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AI driven analysis of MRI to measure health and disease progression in FSHD.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-65802-x
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- Publication type:
- Article
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 8, p. 698, doi. 10.1093/hmg/ddae007
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- Publication type:
- Article
A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD).
- Published in:
- Muscle & Nerve, 2024, v. 69, n. 3, p. 362, doi. 10.1002/mus.28031
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- Publication type:
- Article
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 2, p. 414, doi. 10.1093/brain/awad312
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- Publication type:
- Article
A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 6, p. 1031, doi. 10.3233/JND-221636
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- Publication type:
- Article
Milestones of progression in myotonic dystrophy type 1 and type 2.
- Published in:
- 2022
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- Publication type:
- journal article
Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole‐body fat‐referenced MRI: Protocol development, multicenter feasibility, and repeatability.
- Published in:
- Muscle & Nerve, 2022, v. 66, n. 2, p. 183, doi. 10.1002/mus.27638
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- Publication type:
- Article
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 517, doi. 10.3233/JND-220794
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- Publication type:
- Article
Randomized phase 2 study of ACE‐083, a muscle‐promoting agent, in facioscapulohumeral muscular dystrophy.
- Published in:
- Muscle & Nerve, 2022, v. 66, n. 1, p. 50, doi. 10.1002/mus.27558
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- Article
Reply: Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population.
- Published in:
- 2022
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- Publication type:
- editorial
Elevated plasma complement components in facioscapulohumeral dystrophy.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 11, p. 1821, doi. 10.1093/hmg/ddab364
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- Publication type:
- Article
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
- Published in:
- 2022
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- Publication type:
- journal article
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 5, p. 748, doi. 10.1093/hmg/ddab250
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- Publication type:
- Article
Predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy.
- Published in:
- 2021
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- Publication type:
- journal article
A patient‐focused survey to assess the effects of the COVID‐19 pandemic and social guidelines on people with muscular dystrophy.
- Published in:
- Muscle & Nerve, 2021, v. 64, n. 3, p. 321, doi. 10.1002/mus.27349
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- Publication type:
- Article
The facioscapulohumeral muscular dystrophy Rasch‐built overall disability scale (FSHD‐RODS).
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 7, p. 2339, doi. 10.1111/ene.14863
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- Publication type:
- Article
Current Therapeutic Approaches in FSHD.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 3, p. 441, doi. 10.3233/JND-200554
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- Publication type:
- Article
Relationship of DUX4 and target gene expression in FSHD myocytes.
- Published in:
- Human Mutation, 2021, v. 42, n. 4, p. 421, doi. 10.1002/humu.24171
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- Publication type:
- Article
Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy.
- Published in:
- 2021
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- Publication type:
- journal article
Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 16, p. 2746, doi. 10.1093/hmg/ddaa164
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- Publication type:
- Article
Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 5, p. 1, doi. 10.1371/journal.pgen.1008754
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- Publication type:
- Article
Magnetic resonance imaging correlates with electrical impedance myography in facioscapulohumeral muscular dystrophy.
- Published in:
- 2020
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- Publication type:
- journal article
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study.
- Published in:
- 2019
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- Publication type:
- journal article
Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 7, p. 1064, doi. 10.1093/hmg/ddy400
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- Publication type:
- Article
MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 3, p. 476, doi. 10.1093/hmg/ddy364
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- Publication type:
- Article
Long Exercise Test in Periodic Paralysis: A Bayesian Analysis.
- Published in:
- 2019
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- Publication type:
- journal article
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3488, doi. 10.1093/hmg/ddy236
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- Publication type:
- Article
Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2644, doi. 10.1093/hmg/ddy173
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- Publication type:
- Article
Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study.
- Published in:
- 2018
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- Publication type:
- journal article
Facioscapulohumeral muscular dystrophy functional composite outcome measure.
- Published in:
- 2018
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- Publication type:
- journal article
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.
- Published in:
- 2018
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- Publication type:
- journal article
Review of the Diagnosis and Treatment of Periodic Paralysis.
- Published in:
- 2018
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- Publication type:
- journal article
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 4, p. 716, doi. 10.1093/hmg/ddx437
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- Publication type:
- Article
BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.
- Published in:
- Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0134-x
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- Publication type:
- Article
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.
- Published in:
- Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0129-7
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- Publication type:
- Article
Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.
- Published in:
- 2017
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- Publication type:
- case study
Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4419, doi. 10.1093/hmg/ddw271
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- Publication type:
- Article
Electrical impedance myography in facioscapulohumeral muscular dystrophy.
- Published in:
- 2016
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- Publication type:
- journal article
Facioscapulohumeral Dystrophy.
- Published in:
- Current Neurology & Neuroscience Reports, 2016, v. 16, n. 7, p. 1, doi. 10.1007/s11910-016-0667-0
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- Publication type:
- Article
Efficacy of prednisone for the treatment of ocular myasthenia (EPITOME): A randomized, controlled trial.
- Published in:
- 2016
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- Publication type:
- journal article
Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.
- Published in:
- 2015
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- Publication type:
- journal article
DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4817, doi. 10.1093/hmg/ddv206
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- Publication type:
- Article
Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.
- Published in:
- Human Mutation, 2015, v. 36, n. 7, p. 679, doi. 10.1002/humu.22792
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- Publication type:
- Article
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 3, p. 659, doi. 10.1093/hmg/ddu486
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- Publication type:
- Article
A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.04996.001
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- Publication type:
- Article
Restrictive lung involvement in facioscapulohumeral muscular dystrophy.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 5, p. 739, doi. 10.1002/mus.24218
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- Publication type:
- Article
DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5342, doi. 10.1093/hmg/ddu251
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- Publication type:
- Article
Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 998, doi. 10.1002/humu.22593
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- Publication type:
- Article
Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.
- Published in:
- Skeletal Muscle, 2014, v. 4, n. 1, p. 1, doi. 10.1186/2044-5040-4-12
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- Publication type:
- Article