E. Saifullina

发表

Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis

A. Sokolenko, E. Imyanitov, E. Suspitsin, 2018, Journal of Human Genetics.

Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia

I. Khidiyatova, R. Magzhanov, E. Khusnutdinova, 2022, Russian Journal of Genetics.

MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic

E. Khusnutdinova, I. Khidiyatova, R. Magzhanov, 2013, Russian Journal of Genetics.

[Clinical and epidemiological characteristics of hereditary motor-sensory neuropathy 1X caused by the mutation c. 259C> G (p. P87A) in the GJB1 gene of patients from the Republic of Bashkortostan].

E. Khusnutdinova, I. Khidiyatova, R. Magzhanov, 2017, Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova.

[L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene].

R. Magzhanov, E. Zakharova, E. Saifullina, 2017, Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova.

Leukoencephalopathy with vanishing white matter caused by EIF2B5 gene mutations: a case report

R. Magzhanov, E. Saifullina, E. Gaysina, 2021, Russian Journal of Child Neurology.

Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene

I. Kanivets, G. Baydakova, E. Zakharova, 2020, Metabolic Brain Disease.

MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic

E. Khusnutdinova, I. Khidiyatova, R. Magzhanov, 2013, Russian Journal of Genetics.

Major Mutation in the SPAST Gene in Patients with Autosomal Dominant Spastic Paraplegia from the Republic of Bashkortostan

E. Khusnutdinova, I. Khidiyatova, R. Magzhanov, 2019, Russian Journal of Genetics.

Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia

I. Khidiyatova, R. Magzhanov, E. Khusnutdinova, 2016, Russian Journal of Genetics.

Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia

I. Khidiyatova, R. Magzhanov, E. Khusnutdinova, 2022, Russian Journal of Genetics.

Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia

E. Khusnutdinova, I. Khidiyatova, R. Magzhanov, 2016, Russian Journal of Genetics.

Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families

I. Kanivets, R. Magzhanov, E. Zakharova, 2021, Neuromuscular Diseases.

Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis

A. Sokolenko, E. Imyanitov, E. Suspitsin, 2018, Journal of Human Genetics.