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Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome.
Sparber P, Filatova A, Anisimova I, Markova T, Voinova V, Chuhrova A, Tabakov V, Skoblov M. Sparber P, et al. Eur J Med Genet. 2020 Dec;63(12):104088. doi: 10.1016/j.ejmg.2020.104088. Epub 2020 Oct 15. Eur J Med Genet. 2020. PMID: 33069932
Genetic and Clinical Spectrum of GNE Myopathy in Russia.
Murtazina A, Nikitin S, Rudenskaya G, Sharkova I, Borovikov A, Sparber P, Shchagina O, Chukhrova A, Ryzhkova O, Shatokhina O, Orlova A, Udalova V, Kanivets I, Korostelev S, Polyakov A, Dadali E, Kutsev S. Murtazina A, et al. Among authors: sparber p. Genes (Basel). 2022 Oct 31;13(11):1991. doi: 10.3390/genes13111991. Genes (Basel). 2022. PMID: 36360228 Free PMC article.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Musto E, Liao VWY, Johannesen KM, Fenger CD, Lederer D, Kothur K, Fisk K, Bennetts B, Vrielynck P, Delaby D, Ceulemans B, Weckhuysen S, Sparber P, Bouman A, Ardern-Holmes S, Troedson C, Battaglia DI, Goel H, Feyma T, Bakhtiari S, Tjoa L, Boxill M, Demina N, Shchagina O, Dadali E, Kruer M, Cantalupo G, Contaldo I, Polster T, Isidor B, Bova SM, Fazeli W, Wouters L, Miranda MJ, Darra F, Pede E, Le Duc D, Jamra RA, Küry S, Proietti J, McSweeney N, Brokamp E, Andrews PI, Gouray Garcia M, Chebib M, Møller RS, Ahring PK, Gardella E. Musto E, et al. Among authors: sparber p. Ann Neurol. 2023 Aug 22. doi: 10.1002/ana.26774. Online ahead of print. Ann Neurol. 2023. PMID: 37606373
A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.
Bukaeva A, Myasnikov R, Kulikova O, Meshkov A, Kiseleva A, Petukhova A, Zotova E, Sparber P, Ershova A, Sotnikova E, Kudryavtseva M, Zharikova A, Koretskiy S, Mershina E, Ramensky V, Zaicenoka M, Vyatkin Y, Muraveva A, Abisheva A, Nikityuk T, Sinitsyn V, Divashuk M, Dadali E, Pokrovskaya M, Drapkina O. Bukaeva A, et al. Among authors: sparber p. Int J Mol Sci. 2024 Jul 10;25(14):7556. doi: 10.3390/ijms25147556. Int J Mol Sci. 2024. PMID: 39062799 Free PMC article.
[Autosomal dominant spastic paraplegias].
Rudenskaya GE, Kadnikova VA, Bessonova LA, Sparber PA, Kurbatov SA, Mironovich OL, Konovalov FA, Ryzhkova OP. Rudenskaya GE, et al. Among authors: sparber pa. Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(5):75-87. doi: 10.17116/jnevro202112105175. Zh Nevrol Psikhiatr Im S S Korsakova. 2021. PMID: 34184482 Russian.
Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.
Bobreshova AM, Ionova SA, Kadyshev VV, Sukhanova NV, Viakhireva IV, Filatova AY, Zhurkova NV, Sparber PA, Marakhonov AV, Vasilyeva TA, Shchagina OA, Kutsev SI, Zinchenko RA. Bobreshova AM, et al. Among authors: sparber pa. Int J Mol Sci. 2024 Oct 19;25(20):11260. doi: 10.3390/ijms252011260. Int J Mol Sci. 2024. PMID: 39457042 Free PMC article.
25 results