Lista de obras - Marka van Blitterswijk - Dominio Público Uruguay

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

artículo científico publicado en 2017

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

artículo científico

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

artículo científico publicado en 2014

Bromodomain inhibitors regulate the C9ORF72 locus in ALS

artículo científico publicado en 2015

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2021

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

artículo científico publicado en 2012

Excess of Rare Damaging TUBA4A Variants Suggests Cytoskeletal Defects in ALS

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Genetic overlap between apparently sporadic motor neuron diseases

artículo científico publicado en 2012

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

artículo científico publicado en 2020

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

artículo científico publicado en 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?

artículo científico

Identical twins with the C9orf72 repeat expansion are discordant for ALS

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Jump from pre-mutation to pathologic expansion in C9orf72.

artículo científico publicado en 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

artículo científico publicado en 2013

Mutational analysis of TARDBP in Parkinson's disease

artículo científico publicado en 2012

Mutational analysis of TARDBP in neurodegenerative diseases

artículo científico publicado en 2009

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2016

Neurodegenerative disease: C9orf72 repeats compromise nucleocytoplasmic transport.

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

artículo científico publicado en 2011

Paraoxonase gene mutations in amyotrophic lateral sclerosis

artículo científico publicado en 2010

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

artículo científico

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis

artículo científico publicado en 2022

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

artículo científico publicado en 2016

TDP-43 plasma levels are higher in amyotrophic lateral sclerosis

artículo científico publicado en 2012

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

scientific article published on 03 January 2014

TYROBP genetic variants in early-onset Alzheimer's disease

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands.

artículo científico publicado en 2012

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

artículo científico publicado en 2013

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

artículo científico publicado en 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

artículo científico publicado en 2015

Lista de obras de 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