Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy

Antisense transcription of the myotonic dystrophy locus yields low-abundant RNAs with and without (CAG)n repeat

(2017) Anke E. E. G. Gudde et al.   RNA Biology

A low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle

(2016) Anke E. E. G. Gudde et al.   HUMAN MOLECULAR GENETICS

Mechanistic determinants of MBNL activity

(2016) Łukasz J. Sznajder et al.   NUCLEIC ACIDS RESEARCH

MTTE: an innovative strategy for the evaluation of targeted/exome enrichment efficiency

(2016) Katarzyna Klonowska et al.   Oncotarget

Actinomycin D Specifically Reduces Expanded CUG Repeat RNA in Myotonic Dystrophy Models

(2015) Ruth B. Siboni et al.   Cell Reports

MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain

(2015) Marianne Goodwin et al.   Cell Reports

An MLPA-based approach for high-resolution genotyping of disease-related multi-allelic CNVs

(2014) Malgorzata Marcinkowska-Swojak et al.   GENE

Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease

(2014) Ranjan Batra et al.   MOLECULAR CELL

RAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disorders

(2014) Marzena Wojciechowska et al.   NUCLEIC ACIDS RESEARCH

Genome Wide Identification of Aberrant Alternative Splicing Events in Myotonic Dystrophy Type 2

(2014) Alessandra Perfetti et al.   PLoS One

Small molecule kinase inhibitors alleviate different molecular features of myotonic dystrophy type 1

(2014) Marzena Wojciechowska et al.   RNA Biology

Splicing biomarkers of disease severity in myotonic dystrophy

(2013) Masayuki Nakamori et al.   ANNALS OF NEUROLOGY

The Digital MIQE Guidelines: Minimum Information for Publication of Quantitative Digital PCR Experiments

(2013) J. F. Huggett et al.   CLINICAL CHEMISTRY

Digital PCR as a Novel Technology and Its Potential Implications for Molecular Diagnostics

(2013) J. F. Huggett et al.   CLINICAL CHEMISTRY

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines

(2013) Ami Ketley et al.   HUMAN MOLECULAR GENETICS

An MLPA-Based Strategy for Discrete CNV Genotyping: CNV-miRNAs as an Example

(2013) Malgorzata Marcinkowska-Swojak et al.   HUMAN MUTATION

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

(2011) Benjamin J. Hindson et al.   ANALYTICAL CHEMISTRY

Cellular toxicity of expanded RNA repeats: focus on RNA foci

(2011) Marzena Wojciechowska et al.   HUMAN MOLECULAR GENETICS

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

Digital PCR provides sensitive and absolute calibration for high throughput sequencing

(2009) Richard A White et al.   BMC GENOMICS