List of works by Mariely DeJesus-Hernandez

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

A yeast functional screen predicts new candidate ALS disease genes

scientific article published on 7 November 2011

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

scientific article

Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations

scientific article

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

Ataxin-2 repeat-length variation and neurodegeneration

scientific article

C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository

scientific article

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

scientific article published on 11 September 2013

Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72.

scientific article published on September 2012

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

scientific article

Chromosome 9 ALS and FTD locus is probably derived from a single founder

scientific article published on 16 September 2011

Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion

scientific article published on 4 October 2012

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

scientific article published on 15 November 2011

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

scientific article published on 7 January 2012

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

scientific article published on 17 February 2012

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

scientific article

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

scientific article

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

scientific article published on 08 October 2019

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations

scientific article

Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features

scientific article

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

scientific article

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

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma

scientific 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

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

scientific article published on 15 May 2017

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

scientific article published on 26 July 2012

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

scientific article published on 25 December 2011

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

scientific article

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

scientific article

Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis ⬇️

scientific article published on November 12, 2010

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

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

scientific article published on 07 August 2013

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

scientific article published on 03 January 2014

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

scientific article published on 28 September 2012

The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndrome

scientific article published on 30 November 2012

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