Nicholas D Mazarakis
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Explore the profile of Nicholas D Mazarakis including associated specialties, affiliations and a list of published articles.
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47
Citations
1726
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Recent Articles
1.
James Bates R, Browne E, Schalks R, Jacobs H, Tan L, Parekh P, et al.
Brain
. 2022 Jul;
145(12):4287-4307.
PMID: 35776111
Organized meningeal immune cell infiltrates are suggested to play an important role in cortical grey matter pathology in the multiple sclerosis brain, but the mechanisms involved are as yet unresolved....
2.
Frasca A, Pavlidou E, Bizzotto M, Gao Y, Balestra D, Pinotti M, et al.
Neurol Genet
. 2022 Mar;
8(2):e666.
PMID: 35280940
Background And Objectives: CDKL5 deficiency disorder (CDD) is a neurodevelopmental encephalopathy characterized by early-onset epilepsy and impaired psychomotor development. Variations in the X-linked gene coding for a kinase cause CDD....
3.
van Olst L, Rodriguez-Mogeda C, Picon C, Kiljan S, James R, Kamermans A, et al.
Acta Neuropathol
. 2021 Mar;
141(6):881-899.
PMID: 33779783
Meningeal inflammation strongly associates with demyelination and neuronal loss in the underlying cortex of progressive MS patients, thereby contributing significantly to clinical disability. However, the pathological mechanisms of meningeal inflammation-induced...
4.
Pickering C, Mazarakis N
Curr Gene Ther
. 2021 Feb;
21(3):191-206.
PMID: 33573551
Designer Receptors Exclusively Activated by Designer Drugs (DREADDs) are genetically modified G-protein-coupled receptors (GPCRs), that can be activated by a synthetic ligand which is otherwise inert at endogenous receptors. DREADDs...
5.
Picon C, Jayaraman A, James R, Beck C, Gallego P, Witte M, et al.
Acta Neuropathol
. 2021 Feb;
141(4):585-604.
PMID: 33569629
Sustained exposure to pro-inflammatory cytokines in the leptomeninges is thought to play a major role in the pathogenetic mechanisms leading to cortical pathology in multiple sclerosis (MS). Although the molecular...
6.
Gallego-Delgado P, James R, Browne E, Meng J, Umashankar S, Tan L, et al.
PLoS Biol
. 2020 Dec;
18(12):e3001008.
PMID: 33315860
Changes to the structure of nodes of Ranvier in the normal-appearing white matter (NAWM) of multiple sclerosis (MS) brains are associated with chronic inflammation. We show that the paranodal domains...
7.
La Montanara P, Hervera A, Baltussen L, Hutson T, Palmisano I, De Virgiliis F, et al.
Sci Transl Med
. 2020 Jul;
12(551).
PMID: 32641489
Cyclin-dependent-like kinase 5 () gene mutations lead to an X-linked disorder that is characterized by infantile epileptic encephalopathy, developmental delay, and hypotonia. However, we found that a substantial percentage of...
8.
James R, Schalks R, Browne E, Eleftheriadou I, Munoz C, Mazarakis N, et al.
Acta Neuropathol Commun
. 2020 May;
8(1):66.
PMID: 32398070
Analysis of isolated meninges and cerebrospinal fluid (CSF) of post-mortem MS cases has shown increased gene and protein expression for the pro-inflammatory cytokines: tumour necrosis factor (TNF) and interferon-γ (IFNγ)....
9.
Gao Y, Irvine E, Eleftheriadou I, Jimenez Naranjo C, Hearn-Yeates F, Bosch L, et al.
Brain
. 2020 Mar;
143(3):811-832.
PMID: 32125365
Cyclin-dependent kinase-like 5 disorder is a severe neurodevelopmental disorder caused by mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene. It predominantly affects females who typically present with severe early...
10.
Benger M, Mankad K, Proukakis C, Mazarakis N, Kinali M
Front Neurol
. 2019 Jun;
10:555.
PMID: 31191442
Mutations in the gene have been implicated in the pathogenesis of early-onset Parkinson's disease. We present a case of movement disorder in a 4-year-old child from consanguineous parents and with...