Niccolo E Mencacci
Overview
Explore the profile of Niccolo E Mencacci including associated specialties, affiliations and a list of published articles.
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78
Citations
1677
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Recent Articles
1.
Lange L, Levine K, Fox S, Marras C, Ahmed N, Kuznetsov N, et al.
Res Sq
. 2024 Oct;
PMID: 39372927
Pathogenic variants in the gene represent the most common cause of autosomal dominant Parkinson's disease (PD) worldwide. We identified the p.L1795F variant in 14 White/European ancestry PD patients, including two...
2.
Junker J, Lange L, Vollstedt E, Roopnarain K, Doquenia M, Ahmad Annuar A, et al.
Mov Disord
. 2024 Jul;
39(10):1868-1873.
PMID: 39076159
Background: Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at a global scale. Objective:...
3.
Cook L, Verbrugge J, Schwantes-An T, Schulze J, Foroud T, Hall A, et al.
Brain
. 2024 Jul;
147(8):2668-2679.
PMID: 39074992
Variants in seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7 and VPS35) have been formally adjudicated as causal contributors to Parkinson's disease; however, individuals with Parkinson's disease are often unaware...
4.
Keller Sarmiento I, Bustos B, Blackburn J, Hac N, Ruzhnikov M, Monroe M, et al.
Mov Disord
. 2024 Apr;
39(7):1231-1236.
PMID: 38576116
Background: FRMD5 variants were recently identified in patients with developmental delay, ataxia, and eye movement abnormalities. Objectives: We describe 2 patients presenting with childhood-onset ataxia, nystagmus, and seizures carrying pathogenic...
5.
Junker J, Lange L, Vollstedt E, Roopnarain K, Doquenia M, Ahmad Annuar A, et al.
medRxiv
. 2024 Mar;
PMID: 38529492
Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at global scale. The first systematic...
6.
Monje M, Blackburn J, Kinsley L, Krainc D, Mencacci N
Mov Disord
. 2024 Feb;
39(5):918-920.
PMID: 38419191
No abstract available.
7.
Danti F, Sarmiento I, Moloney P, Colangelo I, Graziola F, Garavaglia B, et al.
Mov Disord
. 2024 Feb;
39(4):747-749.
PMID: 38380600
No abstract available.
8.
The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list
Brooker S, Mencacci N
Parkinsonism Relat Disord
. 2023 Nov;
117:105929.
PMID: 37981540
No abstract available.
9.
Indelicato E, Boesch S, Mencacci N, Ghezzi D, Prokisch H, Winkelmann J, et al.
Mov Disord
. 2023 Nov;
39(1):29-35.
PMID: 37964479
No abstract available.
10.
Song P, Peng W, Sauve V, Fakih R, Xie Z, Ysselstein D, et al.
Neuron
. 2023 Sep;
111(23):3775-3788.e7.
PMID: 37716354
Parkin-mediated mitophagy has been studied extensively, but whether mutations in parkin contribute to Parkinson's disease pathogenesis through alternative mechanisms remains unexplored. Using patient-derived dopaminergic neurons, we found that phosphorylation of...