Mikhail Yurevich Skoblov (Mikhail Y Skoblov, Mikhail Yu Skoblov, M Yu Skoblov, Mikhail Skoblov)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 25

Top Topics

Intellectual Disability

Botulinum Toxin

Cystic Fibrosis

Top Venues

International journal of molecular sciences

Nucleic acids research

NPJ genomic medicine

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

This page only lists publications with an associated author ORCID identifier.

Publications

G E Rudenskaya, Daria Guseva, Olga Mironovich, V A Kadnikova, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Oxana P Ryzhkova
[Developmental and epileptic encephalopathy produced by the ATP1A2 mutation]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 124 (6) (2024)
G E Rudenskaya, Daria Guseva, Olga Mironovich, V A Kadnikova, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Oxana P Ryzhkova
[Developmental and epileptic encephalopathy produced by the ATP1A2 mutation]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 124 (6) (2024)
Elena S Merkuryeva, Tatiana Vladimirovna Markova, Anton Tyurin, Diana Valeeva, Vladimir Kenis, Maria Sumina, Igor Sorokin, Olga A Shchagina, Mikhail Yurevich Skoblov, Maria Nefedova, Rita Khusainova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant. International journal of molecular sciences 24 (9) (2023)
Elena S Merkuryeva, Tatiana Vladimirovna Markova, Anton Tyurin, Diana Valeeva, Vladimir Kenis, Maria Sumina, Igor Sorokin, Olga A Shchagina, Mikhail Yurevich Skoblov, Maria Nefedova, Rita Khusainova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant. International journal of molecular sciences 24 (9) (2023)
Olga A Shchagina, Mariya Orlova, Aysylu F Murtazina, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Elena Dadali
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. International journal of molecular sciences 24 (12) (2023)
Alexandra Yu Filatova, Ivan Reveguk, Maria Piatkova, Daria Bessonova, Olga Kuziakova, Victoria Demakova, Alexander Romanishin, Veniamin S Fishman, Yerzhan Imanmalik, Nikolay Chekanov, Rostislav K Skitchenko, Yury A Barbitoff, Olga Kardymon, Mikhail Yurevich Skoblov
Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs. Nucleic acids research 51 (3) (2023)
Alexandra Yu Filatova, Ivan Reveguk, Maria Piatkova, Daria Bessonova, Olga Kuziakova, Victoria Demakova, Alexander Romanishin, Veniamin S Fishman, Yerzhan Imanmalik, Nikolay Chekanov, Rostislav K Skitchenko, Yury A Barbitoff, Olga Kardymon, Mikhail Yurevich Skoblov
Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs. Nucleic acids research (2023)
Alexandra Yu Filatova, Ivan Reveguk, Maria Piatkova, Daria Bessonova, Olga Kuziakova, Victoria Demakova, Alexander Romanishin, Veniamin S Fishman, Yerzhan Imanmalik, Nikolay Chekanov, Rostislav K Skitchenko, Yury A Barbitoff, Olga Kardymon, Mikhail Yurevich Skoblov
Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs. Nucleic acids research 51 (3) (2023)
Peter A Sparber, Margarita Sharova, Ksenia Davydenko, Denis Pyankov, Alexandra Yu Filatova, Mikhail Yurevich Skoblov
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing. Brain : a journal of neurology (2023)
Elena I Kondratyeva, Yuliya Melyanovskaya, Nataliya Bulatenko, Ksenia Davydenko, Alexandra Filatova, Anna Efremova, Mikhail Yurevich Skoblov, Tatiana Borisovna Bukharova, Victoria D Sherman, A Yu Voronkova, Elena Zhekaite, Stanislav Krasovskiy, Elena Amelina, Nika Petrova, Alexander Polyakov, Tagui Adyan, Marina Starinova, Maria Krasnova, Andrey Vyacheslavovich Vasilyev, Oleg Makhnach, Rena A Zinchenko, Sergey Kutsev, Yasemin Gokdemir, Bülent Taner Karadağ, Dmitry Goldshtein
Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis. International journal of molecular sciences 24 (7) (2023)
Alexandra Yu Filatova, Ivan Reveguk, Maria Piatkova, Daria Bessonova, Olga Kuziakova, Victoria Demakova, Alexander Romanishin, Veniamin S Fishman, Yerzhan Imanmalik, Nikolay Chekanov, Rostislav K Skitchenko, Yury A Barbitoff, Olga Kardymon, Mikhail Yurevich Skoblov
Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs. Nucleic acids research (2023)
