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Vol 18, No 3 (2024)
Blood Glucocerebrosidase Activity and α-Synuclein Levels in Patients with GBA1-Associated Parkinson's Disease and Asymptomatic GBA1 Mutation Carriers
Emelyanov A.K., Usenko T.S., Kopytova A.E., Miliukhina I.V., Timofeeva A.A., Bezrukova A.I., Kulabukhova D.G., Baydakova G.V., Nikolaev M.A., Lavrinova A.O., Kudrevatykh A.V., Zhuravlev A.S., Zakharova E.Y., Pchelina S.N.
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(Rus) PDF
(Eng)
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.
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(Rus)
Vol 9, No 3 (2015)
Сerebrotendinous xanthomatosis
Rudenskaya G.E., Zakharova E.Y.
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(Rus)
Vol 6, No 2 (2012)
Myotonic dystrophy type 2
Rudenskaya G.E., Polyakov A.V.
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(Rus)
Vol 2, No 1 (2008)
Genetics of migraine
Azimova Y.E., Tabeeva G.R., Klimov E.A.
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(Rus)
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.
PDF
(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.
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(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.
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(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.
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(Rus)
Vol 13, No 4 (2019)
GNE myopathy (Nonaka myopathy)
Rudenskaya G.E., Chukhrova A.L., Ryzhkova O.P.
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(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.
PDF
(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.
PDF
(Rus)
Vol 10, No 4 (2016)
The vascular type of Ehlers–Danlos syndrome
Gubanova M.V., Dobrynina L.A., Kalashnikova L.A.
PDF
(Rus)
1 - 13 of 13 Items

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