MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1. (Q44686690)

5 December 2017

title

MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1. (English)

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5 December 2017

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Susanna Schraen-Maschke

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object named as

Susanna Schraen-Maschke

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Arnaud Lacour

9

object named as

Arnaud Lacour

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5 December 2017

Vincent Huin

1

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Francis Vasseur

2

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5 December 2017

Susanna Schraen-Maschke

3

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Claire-Marie Dhaenens

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Patrick Devos

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Kathy Dupont

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Nicolas Sergeant

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Luc Buée

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Hélène Hofmann-Radvanyi

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Bernard Sablonnière

11

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publication date

16 November 2012

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5 December 2017

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volume

260

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issue

4

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page(s)

998-1003

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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

5 December 2017

cites work

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Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity

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Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

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Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain

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Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1.

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21 January 2018

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Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

21 January 2018

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Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy

21 January 2018

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Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats

21 January 2018

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RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression

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(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

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Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions

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12 December 2020

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

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12 December 2020

Monte Carlo tests for associations between disease and alleles at highly polymorphic loci

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12 December 2020

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy

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12 December 2020

Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions

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12 December 2020

A 10-year study of mortality in a cohort of patients with myotonic dystrophy

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12 December 2020

99th ENMC international workshop: myotonic dystrophy: present management, future therapy. 9-11 November 2001, Naarden, The Netherlands.

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12 December 2020

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC)

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12 December 2020

A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy.

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12 December 2020

Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients

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12 December 2020

10.1007/S00415-012-6740-Y

Identifiers

DOI

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5 December 2017

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