Patient-Specific Induced Pluripotent Stem Cells for SOD1-Associated Amyotrophic Lateral Sclerosis Pathogenesis Studies

Por Chestkov, I. V., Vasilieva, E. A., Illarioshkin, S. N., Lagarkova, M. A., Kiselev, S. L.
Publicado em 2014

Potential Biomarkers of the Earliest Clinical Stages of Parkinson's Disease

Por Alieva, Anelya Kh., Filatova, Elena V., Karabanov, Aleksey V., Illarioshkin, Sergey N., Slominsky, Petr A., Shadrina, Maria I.
Publicado no Parkinsons Dis (2015)

Involvement of Endocytosis and Alternative Splicing in the Formation of the Pathological Process in the Early Stages of Parkinson's Disease

Por Alieva, Anelya Kh., Shadrina, Maria I., Filatova, Elena V., Karabanov, Aleksey V., Illarioshkin, Sergey N., Limborska, Svetlana A., Slominsky, Petr A.
Publicado em 2014

Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1–12 dosage

Por Shadrina, Maria I, Semenova, Elena V, Slominsky, Petr A, Bagyeva, Gulbahar H, Illarioshkin, Sergei N, Ivanova-Smolenskaia, Irina I, Limborska, Svetlana A
Publicado em 2007

Mutations in the Parkinson’s Disease-Associated PARK2 Gene Are Accompanied by Imbalance in Programmed Cell Death Systems

Por Konovalova, E. V., Lopacheva, O. M., Grivennikov, I. A., Lebedeva, O. S., Dashinimaev, E. B., Khaspekov, L. G., Fedotova, E. Yu., Illarioshkin, S. N.
Publicado no Acta Naturae (2015)

ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia

Por Shadrina, M. I., Shulskaya, M. V., Klyushnikov, S. A., Nikopensius, T., Nelis, M., Kivistik, P. A., Komar, A. A., Limborska, S. A., Illarioshkin, S. N., Slominsky, P. A.
Publicado no Cerebellum Ataxias (2016)

Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry

Por Protasova, Maria S, Grigorenko, Anastasia P, Tyazhelova, Tatiana V, Andreeva, Tatiana V, Reshetov, Denis A, Gusev, Fedor E, Laptenko, Alexander E, Kuznetsova, Irina L, Goltsov, Andrey Y, Klyushnikov, Sergey A, Illarioshkin, Sergey N, Rogaev, Evgeny I
Publicado no Eur J Hum Genet (2016)

Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson’s Disease

Por Shulskaya, Marina V., Alieva, Anelya Kh., Vlasov, Ivan N., Zyrin, Vladimir V., Fedotova, Ekaterina Yu., Abramycheva, Natalia Yu., Usenko, Tatiana S., Yakimovsky, Andrei F., Emelyanov, Anton K., Pchelina, Sofya N., Illarioshkin, Sergei N., Slominsky, Petr A., Shadrina, Maria I.
Publicado no Front Aging Neurosci (2018)

Origin of the Mutations in the parkin Gene in Europe: Exon Rearrangements Are Independent Recurrent Events, whereas Point Mutations May Result from Founder Effects

Por Periquet, Magali, Lücking, Christoph B., Vaughan, Jenny R., Bonifati, Vincenzo, Dürr, Alexandra, De Michele, Giuseppe, Horstink, Martin W., Farrer, Matt, Illarioshkin, Sergei N., Pollak, Pierre, Borg, Michel, Brefel-Courbon, Christine, Denefle, Patrice, Meco, Giuseppe, Gasser, Thomas, Breteler, Monique M. B., Wood, Nick W., Agid, Yves, Brice, Alexis
Publicado em 2001

Manifestation of Huntington’s disease pathology in human induced pluripotent stem cell-derived neurons

Por Nekrasov, Evgeny D., Vigont, Vladimir A., Klyushnikov, Sergey A., Lebedeva, Olga S., Vassina, Ekaterina M., Bogomazova, Alexandra N., Chestkov, Ilya V., Semashko, Tatiana A., Kiseleva, Elena, Suldina, Lyubov A., Bobrovsky, Pavel A., Zimina, Olga A., Ryazantseva, Maria A., Skopin, Anton Yu., Illarioshkin, Sergey N., Kaznacheyeva, Elena V., Lagarkova, Maria A., Kiselev, Sergey L.
Publicado no Mol Neurodegener (2016)