S. Kurbatov

发表

A case of hereditary motor and sensory neuropathy type IVA with unusual genealogy

V. Fedotov, O. Shchagina, A. Murtazina, 2018, Neuromuscular Diseases.

Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia

T. Fedotova, E. Dadali, A. Polyakov, 2020, Neuromuscular Diseases.

[Alarming signs and symptoms in the early diagnostics of late onset Pompe disease: super omnia clinica].

M. Kovalchuk, S. Kurbatov, S. Nikitin, 2015, Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova.

Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: mutational spectrum and phenotypes.

S. Mikhaylova, E. Nikolaeva, A. Degtyareva, 2021, Mitochondrion.

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

K. Claeys, T. Stojkovic, W. Kress, 2019, Journal of Neurology.

[Molecular genetic diagnosis of Stargardt disease].

I. A. Ronzina, A. Polyakov, V. V. Strel’nikov, 2017, Vestnik oftalmologii.

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia

E. Conte, F. Girolamo, J. Desaphy, 2020, Frontiers in Neurology.

A new mutation in the TYMP-gene: clinical and morphological characteristics of a patient with MNGIE syndrome

R. Deev, S. N. Bardakov, V. A. Tsargush, 2022, Neuromuscular Diseases.

The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen’s and Becker’s myotonias

V. Fedotov, E. Dadali, A. Polyakov, 2012, Russian Journal of Genetics.

[Alarming signs and symptoms in the early diagnostics of late onset Pompe disease: super omnia clinica].

M. Kovalchuk, S. Kurbatov, S. Nikitin, 2015, Zhurnal Nevrologii i Psikhiatrii imeni S.S. Korsakova.