Found: 25
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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5031, doi. 10.1093/brain/awad257
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- Publication type:
- Article
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3273, doi. 10.1093/brain/awad039
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- Publication type:
- Article
Reply: Rational therapy with vigabatrin and a ketogenic diet in a patient with GAD1 deficiency.
- Published in:
- 2020
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- Publication type:
- Letter
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
- Published in:
- 2017
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- Publication type:
- journal article
Effects of a R133W β-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres.
- Published in:
- Journal of Physiology, 2007, v. 581, n. 3, p. 1283, doi. 10.1113/jphysiol.2007.129759
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- Publication type:
- Article
Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0142094
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- Publication type:
- Article
Phenotypes of Myopathy-Related Beta-Tropomyosin Mutants in Human and Mouse Tissue Cultures.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0072396
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- Publication type:
- Article
Induced shift in myosin heavy chain expression in myosin myopathy by endurance training.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 2, p. 179, doi. 10.1007/s00415-004-0295-5
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- Publication type:
- Article
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 801, doi. 10.1038/ejhg.2013.250
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- Publication type:
- Article
Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 617, doi. 10.1038/sj.ejhg.5201375
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- Publication type:
- Article
Preoperative myocardial expression of E3 ubiquitin ligases in aortic stenosis patients undergoing valve replacement and their association to postoperative hypertrophy.
- Published in:
- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0237000
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- Publication type:
- Article
MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 7, p. e238, doi. 10.1093/brain/aws365
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- Publication type:
- Article
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 6, p. 1682, doi. 10.1093/brain/aws103
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- Publication type:
- Article
Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1451, doi. 10.1093/brain/awq083
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- Publication type:
- Article
Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.
- Published in:
- BMC Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12863-016-0382-5
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- Publication type:
- Article
Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 11, p. 2197, doi. 10.1002/acn3.50912
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- Publication type:
- Article
A Caenorhabditis elegans model of the myosin heavy chain IIa E706R mutation.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 3, p. 442
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- Publication type:
- Article
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.
- Published in:
- Annals of Neurology, 2003, v. 54, n. 4, p. 494
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- Publication type:
- Article
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 13, p. 3638, doi. 10.1093/hmg/ddv108
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- Publication type:
- Article
Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170613
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- Publication type:
- Article
Myosinopathies: pathology and mechanisms.
- Published in:
- Acta Neuropathologica, 2013, v. 125, n. 1, p. 3, doi. 10.1007/s00401-012-1024-2
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- Publication type:
- Article
Distal arthrogryposis: clinical and genetic findings.
- Published in:
- Acta Paediatrica, 2012, v. 101, n. 8, p. 877, doi. 10.1111/j.1651-2227.2012.02708.x
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- Publication type:
- Article
Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.
- Published in:
- 2016
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- Publication type:
- journal article
Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells.
- Published in:
- 2012
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- Publication type:
- journal article
Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells.
- Published in:
- BMC Musculoskeletal Disorders, 2012, v. 13, n. 1, p. 262, doi. 10.1186/1471-2474-13-262
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- Publication type:
- Article