Marianna Bugiani
Overview
Explore the profile of Marianna Bugiani including associated specialties, affiliations and a list of published articles.
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139
Citations
2990
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Recent Articles
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2.
van der Knaap M, Bugiani M, Abbink T
Handb Clin Neurol
. 2024 Sep;
204:77-94.
PMID: 39322396
"Vanishing white matter" (VWM) is a leukodystrophy caused by autosomal recessive pathogenic variants in the genes encoding the subunits of eukaryotic initiation factor 2B (eIF2B). Disease onset and disease course...
3.
Sol N, Kooi E, Pages-Gallego M, Brandsma D, Bugiani M, de Ridder J, et al.
Acta Neuropathol
. 2024 Sep;
148(1):35.
PMID: 39225924
No abstract available.
4.
Metselaar D, Meel M, Goulding J, du Chatinier A, Rigamonti L, Waranecki P, et al.
Cell Rep Med
. 2024 Aug;
5(9):101700.
PMID: 39208799
Atypical teratoid/rhabdoid tumors (ATRTs) are highly malignant embryonal tumors of the central nervous system with a dismal prognosis. Using a newly developed and validated patient-derived ATRT culture and xenograft model,...
5.
Verdonk S, Storoni S, Zhytnik L, Micha D, van den Aardweg J, Kamp O, et al.
Pediatr Dev Pathol
. 2024 Aug;
28(1):24-30.
PMID: 39189102
Introduction: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility. While skeletal manifestations are well documented, few studies have explored the effect of OI on the fetal...
6.
Dimartino P, Zadorozhna M, Yumiceba V, Basile A, Cani I, Melo U, et al.
Ann Neurol
. 2024 Jul;
96(5):855-870.
PMID: 39078102
Objective: We aimed to elucidate the pathogenic mechanisms underlying autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), and to understand the genotype/phenotype correlation of structural variants (SVs) in the LMNB1 locus. Background:...
7.
Meijs T, Heidendael J, Schurink B, Bugiani M, van Boven W, Boekholdt S, et al.
Circ Cardiovasc Imaging
. 2024 Jul;
17(11):e016847.
PMID: 39005216
No abstract available.
8.
Plug B, Revers I, Breur M, Gonzalez G, Timmerman J, Meijns N, et al.
Acta Neuropathol Commun
. 2024 Jun;
12(1):83.
PMID: 38822428
Human brain experimental models recapitulating age- and disease-related characteristics are lacking. There is urgent need for human-specific tools that model the complex molecular and cellular interplay between different cell types...
9.
Man J, Zarekiani P, Mosen P, de Kok M, Debets D, Breur M, et al.
Cell Mol Life Sci
. 2024 May;
81(1):234.
PMID: 38789799
Vanishing white matter (VWM) is a leukodystrophy caused by biallelic pathogenic variants in eukaryotic translation initiation factor 2B. To date, it remains unclear which factors contribute to VWM pathogenesis. Here,...
10.
Man J, Breur M, van Gelder C, Marcon G, Maderna E, Giaccone G, et al.
Neurobiol Aging
. 2024 May;
140:102-115.
PMID: 38763075
Astrocyte heterogeneity and its relation to aging in the normal human brain remain poorly understood. We here analyzed astrocytes in gray and white matter brain tissues obtained from donors ranging...