Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism

S Tomé, E Dandelot, C Dogan, A Bertrand… - Human …, 2018 - Wiley Online Library
Abstract Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder associated
with high variability of symptoms and anticipation. DM1 is caused by an unstable CTG …

Identification of a CCG-enriched expanded allele in patients with myotonic dystrophy type 1 using amplification-free long-read sequencing

YC Tsai, L de Pontual, C Heiner, T Stojkovic… - The Journal of Molecular …, 2022 - Elsevier
Myotonic dystrophy type 1 (DM1) exhibits highly heterogeneous clinical manifestations
caused by an unstable CTG repeat expansion reaching up to 4000 CTG. The clinical …

Transcriptome analysis reveals altered inflammatory pathway in an inducible glial cell model of myotonic dystrophy type 1

CN Azotla-Vilchis, D Sanchez-Celis… - Biomolecules, 2021 - mdpi.com
Myotonic dystrophy type 1 (DM1), the most frequent inherited muscular dystrophy in adults,
is caused by the CTG repeat expansion in the 3′ UTR of the DMPK gene. Mutant DMPK …

The flash-small-pool PCR: how to transform blotting and numerous hybridization steps into a simple denatured PCR

E Dandelot, G Gourdon - Biotechniques, 2018 - Taylor & Francis
Numerous human diseases are associated with abnormal expansion of unstable
trinucleotide repeats (TNRs). TNR instability mechanisms are complex, and remain only …

Experimenting with trinucleotide repeats: Facts and technical issues

GF Richard - Trinucleotide Repeats: Methods and Protocols, 2020 - Springer
Trinucleotide repeats are a peculiar class of microsatellites involved in many neurological as
well as developmental disorders. Their propensity to generate very large expansions over …

OxDNA to study species interactions

F Mambretti, N Pedrani, L Casiraghi, EM Paraboschi… - Entropy, 2022 - mdpi.com
Molecular ecology uses molecular genetic data to answer traditional ecological questions in
biogeography and biodiversity, among others. Several ecological principles, such as the …

Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1

AA Franco‐Guerrero, LC Márquez‐Quiroz… - Muscle & …, 2019 - Wiley Online Library
Introduction Myotonic dystrophy type 1 (DM1) is a multisystemic disorder characterized
mainly by skeletal muscle alterations. Although oropharyngeal dysphagia is a prominent …

[PDF][PDF] Diagnóstico molecular de enfermedades neuromusculares en el Instituto Nacional de Rehabilitación, situación actual y perspectivas

AB Luna-Angulo, R Suárez-Sánchez… - Investigación en …, 2016 - academia.edu
En México cerca de seis millones de personas presentan algún tipo de discapacidad,
siendo las enfermedades neuromusculares (ENM) una de las causas más frecuentes de …

[PDF][PDF] Nicht-radioaktiver Nachweis von CTG-Repeats in Muskelgewebe von Patienten mit myotoner Dystrophie Typ 1

R Mensel - 2022 - edoc.ub.uni-muenchen.de
Die hier vorliegende Promotionsarbeit hatte die Etablierung einer nicht-radioaktiven
Methodik zur quantitativen Bestimmung von CTG-Repeats in Muskelgewebe von Patienten …

[PDF][PDF] Identificación de biomarcadores en etapas iniciales de la distrofia miotónica tipo 1 (DM1)

LC Márquez Quiroz - 2018 - repositorio.cinvestav.mx
La distrofia miotónica tipo 1 (DM1) es la distrofia más común en adultos. La enfermedad es
causada por alelos que sobrepasan un umbral de aproximadamente 50 repetidos y que …