Stefano Goldwurm
Overview
Explore the profile of Stefano Goldwurm including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
92
Citations
3419
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Oleksy C, Massart F, Goldwurm S, Arado A, Arena G, Boussaad I, et al.
Stem Cell Res
. 2023 Oct;
72:103212.
PMID: 37832355
We describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a Parkinson's disease (PD) patient carrying the p.G2019S mutation in the LRRK2 gene and...
2.
Tiloca C, Goldwurm S, Calcagno N, Verde F, Peverelli S, Calini D, et al.
Front Aging Neurosci
. 2022 Oct;
14:1020948.
PMID: 36247987
Background: Aggregates of TAR DNA-binding protein of 43 kDa (TDP-43) represent the pathological hallmark of most amyotrophic lateral sclerosis (ALS) and of nearly 50% of frontotemporal dementia (FTD) cases but...
3.
Monfrini E, Spagnolo F, Canesi M, Seresini A, Rini A, Passarella B, et al.
Parkinsonism Relat Disord
. 2021 Dec;
94:37-39.
PMID: 34875562
VPS13C is a protein-coding gene involved in the regulation of mitochondrial function through the endolysosomal pathway in neurons. Homozygous and compound heterozygous VPS13C mutations are etiologically associated with early-onset Parkinson's...
4.
Lai D, Alipanahi B, Fontanillas P, Schwantes-An T, Aasly J, Alcalay R, et al.
Ann Neurol
. 2021 May;
90(1):76-88.
PMID: 33938021
Objective: The aim of this study was to search for genes/variants that modify the effect of LRRK2 mutations in terms of penetrance and age-at-onset of Parkinson's disease. Methods: We performed...
5.
Russ K, Teku G, Bousset L, Redeker V, Piel S, Savchenko E, et al.
Cell Rep
. 2021 Mar;
34(12):108895.
PMID: 33761362
Here, we examine the cellular changes triggered by tumor necrosis factor alpha (TNF-α) and different alpha-synuclein (αSYN) species in astrocytes derived from induced pluripotent stem cells. Human astrocytes treated with...
6.
Balestrino R, Tunesi S, Tesei S, Lopiano L, Zecchinelli A, Goldwurm S
Mov Disord
. 2020 Aug;
35(11):2111-2114.
PMID: 32767585
Background: Homozygous glucocerebrosidase mutations cause Gaucher disease, whereas heterozygous mutations are the most important genetic risk factor for Parkinson's disease (PD). The penetrance of heterozygous glucocerebrosidase mutations for PD is...
7.
San Luciano M, Tanner C, Meng C, Marras C, Goldman S, Lang A, et al.
Mov Disord
. 2020 Jul;
35(10):1755-1764.
PMID: 32662532
Background: The penetrance of leucine rich repeat kinase 2 (LRRK2) mutations is incomplete and may be influenced by environmental and/or other genetic factors. Nonsteroidal anti-inflammatory drugs (NSAIDs) are known to...
8.
Azevedo C, Chumarina M, Serafimova E, Goldwurm S, Collin A, Roybon L, et al.
Stem Cell Res
. 2020 Jan;
43:101694.
PMID: 31954327
Here, we describe the generation of an induced pluripotent stem cell (iPSC) line, from a male patient diagnosed with Parkinson's disease (PD). The patient carries a heterozygous variation p.A53T in...
9.
Bertuzzi M, Tang D, Calligaris R, Vlachouli C, Finaurini S, Sanges R, et al.
Hum Mutat
. 2020 Jan;
41(4):807-824.
PMID: 31898848
Minisatellites, also called variable number of tandem repeats (VNTRs), are a class of repetitive elements that may affect gene expression at multiple levels and have been correlated to disease. Their...
10.
Chumarina M, Russ K, Azevedo C, Heuer A, Pihl M, Collin A, et al.
Acta Neuropathol Commun
. 2019 Dec;
7(1):208.
PMID: 31843010
Variations in the POLG1 gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma, have recently been associated with Parkinson's disease (PD), especially in patients diagnosed with progressive external...