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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.
A new allelic variant of rigid spine syndrome
Dadali E.L., Kadnikova V.A., Sharkova I.V., Polyakov A.V.
Сerebrotendinous xanthomatosis
Rudenskaya G.E., Zakharova E.Y.
Myotonic dystrophy type 2
Rudenskaya G.E., Polyakov A.V.
Adult-onset leukoencephalopathy with vanishing white matter
Rudenskaya G.E., Zakharova E.Y.
Genetics of migraine
Azimova Y.E., Tabeeva G.R., Klimov E.A.
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.
DYT6 form of idiopathic dystonia
Krasnov M.Y., Timerbaeva S.L., Abramycheva N.Y., Stepanova M.S., Shpilyukova Y.A., Ershova M.V.
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.
A clinical case of fatal familial insomnia with a transient positive response to corticosteroids
Shpilyukova Y.A., Seliverstov Y.A., Nuzhny E.P.
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.
GNE myopathy (Nonaka myopathy)
Rudenskaya G.E., Chukhrova A.L., Ryzhkova O.P.
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.
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.
The vascular type of Ehlers–Danlos syndrome
Gubanova M.V., Dobrynina L.A., Kalashnikova L.A.
1 - 15 of 15 Items

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