List of works - Marka van Blitterswijk

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

scientific article

ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family

scientific article

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

scientific article

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

Anti-superoxide dismutase antibodies are associated with survival in patients with sporadic amyotrophic lateral sclerosis

scientific article

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

scientific article published on 16 October 2013

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

scientific article published on 05 September 2013

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

scientific article published on 2 May 2014

Bromodomain inhibitors regulate the C9ORF72 locus in ALS

scientific article published on 19 June 2015

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

scientific article published on 11 September 2013

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells

scientific article published on 30 December 2015

C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

scientific article published on 09 April 2021

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

scientific article

Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq

scientific article

Clinical variability and additional mutations in amyotrophic lateral sclerosis patients with p.N352S mutations inTARDBP

scientific article published on 01 April 2014

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

scientific article

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.

scientific article published on 20 July 2015

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

scientific article published on 30 January 2020

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

scientific article

Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS

scientific article published on 22 October 2014

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.

scientific article published on 11 May 2011

Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia

scientific article

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

scientific article published on 08 October 2019

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

scientific article

Genetic overlap between apparently sporadic motor neuron diseases

scientific article

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases

scientific article published on 01 January 2020

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

scientific article published in March 2018

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

scientific article published on 09 February 2019

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases

article

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

scientific article published on December 2012

Identical twins with the C9orf72 repeat expansion are discordant for ALS

scientific article

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

scientific article published on 15 May 2017

Jump from pre-mutation to pathologic expansion in C9orf72.

scientific article published on 21 May 2015

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease

scholarly article by Mark T W Ebbert published in August 2018

Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations

scientific article published on 25 August 2019

Motor neuron disease in 2012: Novel causal genes and disease modifiers

scientific article published on 15 January 2013

Mutational analysis of TARDBP in Parkinson's disease

scientific article

Mutational analysis of TARDBP in neurodegenerative diseases

scientific article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Neurodegenerative disease: C9orf72 repeats compromise nucleocytoplasmic transport.

scientific article published on 3 November 2015

Neuroprotective effect of oligodendrocyte precursor cell transplantation in a long-term model of periventricular leukomalacia

scientific article published on 22 October 2009

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

scientific article

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

scientific article published on 28 July 2011

Paraoxonase gene mutations in amyotrophic lateral sclerosis

scientific article

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

scientific article published on March 2017

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

scientific article

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 02 May 2013

Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.

scientific article published on 07 August 2013

Prosaposin is a regulator of progranulin levels and oligomerization

scientific article published on 30 June 2016

RNA processing pathways in amyotrophic lateral sclerosis

scientific article published on 27 March 2010

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

article

Repeat expansions in myoclonic epilepsy

scientific article published on 01 April 2018

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

scientific article published on 16 June 2017

Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis

scientific article published on 12 January 2022

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

scientific article

TDP-43 plasma levels are higher in amyotrophic lateral sclerosis

scientific article

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

scientific article published on 03 January 2014

TYROBP genetic variants in early-onset Alzheimer's disease

scientific article published on 8 August 2016

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

scientific article published on 01 October 2020

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

scientific article published on 13 August 2020

UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands.

scientific article published on 5 June 2012

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

scientific article

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

scientific article published on 09 August 2012

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

scientific article published on 10 November 2011

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

scientific article published on 6 May 2015

List of works by Marka van Blitterswijk

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

Anti-superoxide dismutase antibodies are associated with survival in patients with sporadic amyotrophic lateral sclerosis

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

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

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

Bromodomain inhibitors regulate the C9ORF72 locus in ALS

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells

C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq

Clinical variability and additional mutations in amyotrophic lateral sclerosis patients with p.N352S mutations inTARDBP

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

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.

Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

Genetic overlap between apparently sporadic motor neuron diseases

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases

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

Identical twins with the C9orf72 repeat expansion are discordant for ALS

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

Jump from pre-mutation to pathologic expansion in C9orf72.

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease

Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations

Motor neuron disease in 2012: Novel causal genes and disease modifiers

Mutational analysis of TARDBP in Parkinson's disease

Mutational analysis of TARDBP in neurodegenerative diseases

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Neurodegenerative disease: C9orf72 repeats compromise nucleocytoplasmic transport.

Neuroprotective effect of oligodendrocyte precursor cell transplantation in a long-term model of periventricular leukomalacia

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

Paraoxonase gene mutations in amyotrophic lateral sclerosis

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia

Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.

Prosaposin is a regulator of progranulin levels and oligomerization

RNA processing pathways in amyotrophic lateral sclerosis

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

Repeat expansions in myoclonic epilepsy

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

TDP-43 plasma levels are higher in amyotrophic lateral sclerosis

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

TYROBP genetic variants in early-onset Alzheimer's disease

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands.

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

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

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