Alexandra Yu Filatova, Ivan Reveguk, Maria Piatkova, Daria Bessonova, Olga Kuziakova, Victoria Demakova, Alexander Romanishin, Veniamin S Fishman, Yerzhan Imanmalik, Nikolay Chekanov, Rostislav K Skitchenko, Yury A Barbitoff, Olga Kardymon, Mikhail Yurevich Skoblov
Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs. Nucleic acids research 51 (3) (2023)
Olga A Shchagina, Mariya Orlova, Aysylu F Murtazina, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Elena Dadali
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. International journal of molecular sciences 24 (12) (2023)
Olga A Shchagina, Mariya Orlova, Aysylu F Murtazina, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Elena Dadali
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. International journal of molecular sciences 24 (12) (2023)
Igor O Bychkov, Antonina Kuznetsova, Galina Baydakova, Leonid Gorobets, Vladimir M Kenis, Alena Dimitrieva, Alexandra Yu Filatova, Vyacheslav Tabakov, Mikhail Yurevich Skoblov, Ekaterina Zakharova
Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape. NPJ genomic medicine 7 (1) (2022)
Maria S Nazarenko, Iuliia V Viakhireva, Mikhail Yurevich Skoblov, Elena V Soloveva, Aleksei A Sleptcov, Ludmila P Nazarenko
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test. International journal of molecular sciences 23 (16) (2022)
Iuliia V Viakhireva, Natalia Kalinchenko, Evgeny V Vasilyev, Galina V Chistousova, Alexandra Yu Filatova, Andrey A Marakhonov, Petr M Rubtsov, Mikhail Yurevich Skoblov, Anatoly Tiulpakov
A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA. The Journal of clinical endocrinology and metabolism 107 (9) (2022)
Igor O Bychkov, Antonina Kuznetsova, Galina Baydakova, Leonid Gorobets, Vladimir M Kenis, Alena Dimitrieva, Alexandra Yu Filatova, Vyacheslav Tabakov, Mikhail Yurevich Skoblov, Ekaterina Zakharova
Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape. NPJ genomic medicine 7 (1) (2022)
Nikolay Vladimirovich Zernov, Anna Alekseevna Guskova, Mikhail Yurevich Skoblov
FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach. Diagnostics (Basel, Switzerland) 11 (6) (2021)
Daria Konina, Peter A Sparber, Iuliia Viakhireva, Alexandra Yu Filatova, Mikhail Yurevich Skoblov
Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Functioning at mRNA and Protein Level. International journal of molecular sciences 22 (16) (2021)
Igor O Bychkov, Artur Galushkin, Alexandra Yu Filatova, Andrey Nekrasov, Marina Kurkina, Galina Baydakova, Alexandra Ilyushkina, Mikhail Yurevich Skoblov, Ekaterina Zakharova
Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing. International journal of molecular sciences 22 (8) (2021)
Elena I Kondratyeva, Tatiana Borisovna Bukharova, Anna Efremova, Yuliya Melyanovskaya, Natalia Bulatenko, Ksenia Davydenko, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Stanislav Krasovsky, Nika Petrova, Alexander Polyakov, Tagui Adyan, Elena Amelina, Vera Shadrina, Elena Zhekaite, Aysa Zodbinova, Alexander Chernyak, Rena A Zinchenko, Sergei Kutsev, Dmitry Goldshtein
Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant. Genes 12 (6) (2021)
Igor O Bychkov, Galina Baydakova, Alexandra Yu Filatova, Ochir Migiaev, Andrey A Marakhonov, Nataliya Pechatnikova, Ekaterina Pomerantseva, Fedor A Konovalov, Maria Ampleeva, Vladimir Kaimonov, Mikhail Yurevich Skoblov, Ekaterina Zakharova
Complex Transposon Insertion as a Novel Cause of Pompe Disease. International journal of molecular sciences 22 (19) (2021)
Andrey A Marakhonov, Magdalena Přechová, Fedor A Konovalov, Alexandra Yu Filatova, Maria A Zamkova, Ilya V Kanivets, Vladimir G Solonichenko, Natalia A Semenova, Rena A Zinchenko, Richard Treisman, Mikhail Yurevich Skoblov
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia. Clinical genetics 99 (5) (2021)
Andrey A Marakhonov, Andreas Brodehl, Roman P Myasnikov, Peter A Sparber, Anna V Kiseleva, Olga V Kulikova, Alexey N Meshkov, Anastasia A Zharikova, Serguey N Koretsky, Anastasia Alexandrovna Zharikova, Caroline Stanasiuk, Elena A Mershina, Valentin E Sinitsyn, Alexey O Shevchenko, Natalia P Mozheyko, Oksana M Drapkina, Sergey A Boytsov, Andreas Brodehl, Mikhail Yurevich Skoblov
Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect. Human mutation 40 (6) (2019)