Marka van Blitterswijk
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Explore the profile of Marka van Blitterswijk including associated specialties, affiliations and a list of published articles.
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Recent Articles
1.
Mizielinska S, Hautbergue G, Gendron T, van Blitterswijk M, Hardiman O, Ravits J, et al.
Lancet Neurol
. 2025 Feb;
24(3):261-274.
PMID: 39986312
GGGGCC repeat expansions in C9orf72 are a common genetic cause of amyotrophic lateral sclerosis in people of European ancestry; however, substantial variability in the penetrance of the mutation, age at...
2.
Udine E, Finch N, DeJesus-Hernandez M, Jackson J, Baker M, Saravanaperumal S, et al.
Mol Neurodegener
. 2024 Dec;
19(1):99.
PMID: 39709476
Background: The gene C9orf72 harbors a non-coding hexanucleotide repeat expansion known to cause amyotrophic lateral sclerosis and frontotemporal dementia. While previous studies have estimated the length of this repeat expansion...
3.
Murakami A, Koga S, Fujioka S, White A, Bieniek K, Sekiya H, et al.
Brain Pathol
. 2024 Jul;
35(1):e13286.
PMID: 38988008
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by upper and lower motor neuron signs. There are, however, cases where upper motor neurons (UMNs) are predominantly affected, leading to...
4.
Pottier C, Kucukali F, Baker M, Batzler A, Jenkins G, van Blitterswijk M, et al.
medRxiv
. 2024 Jul;
PMID: 38978643
Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) is a fatal neurodegenerative disorder with only a limited number of risk loci identified. We report our...
5.
Udine E, DeJesus-Hernandez M, Tian S, das Neves S, Crook R, Finch N, et al.
Acta Neuropathol
. 2024 Apr;
147(1):73.
PMID: 38641715
The most prominent genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) is a repeat expansion in the gene C9orf72. Importantly, the transcriptomic consequences of the...
6.
Milioto C, Carcole M, Giblin A, Coneys R, Attrebi O, Ahmed M, et al.
Nat Neurosci
. 2024 Feb;
27(4):643-655.
PMID: 38424324
Dipeptide repeat proteins are a major pathogenic feature of C9orf72 amyotrophic lateral sclerosis (C9ALS)/frontotemporal dementia (FTD) pathology, but their physiological impact has yet to be fully determined. Here we generated...
7.
Jain A, Udine E, van Blitterswijk M
Brain
. 2023 Oct;
146(11):4405-4407.
PMID: 37791588
No abstract available.
8.
Monnakgotla N, Mahungu A, Heckmann J, Botha G, Mulder N, Wu G, et al.
Neurol Genet
. 2023 Jun;
9(4):e200077.
PMID: 37346932
Background And Objectives: Amyotrophic lateral sclerosis (ALS) is a degenerative condition of the brain and spinal cord in which protein-coding variants in known ALS disease genes explain a minority of...
9.
Dilliott A, Al Nasser A, Elnagheeb M, Fifita J, Henden L, Keseler I, et al.
Amyotroph Lateral Scler Frontotemporal Degener
. 2023 Mar;
24(5-6):420-435.
PMID: 36896705
: In 2021, the Clinical Genome Resource (ClinGen) amyotrophic lateral sclerosis (ALS) spectrum disorders Gene Curation Expert Panel (GCEP) was established to evaluate the strength of evidence for genes previously...
10.
Udine E, Jain A, van Blitterswijk M
Mol Neurodegener
. 2023 Jan;
18(1):4.
PMID: 36635726
Amyotrophic lateral sclerosis (ALS) is caused by upper and lower motor neuron loss and has a fairly rapid disease progression, leading to fatality in an average of 2-5 years after...