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Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Limb-girdle muscular dystrophy in childhood.
- Published in:
- 2005
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- Publication type:
- journal article
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.
- Published in:
- 2017
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- Publication type:
- journal article
Electrophysiological Characterization of a MYH7 Variant with Tremor Phenotype.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 4, p. 646, doi. 10.1002/mdc3.13664
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- Publication type:
- Article
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
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- Journal of Child Neurology, 2016, v. 31, n. 9, p. 1114, doi. 10.1177/0883073816639718
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- Publication type:
- Article
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
- Published in:
- 2021
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- Publication type:
- journal article
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
- Published in:
- 2017
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- Publication type:
- Letter
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 246, doi. 10.1093/brain/awu368
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- Publication type:
- Article
Tyrosine 705 Phosphorylation of STAT3 Is Associated with Phenotype Severity in TGFβ1 Transgenic Mice.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/843743
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- Publication type:
- Article
Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter.
- Published in:
- Science Signaling, 2016, v. 9, n. 439, p. 1, doi. 10.1126/scisignal.aae0546
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- Publication type:
- Article
Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2337, doi. 10.1002/ajmg.a.63306
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- Publication type:
- Article
A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin α2-related dystrophy.
- Published in:
- Pediatric Pulmonology, 2017, v. 52, n. 4, p. 524, doi. 10.1002/ppul.23622
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- Publication type:
- Article
Chemical shift-based MRI to measure fat fractions in dystrophic skeletal muscle.
- Published in:
- Magnetic Resonance in Medicine, 2014, v. 72, n. 1, p. 8, doi. 10.1002/mrm.24917
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- Publication type:
- Article
Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease.
- Published in:
- Pediatric Radiology, 2008, v. 38, n. 6, p. 694, doi. 10.1007/s00247-008-0763-7
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- Publication type:
- Article
Myotubes differentiate optimally on substrates with tissue-like stiffness: pathological implications for soft or stiff microenvironments.
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- Journal of Cell Biology, 2004, v. 166, n. 6, p. 877, doi. 10.1083/jcb.200405004
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- Publication type:
- Article
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
- Published in:
- Skeletal Muscle, 2020, v. 10, n. 1, p. 1, doi. 10.1186/s13395-020-00243-4
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- Publication type:
- Article
Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0081302
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- Publication type:
- Article
Nuclear Factor-κB Pathway Mediates the Molecular Pathogenesis of LMNA-Related Muscular Dystrophies.
- Published in:
- Biochemical Genetics, 2020, v. 58, n. 6, p. 966, doi. 10.1007/s10528-020-09989-4
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- Publication type:
- Article
Congenital Myopathies: An Update.
- Published in:
- Current Neurology & Neuroscience Reports, 2012, v. 12, n. 2, p. 165, doi. 10.1007/s11910-012-0255-x
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- Publication type:
- Article
Congenital Muscular Dystrophies: Toward Molecular Therapeutic Interventions.
- Published in:
- Current Neurology & Neuroscience Reports, 2010, v. 10, n. 2, p. 83, doi. 10.1007/s11910-010-0092-8
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- Publication type:
- Article
6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies.
- Published in:
- 2018
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- Publication type:
- journal article
Utility of neuromuscular ultrasound for electromyographic needle localization within diseased muscle.
- Published in:
- 2019
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- Publication type:
- journal article
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.
- Published in:
- 2019
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- Publication type:
- journal article
Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Electrical impedance myography discriminates congenital muscular dystrophy from controls.
- Published in:
- 2016
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- Publication type:
- journal article
Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 5, p. 822, doi. 10.1002/mus.22226
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- Publication type:
- Article
Predominant fiber atrophy and fiber type disproportion in early ullrich disease.
- Published in:
- Muscle & Nerve, 2008, v. 38, n. 3, p. 1184, doi. 10.1002/mus.21088
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- Publication type:
- Article
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 5, p. 475, doi. 10.1111/j.1469-8749.2009.03471.x
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- Publication type:
- Article
Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 7, p. 1049, doi. 10.1007/s00415-008-0847-1
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- Publication type:
- Article
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 2, p. 143, doi. 10.1007/s00415-004-0289-3
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- Publication type:
- Article
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1499, doi. 10.1038/ejhg.2008.132
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- Publication type:
- Article
Understanding Titin Variants in the Age of Next-Generation Sequencing—A Titanic Challenge.
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- JAMA Neurology, 2018, v. 75, n. 5, p. 539, doi. 10.1001/jamaneurol.2017.3068
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- Publication type:
- Article
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 7, p. 2123, doi. 10.1093/brain/awq108
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- Publication type:
- Article
SPTLC1 Mutations Associated with Early Onset Amyotrophic Lateral Sclerosis Impair ORMDL Regulation.
- Published in:
- FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.00013
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- Publication type:
- Article
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
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- Epilepsia (Series 4), 2021, v. 62, n. 1, p. e13, doi. 10.1111/epi.16784
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- Publication type:
- Article
Reengineering a transmembrane protein to treat muscular dystrophy using exon skipping.
- Published in:
- 2015
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- Publication type:
- journal article
Expression, localization and functional divergence of αB-crystallin and heat shock protein 27 in core myopathies and neurogenic atrophy.
- Published in:
- Acta Neuropathologica, 2002, v. 104, n. 3, p. 297, doi. 10.1007/s00401-002-0559-z
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- Publication type:
- Article
Meeting Report: 2023 Muscular Dystrophy Association Summit on 'Safety and Challenges in Gene Therapy of Neuromuscular Diseases'.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1139, doi. 10.3233/JND-240002
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- Publication type:
- Article
The First Decade of Journal of Neuromuscular Diseases: Supporting and Advancing the Rapidly Evolving Field of Translational Research.
- Published in:
- 2024
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- Publication type:
- Editorial
Meeting Report: 2022 Muscular Dystrophy Association Summit on 'Safety and Challenges in Gene Transfer Therapy'.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 327, doi. 10.3233/JND-221639
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- Publication type:
- Article
Slowly Progressive Limb-Girdle Weakness and HyperCKemia – Limb Girdle Muscular Dystrophy or Anti-3-Hydroxy-3-Methylglutaryl-CoA-Reductase-Myopathy?
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 607, doi. 10.3233/JND-220810
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- Publication type:
- Article
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
Attribution of original contribution in large datasets in the era of multi‐omic studies.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 6, p. 895, doi. 10.1002/acn3.51571
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- Publication type:
- Article
Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2184, doi. 10.1002/acn3.51450
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- Publication type:
- Article
PIEZO2 mediates injury-induced tactile pain in mice and humans.
- Published in:
- Science Translational Medicine, 2018, v. 10, n. 462, p. 1, doi. 10.1126/scitranslmed.aat9892
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- Publication type:
- Article
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.
- Published in:
- 2019
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- Publication type:
- journal article
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy.
- Published in:
- Annals of Neurology, 2011, v. 69, n. 1, p. 206, doi. 10.1002/ana.22283
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- Publication type:
- Article