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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 135, doi. 10.1007/s00439-002-0869-1
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- Article
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ<sub>10</sub> deficiency.
- Published in:
- FASEB Journal, 2010, v. 24, n. 10, p. 3733, doi. 10.1096/fj.09-152728
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- Article
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. R1, p. R46, doi. 10.1093/hmg/ddq137
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- Article
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1399, doi. 10.1093/hmg/ddq015
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- Article
CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02643-5
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- Article
ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.
- Published in:
- Nature Communications, 2015, v. 6, n. 1, p. 6171, doi. 10.1038/ncomms7171
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- Article
Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis.
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- Acta Neuropathologica, 2017, v. 133, n. 6, p. 887, doi. 10.1007/s00401-017-1687-9
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- Article
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.
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- Acta Neuropathologica, 2015, v. 130, n. 6, p. 863, doi. 10.1007/s00401-015-1480-6
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- Publication type:
- Article
Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.
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- Acta Neuropathologica, 2015, v. 130, n. 4, p. 559, doi. 10.1007/s00401-015-1474-4
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- Article
Neurodegeneration: An expansion in ALS genetics.
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- 2010
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- Publication type:
- Opinion
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1309, doi. 10.1038/ng1677
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- Publication type:
- Article
Phenotypic Suppression of ALS/FTD-Associated Neurodegeneration Highlights Mechanisms of Dysfunction.
- Published in:
- Journal of Neuroscience, 2019, v. 39, n. 42, p. 8217, doi. 10.1523/JNEUROSCI.1159-19.2019
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- Publication type:
- Article
Wild-type FUS corrects ALS-like disease induced by cytoplasmic mutant FUS through autoregulation.
- Published in:
- Molecular Neurodegeneration, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13024-021-00477-w
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- Publication type:
- Article
Wild-type FUS corrects ALS-like disease induced by cytoplasmic mutant FUS through autoregulation.
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- Molecular Neurodegeneration, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13024-021-00477-w
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- Publication type:
- Article
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 8, p. 2439, doi. 10.1093/brain/awq181
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- Article
SPG11 spastic paraplegia.
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- Journal of Neurology, 2009, v. 256, n. 1, p. 104, doi. 10.1007/s00415-009-0083-3
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- Publication type:
- Article
Mutant Huntingtin promotes autonomous microglia activation via myeloid lineage-determining factors.
- Published in:
- Nature Neuroscience, 2014, v. 17, n. 4, p. 513, doi. 10.1038/nn.3668
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- Article
Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs.
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- Nature Neuroscience, 2012, v. 15, n. 11, p. 1488, doi. 10.1038/nn.3230
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- Publication type:
- Article
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.
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- Nature Neuroscience, 2011, v. 14, n. 4, p. 459, doi. 10.1038/nn.2779
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- Article
AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders.
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- Annals of Neurology, 2006, v. 59, n. 3, p. 527
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- Article
Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 678, doi. 10.1002/mgg3.325
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- Publication type:
- Article