User profiles for Marka van Blitterswijk
Marka van BlitterswijkAssociate 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, …
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 …
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. …
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 …
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 …
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 …
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 …
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 …
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-…
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-…
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
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 …
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …