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The vascular type of Ehlers–Danlos syndrome
Gubanova M., Dobrynina L., Kalashnikova L.
Sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO syndrome): characteristics of a series of clinical observations in Russia
Nuzhniy Y., Klyushnikov S., Seliverstov Y., Krylova T., Tsygankova P., Zakharova Y., Kasatkin D., Spirin N., Abramycheva N., Illarioshkin S.
DYT6 form of idiopathic dystonia
Krasnov M., Timerbaeva S., Abramycheva N., Stepanova M., Shpilyukova Y., Ershova M.
GNE myopathy (Nonaka myopathy)
Rudenskaya G., Chukhrova A., Ryzhkova O.
Сerebrotendinous xanthomatosis
Rudenskaya G., Zakharova E.
A clinical case of fatal familial insomnia with a transient positive response to corticosteroids
Shpilyukova Y., Seliverstov Y., Nuzhny E.
A case of myotonic dystrophy type 1 with paternal history of clinical worsening
Kurbatov S., Fedotov V., Galeeva N., Zabnenkova V., Polyakov A.
A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene
Sharkova I., Bulakh M., Bessonova L., Shchagina O., Dadaly E.
A new allelic variant of rigid spine syndrome
Dadali E., Kadnikova V., Sharkova I., Polyakov A.
Myotonic dystrophy type 2
Rudenskaya G., Polyakov A.
Genetics of migraine
Azimova J., Tabeeva1 G., Klimov E.
Atypical clinical cases of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Moroz A., Abramycheva N., Ivanova E., Konovalov R., Timerbaeva S., Illarioshkin S.
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