 citations

A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53

Olga Shatokhina, Nina Demina, A. V. Polyakov · Genes · 2021 · 11 citations · Full text

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder

Olga Levchenko, Nina Demina, G. E. Rudenskaya et al. · International Journal of Molecular Sciences · 2022 · 11 citations · Full text

Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia

Peter Sparber, Tatiana Krylova, Svetlana A. Repina et al. · Parkinsonism & Related Disorders · 2021 · 10 citations