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Nemaline myopathies: a current view.
- Published in:
- Journal of Muscle Research & Cell Motility, 2019, v. 40, n. 2, p. 111, doi. 10.1007/s10974-019-09519-9
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- Publication type:
- Article
Diversity of Neuromuscular Pathology in Lethal Multiple Pterygium Syndrome.
- Published in:
- Pediatric & Developmental Pathology, 2003, v. 6, n. 1, p. 59, doi. 10.1007/s10024-002-0042-9
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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
A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00918-5
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- Publication type:
- Article
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
- Published in:
- 2015
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- Publication type:
- journal article
The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 293, doi. 10.1093/brain/awu356
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- Publication type:
- Article
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.
- Published in:
- 2008
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- Publication type:
- journal article
Vici syndrome-A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 440, doi. 10.1002/ajmg.a.34273
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- Publication type:
- Article
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy.
- Published in:
- Nature Genetics, 1999, v. 23, n. 2, p. 208, doi. 10.1038/13837
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- Publication type:
- Article
Camptocormia in Parkinson's Disease: A Muscle Disease Due to Dysregulated Proprioceptive Polysynaptic Reflex Arch.
- Published in:
- Frontiers in Aging Neuroscience, 2016, p. 1, doi. 10.3389/fnagi.2016.00128
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- Publication type:
- Article
Nesprins: Tissue-Specific Expression of Epsilon and Other Short Isoforms.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094380
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- Publication type:
- Article
Flow Cytometry for the Analysis of α-Dystroglycan Glycosylation in Fibroblasts from Patients with Dystroglycanopathies.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068958
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- Publication type:
- Article
Actin Nemaline Myopathy Mouse Reproduces Disease, Suggests Other Actin Disease Phenotypes and Provides Cautionary Note on Muscle Transgene Expression.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0028699
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- Publication type:
- Article
The apparent absence of lamin B1 and emerin in many tissue nuclei is due to epitope masking.
- Published in:
- Journal of Molecular Histology, 2005, v. 36, n. 5, p. 337, doi. 10.1007/s10735-005-9004-7
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- Publication type:
- Article
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.
- Published in:
- Muscle & Nerve, 2010, v. 41, n. 2, p. 166, doi. 10.1002/mus.21166
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- Publication type:
- Article
Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction?
- Published in:
- 1999
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- Publication type:
- journal article
Characterisation of the transcription factor, SIX5, using a new panel of monoclonal antibodiesIn this paper Six is used for the mouse gene/protein and more generally, while SIX is used specifically for the human gene/protein.
- Published in:
- Journal of Cellular Biochemistry, 2005, v. 95, n. 5, p. 990, doi. 10.1002/jcb.20454
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- Publication type:
- Article
Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts.
- Published in:
- Human Genetics, 2006, v. 120, n. 4, p. 487, doi. 10.1007/s00439-006-0228-8
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- Publication type:
- Article
Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 402, doi. 10.1007/s004390100598
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- Publication type:
- Article
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-0893-1
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- Publication type:
- Article
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0781-8
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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.
- Published in:
- 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
The 3'-untranslated region of the dystrophin gene--conservation and consequences of loss.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 7, p. 412, doi. 10.1038/sj.ejhg.5200822
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- Publication type:
- Article
Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping.
- Published in:
- JAMA Neurology, 2014, v. 71, n. 1, p. 32, doi. 10.1001/jamaneurol.2013.4908
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- Publication type:
- Article
Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50728-6
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- Publication type:
- Article
TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 2, p. 1, doi. 10.1111/nan.12771
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- Publication type:
- Article
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 269
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- Publication type:
- Article
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 12, p. 3544, doi. 10.1093/brain/awr291
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- Publication type:
- Article
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 2, p. 452, doi. 10.1093/brain/awn325
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- Publication type:
- Article
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2024, doi. 10.1093/brain/awm096
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- Publication type:
- Article
Distal myopathy caused by homozygous missense mutations in the nebulin gene.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 6, p. 1465, doi. 10.1093/brain/awm094
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- Publication type:
- Article
Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis.
- Published in:
- Rheumatology, 2022, v. 61, n. 4, p. 1645, doi. 10.1093/rheumatology/keab553
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- Publication type:
- Article
A chemical chaperone improves muscle function in mice with a RyR1 mutation.
- Published in:
- Nature Communications, 2017, v. 8, n. 3, p. 14659, doi. 10.1038/ncomms14659
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- Publication type:
- Article
Exon-specific dystrophin antibodies for studies of Duchenne muscular dystrophy.
- Published in:
- Translational Neuroscience, 2010, v. 1, n. 3, p. 233, doi. 10.2478/v10134-010-0034-7
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- Publication type:
- Article
A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity.
- Published in:
- Brain Pathology, 2009, v. 19, n. 4, p. 596, doi. 10.1111/j.1750-3639.2008.00198.x
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- Publication type:
- Article
Non-sarcolemmal Muscular Dystrophies.
- Published in:
- Brain Pathology, 2001, v. 11, n. 2, p. 193, doi. 10.1111/j.1750-3639.2001.tb00392.x
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- Publication type:
- Article
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 1, p. 83, doi. 10.1002/ana.21553
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- Publication type:
- Article
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
- Published in:
- Annals of Neurology, 2008, v. 64, n. 2, p. 177, doi. 10.1002/ana.21417
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- Publication type:
- Article
Nemaline myopathy caused by absence of α‐skeletal muscle actin.
- Published in:
- Annals of Neurology, 2007, v. 61, n. 2, p. 175, doi. 10.1002/ana.21035
- By:
- Publication type:
- Article
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 4, p. 537
- By:
- Publication type:
- Article
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 7, p. 1427, doi. 10.1007/s00415-016-8154-8
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- Publication type:
- Article
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor ( RYR1) gene.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 6, p. 1504, doi. 10.1007/s00415-012-6817-7
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- Publication type:
- Article
Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development.
- Published in:
- Developmental Dynamics, 2010, v. 239, n. 3, p. 998, doi. 10.1002/dvdy.22229
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- Publication type:
- Article
Rescue of skeletal muscle α-actin-null mice by cardiac (fetal) α-actin.
- Published in:
- Journal of Cell Biology, 2009, v. 185, n. 5, p. 903, doi. 10.1083/jcb.200812132
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- Publication type:
- Article
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4263, doi. 10.1093/hmg/ddy320
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- Publication type:
- Article
Clinical and Myopathological Characteristics of Desminopathy Caused by a Mutation in Desmin Tail Domain.
- Published in:
- European Neurology, 2012, v. 68, n. 5, p. 279, doi. 10.1159/000341617
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- Publication type:
- Article
Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0150818
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- Publication type:
- Article
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.
- Published in:
- Acta Neuropathologica, 2013, v. 125, n. 6, p. 917, doi. 10.1007/s00401-013-1113-x
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- Publication type:
- Article