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1.
Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.
Hum Mutat
; 39(7): 970-982, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29664219
2.
Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus.
PLoS Genet
; 8(11): e1003043, 2012.
Article
in English
| MEDLINE | ID: mdl-23209425
3.
Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.
Brain
; 136(Pt 3): 957-70, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23404338
4.
The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.
Orphanet J Rare Dis
; 14(1): 122, 2019 06 03.
Article
in English
| MEDLINE | ID: mdl-31159885
5.
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Orphanet J Rare Dis
; 14(1): 199, 2019 Aug 15.
Article
in English
| MEDLINE | ID: mdl-31416449
6.
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Neurology
; 92(8): e852-e865, 2019 02 19.
Article
in English
| MEDLINE | ID: mdl-30659139
7.
DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic mice.
Biochim Biophys Acta
; 1772(11-12): 1183-91, 2007 Dec.
Article
in English
| MEDLINE | ID: mdl-17950578
8.
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Orphanet J Rare Dis
; 13(1): 155, 2018 09 05.
Article
in English
| MEDLINE | ID: mdl-30185236
9.
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.
PLoS One
; 11(2): e0148264, 2016.
Article
in English
| MEDLINE | ID: mdl-26849574
10.
[DM-SCOPE, an intermediary appraisal report and benefits of databases in neuromuscular disorders]. / DM-SCOPE, bilan d'étape et atouts des bases de données pour les maladies neuromusculaires.
Med Sci (Paris)
; 31 Spec No 3: 18-9, 2015 Nov.
Article
in French
| MEDLINE | ID: mdl-26546926
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