Found: 16
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Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.01027
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- Publication type:
- Article
A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2445, doi. 10.1002/ajmg.a.37824
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- Publication type:
- Article
Interatrial block as a first clinical presentation of atrial cardiomyopathy related to a novel LMNA variant: a case report.
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- European Heart Journal Case Reports, 2023, v. 7, n. 12, p. 1, doi. 10.1093/ehjcr/ytad532
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- Publication type:
- Article
The 6 Minute Walk Test and Performance of Upper Limb in Ambulant Duchenne Muscular Dystrophy Boys.
- Published in:
- PLoS Currents, 2014, p. 497, doi. 10.1371/currents.md.a93d9904d57dcb08936f2ea89bca6fe6
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- Publication type:
- Article
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.
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- Pediatric Reports, 2022, v. 14, n. 1, p. 131, doi. 10.3390/pediatric14010019
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- Publication type:
- Article
Gender effect on onset, prevalence and surgical treatment of cataract in patients with Myotonic Dystrophy type 1.
- Published in:
- Acta Myologica, 2022, v. 41, n. 3, p. 105, doi. 10.36185/2532-1900-075
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- Article
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.
- Published in:
- Acta Myologica, 2019, v. 38, n. 2, p. 33
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- Publication type:
- Article
Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report.
- Published in:
- Acta Myologica, 2017, v. 36, n. 4, p. 213
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- Publication type:
- Article
Management of cardiac involvement in muscular dystrophies: paediatric versus adult forms.
- Published in:
- Acta Myologica, 2016, v. 35, p. 128
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- Article
Novel mutations in LMNA A/C gene and associated phenotypes.
- Published in:
- Acta Myologica, 2015, v. 34, n. 2/3, p. 116
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- Article
Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene.
- Published in:
- Acta Myologica, 2015, v. 34, n. 1, p. 9
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- Publication type:
- Article
CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita.
- Published in:
- Frontiers in Neurology, 2020, p. 1, doi. 10.3389/fneur.2020.00063
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- Publication type:
- Article
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0151445
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- Publication type:
- Article
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
- Published in:
- Biomedicines, 2024, v. 12, n. 5, p. 1112, doi. 10.3390/biomedicines12051112
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- Publication type:
- Article
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1273, doi. 10.1002/humu.23581
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- Publication type:
- Article
The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution.
- Published in:
- 2022
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- Publication type:
- Case Study