Search

Issue
Title
Authors
Vol 12, No 3 (2022)
Characteristics of genetic changes in the SMN1 gene in spinal muscular atrophy 5q
Dil A.V., Nazarov V.D., Sidorenko D.V., Lapin S.V., Emanuel V.L.
PDF
(Rus)
Vol 13, No 2 (2023)
Consensus concept of modern effective therapy for Duchenne muscular dystrophy
Gremyakova T.A., Artemyeva S.B., Baybarina E.N., Vashakmadze N.D., Guzeva V.I., Gusakova E.V., Kuzenkova L.M., Lavrova A.E., Lvova O.A., Mikhaylova S.V., Nazarenko L.P., Nikitin S.S., Polyakov A.V., Dadali E.L., Rumyantsev A.G., Sakbaeva G.E., Suslov V.M., Gremyakova O.I., Stepanov A.A., Shakhovskaya N.I.
PDF
(Rus)
Vol 12, No 2 (2022)
Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects
Tebieva I.S., Murtazina A.F., Artemieva S.B., Gabisova Y.V., Zinchenko R.A.
PDF
(Rus)
Vol 12, No 1 (2022)
Experience of using gene replacement therapy with Zolgensma® (onasemnogene abeparvovec) in real clinical practice in Russia
Artemyeva S.B., Papina Y.O., Shidlovskaya O.A., Monakhova A.V., Vlodavets D.V.
PDF
(Rus) PDF
(Eng)
Vol 15, No 2 (2025)
Experience of using onasemnogen abeparvovek in children with spinal muscular atrophy 5q with 2 or 3 copies of the SMN2 gene in a multidisciplinary center in Saint Petersburg
Shchugareva L.M., Koroleva V.D., Poteshkina O.V.
PDF
(Rus)
Vol 14, No 3 (2024)
Possibility of exon skipping therapy for Duchenne muscular dystrophy in Russian patients: present and future
Zinina E.V., Bulakh M.V., Ryzhkova O.P., Shchagina O.A., Polyakov A.V.
PDF
(Rus)
Vol 5, No 3 (2015)
Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy
Kurbatov S.A., Nikitin S.S., Zakharova E.Y.
PDF
(Rus)
Vol 9, No 2 (2019)
Late-onset Pompe disease: preliminary results of enzyme replacement therapy
Smertina L.P., Ausheva F.I., Gryaznov A.V., Svetlakov D.A., Kolbasin L.N.
PDF
(Rus)
Vol 14, No 3 (2024)
Positive experience in treating patients with Duchenne muscular dystrophy caused by a nonsense mutation: family clinical case
Kraeva L.S., Fadeeva E.V.
PDF
(Rus)
1 - 9 of 9 Items

Search tips:

  • Search terms are case-insensitive
  • Common words are ignored
  • By default only articles containing all terms in the query are returned (i.e., AND is implied)
  • Combine multiple words with OR to find articles containing either term; e.g., education OR research
  • Use parentheses to create more complex queries; e.g., archive ((journal OR conference) NOT theses)
  • Search for an exact phrase by putting it in quotes; e.g., "open access publishing"
  • Exclude a word by prefixing it with - or NOT; e.g. online -politics or online NOT politics
  • Use * in a term as a wildcard to match any sequence of characters; e.g., soci* morality would match documents containing "sociological" or "societal"