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The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden.
- Published in:
- BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03570-x
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- Article
Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review.
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- PharmacoEconomics, 2023, v. 41, n. 3, p. 275, doi. 10.1007/s40273-022-01197-9
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- Publication type:
- Article
Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence.
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- Drug Design, Development & Therapy, 2022, v. 16, p. 1865, doi. 10.2147/DDDT.S214174
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- Publication type:
- Article
Costs of Illness of Spinal Muscular Atrophy: A Systematic Review.
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- Applied Health Economics & Health Policy, 2021, v. 19, n. 4, p. 501, doi. 10.1007/s40258-020-00624-2
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- Publication type:
- Article
Genetic Spectrum of Left Ventricular Non-Compaction in Paediatric Patients.
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- Cardiology, 2020, v. 145, n. 11, p. 746, doi. 10.1159/000510439
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- Publication type:
- Article
FLNC Expression Level Influences the Activity of TEAD-YAP/TAZ Signaling.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1343, doi. 10.3390/genes11111343
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- Publication type:
- Article
Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.
- Published in:
- Genes, 2020, v. 11, n. 10, p. 1201, doi. 10.3390/genes11101201
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- Publication type:
- Article
Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis.
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- European Journal of Epidemiology, 2020, v. 35, n. 7, p. 643, doi. 10.1007/s10654-020-00613-8
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- Publication type:
- Article
Economic Costs of Myasthenia Gravis: A Systematic Review.
- Published in:
- 2020
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- Publication type:
- journal article
Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments.
- Published in:
- PLoS ONE, 2020, v. 15, n. 3, p. 1, doi. 10.1371/journal.pone.0229227
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- Article
Improvements in health status and utility associated with ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy.
- Published in:
- 2020
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- Publication type:
- journal article
Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00608
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- Publication type:
- Article
Parents' Experiences of Information and Decision Making in the Care of Their Child With Severe Spinal Muscular Atrophy: A Population Survey.
- Published in:
- Journal of Child Neurology, 2019, v. 34, n. 4, p. 210, doi. 10.1177/0883073818822900
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- Publication type:
- Article
A mini-review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy.
- Published in:
- 2019
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- Publication type:
- journal article
Bereaved Parents More Satisfied With the Care Given to Their Child With Severe Spinal Muscular Atrophy Than Nonbereaved.
- Published in:
- Journal of Child Neurology, 2019, v. 34, n. 2, p. 104, doi. 10.1177/0883073818811544
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- Publication type:
- Article
De novo mutations in FLNC leading to early‐onset restrictive cardiomyopathy and congenital myopathy.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1161, doi. 10.1002/humu.23559
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- Publication type:
- Article
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
- Published in:
- 2017
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- Publication type:
- journal article
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0163362
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- Publication type:
- Article
A protocol to develop clinical guidelines for inclusion-body myositis.
- Published in:
- 2016
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- Publication type:
- journal article
Primary Murine Myotubes as a Model for Investigating Muscular Dystrophy.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/594751
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- Publication type:
- Article
Muscle dysfunction and structural defects of dystrophin‐null sapje mutant zebrafish larvae are rescued by ataluren treatment.
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- FASEB Journal, 2014, v. 28, n. 4, p. 1593, doi. 10.1096/fj.13-240044
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- Publication type:
- Article
Diagnostic Challenge in Desmin Cardiomyopathy With Transformation of Clinical Phenotypes.
- Published in:
- 2013
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- Publication type:
- Report
Guidance in Social and Ethical Issues Related to Clinical, Diagnostic Care and Novel Therapies for Hereditary Neuromuscular Rare Diseases: "Translating" the Translational.
- Published in:
- PLoS Currents, 2013, p. 318, doi. 10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec
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- Publication type:
- Article
Consensus Statement on Standard of Care for Congenital Myopathies.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 3, p. 363, doi. 10.1177/0883073812436605
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- Publication type:
- Article
Consensus Statement on Standard of Care for Congenital Muscular Dystrophies.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 12, p. 1559, doi. 10.1177/0883073810381924
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- Publication type:
- Article
Angelman syndrome, clinics in developmental medicine no. 17.
- Published in:
- 2009
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- Publication type:
- Book Review
Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria.
- Published in:
- Journal of Muscle Research & Cell Motility, 2008, v. 29, n. 1, p. 25
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- Publication type:
- Article
Long-term follow-up of children with obstetric brachial plexus palsy I: functional aspects.
- Published in:
- Developmental Medicine & Child Neurology, 2007, v. 49, n. 3, p. 198, doi. 10.1111/j.1469-8749.2007.00198.x
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- Publication type:
- Article
Long-term follow-up of children with obstetric brachial plexus palsy II: neurophysiological aspects.
- Published in:
- Developmental Medicine & Child Neurology, 2007, v. 49, n. 3, p. 204, doi. 10.1111/j.1469-8749.2007.00204.x
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- Publication type:
- Article
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
- Published in:
- Human Mutation, 2006, v. 27, n. 9, p. 906, doi. 10.1002/humu.20351
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- Publication type:
- Article
Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation.
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- Acta Neuropathologica, 2002, v. 104, n. 5, p. 493, doi. 10.1007/s00401-002-0583-z
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- Article
Book Reviews.
- Published in:
- 2002
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- Publication type:
- Book Review
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 12, p. 2191, doi. 10.1093/hmg/8.12.2191
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- Publication type:
- Article
Up-regulation of a novel integrin α-chain (α<sub>mt</sub>) on human fetal myotubes.
- Published in:
- Developmental Dynamics, 1995, v. 204, n. 1, p. 57, doi. 10.1002/aja.1002040108
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- Publication type:
- Article
Intracellular distribution of the c-fos antigen during the cell cycle.
- Published in:
- Journal of Cellular Physiology, 1990, v. 143, n. 3, p. 475, doi. 10.1002/jcp.1041430311
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- Publication type:
- Article
c- fos Reduces growth factor requirements for mitogenic stimulation of L6 rat myoblasts.
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- Journal of Cellular Physiology, 1990, v. 142, n. 2, p. 352, doi. 10.1002/jcp.1041420218
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- Publication type:
- Article
Elevated c- fos expression inhibits differentiation of L6 rat myoblasts.
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- Journal of Cellular Physiology, 1989, v. 139, n. 2, p. 237, doi. 10.1002/jcp.1041390204
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- Publication type:
- Article
N-myc and c-src genes are differentially regulated in PCC7 embryonal carcinoma cells undergoing neuronal differentiation.
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- Journal of Cellular Physiology, 1986, v. 127, n. 2, p. 274, doi. 10.1002/jcp.1041270213
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- Publication type:
- Article
Density-dependent arrest of DNA replication is accompanied by decreased levels of c-myc mRNA in myogenic but not in differentiation-defective myoblasts.
- Published in:
- Journal of Cellular Physiology, 1985, v. 125, n. 3, p. 465, doi. 10.1002/jcp.1041250315
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- Publication type:
- Article