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Identification of predictors of response to Erenumab in a cohort of patients with migraine.
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- Cephalalgia Reports, 2021, v. 4, p. 1, doi. 10.1177/25158163211026646
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- Publication type:
- Article
Recent Progress and Challenges in the Development of Antisense Therapies for Myotonic Dystrophy Type 1.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13359, doi. 10.3390/ijms232113359
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- Article
Transgenic Glutathione Peroxidase Mouse Models for Neuroprotection Studies<sup>a</sup>.
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- Annals of the New York Academy of Sciences, 1994, v. 738, n. 1, p. 104, doi. 10.1111/j.1749-6632.1994.tb21795.x
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- Article
Anticipation in myotonic dystrophy type 1 parents with small CTG expansions.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 708, doi. 10.1002/ajmg.a.36950
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- Publication type:
- Article
DM-SCOPE, bilan d'étape et atouts des bases de données pour les maladies neuromusculaires.
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- Médecine Sciences, 2015, v. 31, p. 18, doi. 10.1051/medsci/201531s305
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- Publication type:
- Article
RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.
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- Nature Genetics, 2008, v. 40, n. 1, p. 61, doi. 10.1038/ng.2007.28
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- Publication type:
- Article
RBFOX1 Cooperates with MBNL1 to Control Splicing in Muscle, Including Events Altered in Myotonic Dystrophy Type 1.
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- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107324
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- Publication type:
- Article
The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.
- Published in:
- 2019
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- Publication type:
- journal article
Characterization of a 54-kilodalton human protein kinase recognized by an antiserum raised against the myotonin kinase.
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- 1998
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- Publication type:
- journal article
Increase in the proliferative capacity of human myoblasts by using the T antigen under the vimentin promoter control.
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- 1997
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- Publication type:
- journal article
Phenotypic Manifestations in French-Canadian Population with Charcot-Marie-Tooth Disease Type 1A Associated with 17p11.2 Duplication.
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- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 497, doi. 10.1111/j.1749-6632.1999.tb08620.x
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- Publication type:
- Article
Quantitative assessment of skeletal muscle degeneration in patients with myotonic dystrophy type 1 using MRI.
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- Journal of Magnetic Resonance Imaging, 2012, v. 35, n. 3, p. 678, doi. 10.1002/jmri.22849
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- Publication type:
- Article
Electrophysiological basis of cardiac arrhythmia in a mouse model of myotonic dystrophy type 1.
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- Frontiers in Physiology, 2023, p. 1, doi. 10.3389/fphys.2023.1257682
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- Publication type:
- Article
Cardiac involvement in patient-specific induced pluripotent stem cells of myotonic dystrophy type 1: unveiling the impact of voltage-gated sodium channels.
- Published in:
- Frontiers in Physiology, 2023, p. 1, doi. 10.3389/fphys.2023.1258318
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- Publication type:
- Article
HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence.
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- Nucleic Acids Research, 2005, v. 33, n. 12, p. 3866, doi. 10.1093/nar/gki698
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- Publication type:
- Article
Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial.
- Published in:
- PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0231000
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- Publication type:
- Article
Correction of GSK3β at young age prevents muscle pathology in mice with myotonic dystrophy type 1.
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- FASEB Journal, 2018, v. 32, n. 4, p. 2073, doi. 10.1096/fj.201700700R
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- Publication type:
- Article
Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice.
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- 2019
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- Publication type:
- journal article
Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 12, p. 921, doi. 10.1002/acn3.496
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- Publication type:
- Article
Tau positron emission tomography, cerebrospinal fluid and plasma biomarkers of neurodegeneration, and neurocognitive testing: an exploratory study of participants with myotonic dystrophy type 1.
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- Journal of Neurology, 2022, v. 269, n. 7, p. 3579, doi. 10.1007/s00415-022-10970-x
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- Publication type:
- Article
Natural history of skeletal muscle involvement in myotonic dystrophy type 1: a retrospective study in 204 cases.
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- Journal of Neurology, 2015, v. 262, n. 2, p. 285, doi. 10.1007/s00415-014-7570-x
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- Publication type:
- Article
Oligodendrocyte maturation and progenitor cell proliferation are independently regulated by thyroid hormone.
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- Glia, 1997, v. 19, n. 4, p. 324, doi. 10.1002/(SICI)1098-1136(199704)19:4<324::AID-GLIA5>3.0.CO;2-X
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- Publication type:
- Article
Thyroid hormone up-regulates thyroid hormone receptor β gene expression in rat cerebral hemisphere astrocyte cultures.
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- Glia, 1993, v. 9, n. 2, p. 105, doi. 10.1002/glia.440090203
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- Publication type:
- Article
iPSC-derived cardiomyocytes from patients with myotonic dystrophy type 1 have abnormal ion channel functions and slower conduction velocities.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82007-8
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- Publication type:
- Article
260. A Database for Managing Neuromuscular Disease Data in the Province of Quebec
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- 2005
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- Publication type:
- Abstract
Hammerhead ribozyme-mediated destruction of nuclear foci in myotonic dystrophy myoblasts
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- Molecular Therapy, 2003, v. 7, n. 5, p. 670, doi. 10.1016/S1525-0016(03)00068-6
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- Publication type:
- Article
Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.
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- Journal of Physiology, 2012, v. 590, n. 11, p. 2629, doi. 10.1113/jphysiol.2011.223461
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- Publication type:
- Article
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04370-x
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- Article
Dosage Effect of a Dominant CLCN1 Mutation: A Novel Syndrome.
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- Journal of Child Neurology, 2008, v. 23, n. 2, p. 163, doi. 10.1177/0883073807307974
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- Publication type:
- Article
Molecular, Physiological, and Motor Performance Defects in DMSXL Mice Carrying >1,000 CTG Repeats from the Human DM1 Locus.
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- PLoS Genetics, 2012, v. 8, n. 11, p. 1, doi. 10.1371/journal.pgen.1003043
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- Publication type:
- Article
The use of muscle strength assessed with handheld dynamometers as a non-invasive biological marker in myotonic dystrophy type 1patients: a multicenter study.
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- BMC Musculoskeletal Disorders, 2010, v. 11, p. 72, doi. 10.1186/1471-2474-11-72
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- Publication type:
- Article
MRI of Tibialis Anterior Skeletal Muscle in Myotonic Dystrophy Type 1.
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- Canadian Journal of Neurological Sciences, 2011, v. 38, n. 1, p. 112, doi. 10.1017/S0317167100011148
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- Publication type:
- Article
Estimating Y Chromosome Specific Microsatellite Mutation Frequencies using Deep Rooting Pedigrees.
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- Human Molecular Genetics, 1997, v. 6, n. 5, p. 799, doi. 10.1093/hmg/6.5.799
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- Article
Implication of SPARC in the modulation of the extracellular matrix and mitochondrial function in muscle cells.
- Published in:
- PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0192714
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- Article