Barry A Pepers
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Explore the profile of Barry A Pepers including associated specialties, affiliations and a list of published articles.
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21
Citations
292
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Recent Articles
1.
Buijsen R, van der Graaf L, Kuijper E, Pepers B, Daoutsali E, Weel L, et al.
Biomedicines
. 2024 Sep;
12(9).
PMID: 39335447
Antisense technology demonstrates significant potential for addressing inherited brain diseases, with over a dozen products already available and numerous others in the development pipeline. The versatility of differentiating induced pluripotent...
2.
Bouwman L, Joosen M, Buijsen R, van der Graaf L, Pepers B, Voesenek B, et al.
Stem Cell Res
. 2024 Jun;
78:103462.
PMID: 38851031
Spinocerebellar Ataxia Type 7 (SCA7) is an autosomal dominantly inherited disorder, primarily characterized by cerebellar ataxia and visual loss. SCA7 is caused by a CAG repeat expansion in exon 3...
3.
Buijsen R, Hu M, Saez-Gonzalez M, Notopoulou S, Mina E, Koning W, et al.
Mov Disord
. 2023 Jun;
38(8):1428-1442.
PMID: 37278528
Background: Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by a polyglutamine expansion in the ataxin-1 protein resulting in neuropathology including mutant ataxin-1 protein aggregation, aberrant neurodevelopment, and...
4.
Daoutsali E, Pepers B, Stamatakis S, van der Graaf L, Terwindt G, Parfitt D, et al.
Front Aging Neurosci
. 2023 Feb;
14:1048584.
PMID: 36733499
Introduction: ADutch-type cerebral amyloid angiopathy (D-CAA) is a hereditary brain disorder caused by a point mutation in the amyloid precursor protein (APP) gene. The mutation is located within the amyloid...
5.
Daoutsali E, Hailu T, Buijsen R, Pepers B, van der Graaf L, Verbeek M, et al.
Nucleic Acid Ther
. 2021 Jun;
31(5):351-363.
PMID: 34061681
Dutch-type cerebral amyloid angiopathy (D-CAA) is a monogenic form of cerebral amyloid angiopathy and is inherited in an autosomal dominant manner. The disease is caused by a point mutation in...
6.
Fulgencio-Covian A, Alvarez M, Pepers B, Lopez-Marquez A, Ugarte M, Perez B, et al.
Stem Cell Res
. 2020 Oct;
49:102055.
PMID: 33128956
Propionic acidemia (PA) is an inherited metabolic disease caused by mutations in the PCCA and PCCB genes. We have previously generated an induced pluripotent stem cell (iPSC) line (UAMi004-A) from...
7.
van der Graaf L, Gardiner S, Tok M, Brands T, Boogaard M, Pepers B, et al.
Stem Cell Res
. 2019 Jul;
39:101498.
PMID: 31326748
Huntington disease (HD) is an autosomal dominant, neurodegenerative disease caused by a CAG repeat expansion within the coding sequence of the HTT gene, resulting in a highly toxic protein with...
8.
Daoutsali E, Buijsen R, van de Pas S, Jong A, Mikkers H, Brands T, et al.
Stem Cell Res
. 2019 Jan;
34:101359.
PMID: 30611017
Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type (HCHWA-D) is an autosomal dominant hereditary disease caused by a point mutation in exon 17 of the APP gene. We generated human induced pluripotent...
9.
Buijsen R, Gardiner S, Bouma M, van der Graaf L, Boogaard M, Pepers B, et al.
Stem Cell Res
. 2018 Apr;
29:125-128.
PMID: 29656178
Spinocerebellar ataxia type 1 (SCA1) is a hereditary neurodegenerative disease caused by a CAG repeat expansion in exon 8 of the ATXN1 gene. We generated induced pluripotent stem cells (hiPSCs)...
10.
Schut M, Patassini S, Kim E, Bullock J, Waldvogel H, Faull R, et al.
PLoS One
. 2017 Jun;
12(6):e0178556.
PMID: 28570578
Huntington disease is associated with elongation of a CAG repeat in the HTT gene that results in a mutant huntingtin protein. Several studies have implicated N-terminal huntingtin protein fragments in...