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A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.
- Published in:
- Human Genetics, 2005, v. 117, n. 5, p. 460, doi. 10.1007/s00439-005-1318-8
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- Publication type:
- Article
Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA.
- Published in:
- Human Genetics, 2001, v. 108, n. 4, p. 356, doi. 10.1007/s004390100497
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- Publication type:
- Article
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 425, doi. 10.3233/JND-230122
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- Publication type:
- Article
Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10 m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 153, doi. 10.3233/JND-230159
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- Publication type:
- Article
Letter to the Editor: In response to P.R. Clemens et al., Efficacy and Safety of Viltolarsen in Boys with Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study, and Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy
- Published in:
- 2023
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- Publication type:
- Letter
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 503, doi. 10.3233/JND-210781
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- Publication type:
- Article
Validation of the parent‐proxy version of the pediatric Charcot‐Marie‐Tooth disease quality of life instrument for children aged 0–7 years.
- Published in:
- Journal of the Peripheral Nervous System, 2023, v. 28, n. 3, p. 382, doi. 10.1111/jns.12557
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- Publication type:
- Article
Validation of the parent‐proxy pediatric Charcot‐Marie‐Tooth disease quality of life outcome measure.
- Published in:
- Journal of the Peripheral Nervous System, 2023, v. 28, n. 2, p. 237, doi. 10.1111/jns.12538
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- Publication type:
- Article
A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early‐onset Charcot‐Marie‐Tooth disease with predominant severe sensory ataxia.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 3, p. 303, doi. 10.1111/jns.12386
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- Publication type:
- Article
KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 117, doi. 10.1111/jns.12368
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- Publication type:
- Article
Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy.
- Published in:
- Scientific Reports, 2016, p. 19750, doi. 10.1038/srep19750
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- Publication type:
- Article
Investigating the Impact of Delivery Routes for Exon Skipping Therapies in the CNS of DMD Mouse Models.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 6, p. 908, doi. 10.3390/cells12060908
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- Publication type:
- Article
Guidance in Social and Ethical Issues Related to Clinical, Diagnostic Care and Novel Therapies for Hereditary Neuromuscular Rare Diseases: "Translating" the Translational.
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- PLoS Currents, 2013, p. 318, doi. 10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec
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- Publication type:
- Article
Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS).
- Published in:
- 2011
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- Publication type:
- Abstract
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures.
- Published in:
- PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0204485
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- Publication type:
- Article
A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples.
- Published in:
- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194540
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- Publication type:
- Article
LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness.
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- Frontiers in Molecular Neuroscience, 2020, v. 13, p. N.PAG, doi. 10.3389/fnmol.2020.00123
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- Publication type:
- Article
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease.
- Published in:
- Molecules, 2017, v. 22, n. 4, p. 563, doi. 10.3390/molecules22040563
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- Publication type:
- Article
Human Skeletal Muscle-derived CD133<sup>+</sup> Cells Form Functional Satellite Cells After Intramuscular Transplantation in Immunodeficient Host Mice.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 5, p. 1008, doi. 10.1038/mt.2014.26
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- Publication type:
- Article
Familial cardiac and skeletal myopathy associated with desmin accumulation.
- Published in:
- Clinical Cardiology, 1994, v. 17, n. 5, p. 277, doi. 10.1002/clc.4960170512
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- Publication type:
- Article
The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1842, doi. 10.1093/hmg/ddt577
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- Publication type:
- Article
Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2079, doi. 10.1093/hmg/ddr083
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- Publication type:
- Article
Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 9, p. 1763, doi. 10.1093/hmg/ddr059
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- Publication type:
- Article
Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 3, p. 589, doi. 10.1093/hmg/ddq506
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- Publication type:
- Article
Characterization of recessive RYR1 mutations in core myopathies.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 10, p. 1269, doi. 10.1093/hmg/ddm092
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- Publication type:
- Article
Characterization of recessive RYR1 mutations in core myopathies.
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- Human Molecular Genetics, 2006, v. 15, n. 18, p. 2791, doi. 10.1093/hmg/ddl221
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- Publication type:
- Article
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
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- Human Molecular Genetics, 2005, v. 14, n. 5, p. 657, doi. 10.1093/hmg/ddi062
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- Publication type:
- Article
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan.
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- Human Molecular Genetics, 2003, v. 12, n. 21, p. 2853, doi. 10.1093/hmg/ddg307
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- Publication type:
- Article
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01486-4
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- Publication type:
- Article
MyoD-induced reprogramming of human fibroblasts and urinary stem cells in vitro: protocols and their applications.
- Published in:
- Frontiers in Physiology, 2023, p. 1, doi. 10.3389/fphys.2023.1145047
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- Publication type:
- Article
Managing clinically significant findings in research: the UK10K example.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1100, doi. 10.1038/ejhg.2013.290
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- Publication type:
- Article
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1249, doi. 10.1038/ejhg.2013.31
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- Publication type:
- Article
Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial.
- Published in:
- PLoS ONE, 2022, v. 17, n. 8, p. 1, doi. 10.1371/journal.pone.0272858
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- Publication type:
- Article
Development of a novel startle response task in Duchenne muscular dystrophy.
- Published in:
- PLoS ONE, 2022, v. 17, n. 4, p. 1, doi. 10.1371/journal.pone.0264091
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- Publication type:
- Article
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4025, doi. 10.1093/brain/awad203
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- Publication type:
- Article
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 3, p. 806, doi. 10.1093/brain/awac452
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- Publication type:
- Article
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 1, p. 252, doi. 10.1093/brain/awac048
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- Publication type:
- Article
Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
- Published in:
- Annals of Neurology, 2023, v. 93, n. 3, p. 563, doi. 10.1002/ana.26518
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- Publication type:
- Article
Natural history of Charcot-Marie-Tooth disease during childhood.
- Published in:
- 2017
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- Publication type:
- journal article
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
- Published in:
- 2016
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- Publication type:
- journal article
Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Making sense of missense variants in TTN-related congenital myopathies.
- Published in:
- Acta Neuropathologica, 2021, v. 141, n. 3, p. 431, doi. 10.1007/s00401-020-02257-0
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- Publication type:
- Article
MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet.
- Published in:
- Acta Neuropathologica, 2007, v. 114, n. 4, p. 403, doi. 10.1007/s00401-007-0247-0
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- Publication type:
- Article
Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 1938, doi. 10.1002/acn3.51417
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- Publication type:
- Article
The altered expression of neurofilament in mouse models and patients with spinal muscular atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 866, doi. 10.1002/acn3.51336
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- Publication type:
- Article
Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2288, doi. 10.1002/acn3.51218
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- Publication type:
- Article
LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 1870, doi. 10.1002/acn3.51172
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- Publication type:
- Article
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1713, doi. 10.1002/acn3.51145
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- Publication type:
- Article
Neurofilament as a potential biomarker for spinal muscular atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 932, doi. 10.1002/acn3.779
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- Publication type:
- Article
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-020-01106-1
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- Publication type:
- Article