Found: 34
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The Impact of Congenital and Childhood Myotonic Dystrophy on Quality of Life: A Qualitative Study of Associated Symptoms.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 7, p. 983, doi. 10.1177/0883073813484804
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- Publication type:
- Article
High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1619
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- Publication type:
- Article
Same-day physical therapy consults in an outpatient neuromuscular disease physician clinic.
- Published in:
- Journal of Multidisciplinary Healthcare, 2016, v. 9, p. 493, doi. 10.2147/JMDH.S113045
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- Publication type:
- Article
Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach.
- Published in:
- Journal of Multidisciplinary Healthcare, 2016, v. 9, p. 7, doi. 10.2147/JMDH.S69979
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- Publication type:
- Article
Long‐term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis.
- Published in:
- Muscle & Nerve, 2021, v. 64, n. 3, p. 342, doi. 10.1002/mus.27354
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- Publication type:
- Article
12‐Month progression of motor and functional outcomes in congenital myotonic dystrophy.
- Published in:
- Muscle & Nerve, 2021, v. 63, n. 3, p. 384, doi. 10.1002/mus.27147
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- Publication type:
- Article
Limb-girdle muscular dystrophy: A perspective from adult patients on what matters most.
- Published in:
- 2019
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- Publication type:
- journal article
Patient-reported study of the impact of pediatric-onset myotonic dystrophy.
- Published in:
- 2019
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- Publication type:
- journal article
Modified dynamic gait index and limits of stability in myotonic dystrophy type 1.
- Published in:
- 2018
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- Publication type:
- journal article
Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy.
- 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
The difficulties and importance of research in rare genetic diseases.
- Published in:
- 2018
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- Publication type:
- Editorial
Physical function and mobility in children with congenital myotonic dystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
A population-based survey of risk for cancer in individuals diagnosed with myotonic dystrophy.
- Published in:
- 2016
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- Publication type:
- journal article
Myotonic dystrophy health index: Correlations with clinical tests and patient function.
- Published in:
- 2016
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- Publication type:
- journal article
Relative risks for comorbidities associated with myotonic dystrophy: A population-based analysis.
- Published in:
- 2015
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- Publication type:
- journal article
Prospective study of muscle cramps in Charcot-Marie-Tooth disease.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 4, p. 485, doi. 10.1002/mus.24333
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- Publication type:
- Article
Visualization of the diaphragm muscle with ultrasound improves diagnostic accuracy of phrenic nerve conduction studies.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 5, p. 669, doi. 10.1002/mus.24059
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- Publication type:
- Article
Myotonia congenita in a patient who presented with diplopia and ptosis.
- Published in:
- Muscle & Nerve, 2013, v. 47, n. 2, p. 307, doi. 10.1002/mus.23634
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- Publication type:
- Article
Patient-identified disease burden in facioscapulohumeral muscular dystrophy.
- Published in:
- Muscle & Nerve, 2012, v. 46, n. 6, p. 948, doi. 10.1002/mus.23529
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- Publication type:
- Article
Rapid resolution of severe neuralgic amyotrophy after treatment with corticosteroids and intravenous immunoglobulin.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 2, p. 304, doi. 10.1002/mus.22100
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- Publication type:
- Article
Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy.
- Published in:
- 2016
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- Publication type:
- journal article
Diagnosis and Management of Myotonic Dystrophy Type 1.
- Published in:
- JAMA: Journal of the American Medical Association, 2024, v. 331, n. 14, p. 1227, doi. 10.1001/jama.2024.2511
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- Publication type:
- Article
Neurology Advocacy 2.0.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 2, p. 151, doi. 10.1001/jamaneurol.2015.2666
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- Publication type:
- Article
The Evolution of Lightning Flash Density, Flash Size, and Flash Energy During Hurricane Dorian's (2019) Intensification and Weakening.
- Published in:
- Geophysical Research Letters, 2021, v. 48, n. 8, p. 1, doi. 10.1029/2020GL092067
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- Publication type:
- Article
Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1413, doi. 10.1093/hmg/ddac254
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- Publication type:
- Article
Performative Criticism: Samuel Beckett and Georges Duthuit.
- Published in:
- Journal of Art Historiography, 2013, n. 9, p. 1
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- Publication type:
- Article
Phenotypic diversity in an international Cure VCP Disease registry.
- Published in:
- 2020
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- Publication type:
- journal article
The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome.
- Published in:
- 2018
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- Publication type:
- journal article
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.
- Published in:
- BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03588-1
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- Publication type:
- Article
Myopathy in the York Platelet Syndrome: An Underrecognized Complication.
- Published in:
- Case Reports in Pathology, 2018, p. 1, doi. 10.1155/2018/5130143
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- Publication type:
- Article
INFLUENCERS AND ENTREPRENEURS ON THE TWITCH PLATFORM: LEVERAGING A NEW RESOURCE ACQUISITION GAME.
- Published in:
- Frontiers of Entrepreneurship Research, 2022, p. 42
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- Publication type:
- 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
Validation of the Italian version of the Charcot‐Marie‐Tooth Health Index.
- Published in:
- Journal of the Peripheral Nervous System, 2020, v. 25, n. 3, p. 292, doi. 10.1111/jns.12397
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- Publication type:
- Article