Peter A Sparber (P A Sparber, Peter Sparber)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 16

Top Topics

Traumatic Brain Injury

Duchenne Muscular Dystrophy

Top Venues

International journal of molecular sciences

Brain : a journal of neurology

Molecular genetics & genomic medicine

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

Publications

Anna A Bukaeva, Roman P Myasnikov, Olga V Kulikova, Alexey Nikolaevich Meshkov, Anna Vitalievna Kiseleva, Anna Petukhova, Evgenia Zotova, Peter A Sparber, Alexandra Ershova, Evgeniia Sotnikova, Maria Kudryavtseva, Anastasia Zharikova, Sergey N Koretskiy, Elena Mershina, Vasily E Ramensky, Marija Zaicenoka, Yuri Vyatkin, Alisa Muraveva, Alexandra A Abisheva, Tatiana Nikityuk, Valentin E Sinitsyn, Mikhail G Divashuk, Elena Dadali, Maria Pokrovskaya, Oxana Drapkina
A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities. International journal of molecular sciences 25 (14) (2024)
Anna A Bukaeva, Roman P Myasnikov, Olga V Kulikova, Alexey Nikolaevich Meshkov, Anna Vitalievna Kiseleva, Anna Petukhova, Evgenia Zotova, Peter A Sparber, Alexandra Ershova, Evgeniia Sotnikova, Maria Kudryavtseva, Anastasia Zharikova, Sergey N Koretskiy, Elena Mershina, Vasily E Ramensky, Marija Zaicenoka, Yuri Vyatkin, Alisa Muraveva, Alexandra A Abisheva, Tatiana Nikityuk, Valentin E Sinitsyn, Mikhail G Divashuk, Elena Dadali, Maria Pokrovskaya, Oxana Drapkina
A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities. International journal of molecular sciences 25 (14) (2024)
Anna A Bukaeva, Roman P Myasnikov, Olga V Kulikova, Alexey Nikolaevich Meshkov, Anna Vitalievna Kiseleva, Anna Petukhova, Evgenia Zotova, Peter A Sparber, Alexandra Ershova, Evgeniia Sotnikova, Maria Kudryavtseva, Anastasia Zharikova, Sergey N Koretskiy, Elena Mershina, Vasily E Ramensky, Marija Zaicenoka, Yuri Vyatkin, Alisa Muraveva, Alexandra A Abisheva, Tatiana Nikityuk, Valentin E Sinitsyn, Mikhail G Divashuk, Elena Dadali, Maria Pokrovskaya, Oxana Drapkina
A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities. International journal of molecular sciences 25 (14) (2024)
Peter A Sparber, Igor Bychkov, Denis Pyankov, Mikhail Skoblov
Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion. Human genetics (2023)
Andrey A Marakhonov, Tatyana A Vasilyeva, Marina E Minzhenkova, Natella V Sukhanova, Peter A Sparber, Natalya A Andreeva, Margarita V Teleshova, Fatima K-M Baybagisova, Nadezhda V Shilova, Sergey I Kutsev, Rena A Zinchenko
Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome. International journal of molecular sciences 24 (23) (2023)
Vassilena Iankova, Peter A Sparber, Mohammad Rohani, Petr Dusek, Boriana Büchner, Ivan Karin, Susanne A Schneider, Juan M Gorriz, Tomasz Kmiec, Thomas Klopstock
Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration. Brain : a journal of neurology (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)
Olga Mironovich, Valeriia A Kovalskaia, Peter A Sparber, Inna Sharkova, Irina Mishina, Vera Kuznetsova, Oxana P Ryzhkova
TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study. International journal of molecular sciences 24 (21) (2023)
Aysylu F Murtazina, Sergey Nikitin, Galina Rudenskaya, Inna Sharkova, Artem O Borovikov, Peter A Sparber, Olga A Shchagina, Alena Chukhrova, Oxana P Ryzhkova, Olga Mironovich, Anna A Orlova, Vasilisa Udalova, Ilya Kanivets, Sergey Korostelev, Alexander Polyakov, Elena Dadali, Sergey Kutsev
Genetic and Clinical Spectrum of GNE Myopathy in Russia. Genes 13 (11) (2022)
Elena Zinina, Maria Bulakh, Alena Chukhrova, Oxana P Ryzhkova, Peter A Sparber, Olga A Shchagina, Aleksander Polyakov, Sergey Kutsev
Specificities of the DMD Gene Mutation Spectrum in Russian Patients. International journal of molecular sciences 23 (21) (2022)
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)
Tatiana Vladimirovna Markova, Peter A Sparber, Artem Borovikov, Tatiana Nagornova, Elena Dadali
Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene. Molecular genetics & genomic medicine 9 (3) (2021)
G E Rudenskaya, V A Kadnikova, L A Bessonova, Peter A Sparber, Sergey Kurbatov, Olga Mironovich, Fedor A Konovalov, Oxana P Ryzhkova
[Autosomal dominant spastic paraplegias]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 121 (5) (2021)
Peter A Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report. BMC medical genetics 21 (Suppl 1) (2020)
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)
Peter A Sparber, Andrey Marakhonov, Alexandra Filatova, Inna Sharkova, Mikhail Skoblov
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing. Neurogenetics 19 (4) (2018)