User profiles for Marka van Blitterswijk

Marka van Blitterswijk

Associate Professor of Neuroscience, Mayo Clinic, USA
Verified email at mayo.edu
Cited by 9313

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

…, BFL Van Nuenen, M Van Blitterswijk… - Annals of …, 2011 - Wiley Online Library
Objective: Several studies have suggested an increased frequency of variants in the gene
encoding angiogenin (ANG) in patients with amyotrophic lateral sclerosis (ALS). Interestingly, …

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion …

M Van Blitterswijk, M DeJesus-Hernandez… - Current opinion in …, 2012 - journals.lww.com
… Gijselinck I, Van Langenhove T, van der Zee J, et al. A C9orf72 promoter repeat
expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar …

[PDF][PDF] Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

…, WL Lin, M DeJesus-Hernandez, MM Van Blitterswijk… - Neuron, 2013 - cell.com
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are devastating
neurodegenerative disorders with clinical, genetic, and neuropathological overlap. …

[HTML][HTML] Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD …

…, J Chew, DM Cosio, M Van Blitterswijk… - Acta …, 2013 - Springer
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are devastating
neurodegenerative disorders with clinical, genetic, and neuropathological overlap. A …

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

M Van Blitterswijk, MA Van Es… - Human molecular …, 2012 - academic.oup.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with a substantial
heritable component. In pedigrees affected by its familial form, incomplete penetrance is …

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

…, MC Baker, RB Perkerson, M Van Blitterswijk… - Nature …, 2015 - nature.com
Increasing evidence suggests that defective RNA processing contributes to the development
of amyotrophic lateral sclerosis (ALS). This may be especially true for ALS caused by a …

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

…, P Brown, T Ravenscroft, M van Blitterswijk… - Acta …, 2015 - Springer
Frontotemporal lobar degeneration with TAR DNA-binding protein 43 inclusions (FTLD-TDP)
is the most common pathology associated with frontotemporal dementia (FTD). Repeat …

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort …

M van Blitterswijk, M DeJesus-Hernandez… - The Lancet …, 2013 - thelancet.com
Background Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9ORF72)
are the most common known genetic cause of frontotemporal dementia (FTD) and …

Detection of long repeat expansions from PCR-free whole-genome sequence data

…, RJ Shaw, MA Bekritsky, M Van Blitterswijk… - Genome …, 2017 - genome.cshlp.org
Identifying large expansions of short tandem repeats (STRs), such as those that cause
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-…

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

…, K Talbot, F Taroni, KB Boylan, M Van Blitterswijk… - Nature …, 2016 - nature.com
To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …