Marek Napierala
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Explore the profile of Marek Napierala including associated specialties, affiliations and a list of published articles.
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78
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1482
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Recent Articles
1.
Mukherjee S, Pereboeva L, Fil D, Saikia A, Lee J, Li J, et al.
Mol Ther Methods Clin Dev
. 2025 Jan;
32(4):101347.
PMID: 39823061
Friedreich's ataxia (FRDA) is a multisystem, autosomal recessive disorder caused by mutations in the frataxin () gene. As FRDA is considered an FXN deficiency disorder, numerous therapeutic approaches in development...
2.
Gerhart B, Pellerin D, Danzi M, Zuchner S, Brais B, Matos-Rodrigues G, et al.
Neurol Genet
. 2024 Nov;
10(6):e200210.
PMID: 39574782
Background And Objectives: The number of GAA repeats in the gene is a major but not sole determinant of the clinical presentation of Friedreich ataxia (FRDA). The objective of this...
3.
Pellerin D, Mereaux J, Boluda S, Danzi M, Dicaire M, Davoine C, et al.
Brain
. 2024 Oct;
PMID: 39378335
Spinocerebellar ataxia 27B (SCA27B) is a common autosomal dominant ataxia caused by an intronic GAA•TTC repeat expansion in FGF14. Neuropathological studies have shown that neuronal loss is largely restricted to...
4.
Pellerin D, Mereaux J, Boluda S, Danzi M, Dicaire M, Davoine C, et al.
medRxiv
. 2024 Jul;
PMID: 39006414
Spinocerebellar ataxia 27B (SCA27B) is a common autosomal dominant ataxia caused by an intronic GAA•TTC repeat expansion in . Neuropathological studies have shown that neuronal loss is largely restricted to...
5.
Pellerin D, Del Gobbo G, Couse M, Dolzhenko E, Nageshwaran S, Cheung W, et al.
Nat Genet
. 2024 Jun;
56(7):1366-1370.
PMID: 38937606
The factors driving or preventing pathological expansion of tandem repeats remain largely unknown. Here, we assessed the FGF14 (GAA)·(TTC) repeat locus in 2,530 individuals by long-read and Sanger sequencing and...
6.
Miellet S, Maddock M, Napierala J, Napierala M, Dottori M
Stem Cell Res
. 2024 Jun;
79:103477.
PMID: 38936158
Friedreich's ataxia (FRDA) is a rare neurodegenerative disease caused by an expansion of a GAA repeat sequence within the Frataxin (FXN) gene. Prominent regions of neurodegeneration include sensory neurons within...
7.
Sayles N, Napierala J, Anrather J, Diedhiou N, Li J, Napierala M, et al.
Dis Model Mech
. 2024 Jan;
17(1).
PMID: 38214340
No abstract available.
8.
Sayles N, Napierala J, Anrather J, Diedhiou N, Li J, Napierala M, et al.
Dis Model Mech
. 2023 Sep;
16(10).
PMID: 37691621
Cardiomyopathy is often fatal in Friedreich ataxia (FA). However, FA hearts maintain adequate function until advanced disease stages, suggesting initial adaptation to the loss of frataxin (FXN). Conditional cardiac knockout...
9.
Fil D, Conley R, Zuberi A, Lutz C, Gemelli T, Napierala M, et al.
Neurobiol Dis
. 2023 Jan;
177:105996.
PMID: 36638893
Friedreich's ataxia (FRDA) is a neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin (FXN). Most FRDA patients are homozygous for large expansions of GAA repeats in intron...
10.
Markiewicz K, Szostkiewicz L, Kaczorowski J, Yang Z, Dominguez-Lopez A, Napierala M, et al.
Opt Express
. 2022 Oct;
30(10):17164-17173.
PMID: 36221545
The possibility to perform distributed measurements of the effective refractive index difference between distinct modes in few mode optical fibers is demonstrated using phase sensitive optical time domain reflectometry. Effective...