Peter Sparber
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Explore the profile of Peter Sparber including associated specialties, affiliations and a list of published articles.
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19
Citations
75
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Recent Articles
1.
Mikhalchuk K, Zabnenkova V, Braslavskaya S, Chukhrova A, Ryadninskaya N, Dadaly E, et al.
Clin Genet
. 2025 Feb;
PMID: 39905579
Spinal muscular atrophy 5q (5q SMA) is one of the most prevalent autosomal recessive disorders globally. The underlying cause of 5q SMA is attributed to variants in SMN1. Exon 7...
2.
Sparber P, Ulas E, Filatova A, Tatarskiy E, Perelman G, Makretskaya N, et al.
J Clin Endocrinol Metab
. 2024 Dec;
PMID: 39657131
Context: Pathogenic variants in the TBCE gene, encoding tubulin-specific chaperone E crucial for tubulin folding, are linked to three severe neurodevelopmental disorders: Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, Kenny-Caffey syndrome type 1, and...
3.
Bukaeva A, Myasnikov R, Kulikova O, Meshkov A, Kiseleva A, Petukhova A, et al.
Int J Mol Sci
. 2024 Jul;
25(14).
PMID: 39062799
A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated a three-generation family with cardiomyopathy and various extracardiac abnormalities that had long...
4.
Shatokhina O, Kovalskaia V, Sparber P, Sharkova I, Mishina I, Kuznetsova V, et al.
Int J Mol Sci
. 2023 Nov;
24(21).
PMID: 37958557
In this study, we report a novel splice variant in the gene identified in a patient presenting with seizures and neurodevelopmental delay. This paper represents the second investigation of pathogenic...
5.
Sparber P, Sharova M, Davydenko K, Pyankov D, Filatova A, Skoblov M
Brain
. 2023 Nov;
147(4):1278-1293.
PMID: 37956038
Variants that disrupt normal pre-mRNA splicing are increasingly being recognized as a major cause of monogenic disorders. The SCN1A gene, a key epilepsy gene that is linked to various epilepsy...
6.
Iankova V, Sparber P, Rohani M, Dusek P, Buchner B, Karin I, et al.
Brain
. 2023 Oct;
147(4):1389-1398.
PMID: 37831662
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an ultraorphan neurogenetic disease from the group of neurodegeneration with brain iron accumulation (NBIA) disorders. Here we report cross-sectional and longitudinal data to define...
7.
Musto E, Liao V, Johannesen K, Fenger C, Lederer D, Kothur K, et al.
Ann Neurol
. 2023 Aug;
PMID: 37606373
Objective: Variants in GABRA1 have been associated with a broad epilepsy spectrum, ranging from genetic generalized epilepsies to developmental and epileptic encephalopathies. However, our understanding of what determines the phenotype...
8.
Sparber P, Bychkov I, Pyankov D, Skoblov M
Hum Genet
. 2023 May;
142(8):1043-1053.
PMID: 37186029
Dravet syndrome is a devastating epileptic syndrome characterized by intractable epilepsy with an early age of onset, regression of developmental milestones, ataxia, and motor deficits. Loss-of-function pathogenic variants in the...
9.
Zinina E, Bulakh M, Chukhrova A, Ryzhkova O, Sparber P, Shchagina O, et al.
Int J Mol Sci
. 2022 Nov;
23(21).
PMID: 36361501
Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common form of muscular dystrophy, accounting for over 50% of all cases. In this regard, in Russia we carry out a program of...
10.
Murtazina A, Nikitin S, Rudenskaya G, Sharkova I, Borovikov A, Sparber P, et al.
Genes (Basel)
. 2022 Nov;
13(11).
PMID: 36360228
GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it is the most common distal myopathy in several countries due to a founder effect of some...