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Vol 9, No 2 (2015)

A case of myotonic dystrophy type 1 with paternal history of clinical worsening

Kurbatov S.A., Fedotov V.P., Galeeva N.M., Zabnenkova V.V., Polyakov A.V.

(Rus)

Vol 14, No 4 (2020)

A clinical case of fatal familial insomnia with a transient positive response to corticosteroids

Shpilyukova Y.A., Seliverstov Y.A., Nuzhny E.P.

(Rus)

Vol 7, No 2 (2013)

A new allelic variant of rigid spine syndrome

Dadali E.L., Kadnikova V.A., Sharkova I.V., Polyakov A.V.

(Rus)

Vol 15, No 3 (2021)

A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene

Sharkova I.V., Bulakh M.V., Bessonova L.А., Shchagina O.A., Dadaly E.L.

(Rus)

Vol 6, No 2 (2012)

Myotonic dystrophy type 2

Rudenskaya G.E., Polyakov A.V.

(Rus)

Vol 16, No 4 (2022)

Identification of RNA markers associated with Parkinson's disease using multiplex gene expression analysis

Ardashirova N.S., Abramycheva N.Y., Fedotova E.Y., Sukhorukov V.S., Voronkova A.S., Mudzhiri N.M., Illarioshkin S.N.

(Rus)

Vol 2, No 1 (2008)

Genetics of migraine

Azimova J.E., Tabeeva1 G.R., Klimov E.A.

(Rus)

Vol 10, No 4 (2016)

The vascular type of Ehlers–Danlos syndrome

Gubanova M.V., Dobrynina L.A., Kalashnikova L.A.

(Rus)

Vol 11, No 1 (2017)

Atypical clinical cases of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Moroz A.A., Abramycheva N.Y., Ivanova E.O., Konovalov R.N., Timerbaeva S.L., Illarioshkin S.N.

(Rus)

Vol 10, No 2 (2016)

DYT6 form of idiopathic dystonia

Krasnov M.Y., Timerbaeva S.L., Abramycheva N.Y., Stepanova M.S., Shpilyukova Y.A., Ershova M.V.

(Rus)

Vol 13, No 2 (2019)

Sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO syndrome): characteristics of a series of clinical observations in Russia

Nuzhniy Y.P., Klyushnikov S.A., Seliverstov Y.A., Krylova T.D., Tsygankova P.G., Zakharova Y.Y., Kasatkin D.S., Spirin N.N., Abramycheva N.Y., Illarioshkin S.N.

(Rus)

Vol 10, No 2 (2016)

Adult-onset leukoencephalopathy with vanishing white matter

Rudenskaya G.E., Zakharova E.Y.

(Rus)

Vol 13, No 4 (2019)

GNE myopathy (Nonaka myopathy)

Rudenskaya G.E., Chukhrova A.L., Ryzhkova O.P.

(Rus)

Vol 9, No 3 (2015)

Сerebrotendinous xanthomatosis

Rudenskaya G.E., Zakharova E.Y.

(Rus)

Vol 14, No 1 (2020)

Clinical, molecular, and genetic characteristics of the hereditary spastic paraplegia type 3

Rudenskaya G.E., Kadnikova V.A., Beetz C., Proskokova T.N., Sermyagina I.G., Stepanova A.A., Fedotov V.P., Dadaly E.L., Guseva D.M., Markova Т.V., Ryzhkova O.P.

(Rus)

1 - 15 of 15 Items

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