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N- WASP is required for Amphiphysin-2/ BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 11, p. 1455, doi. 10.15252/emmm.201404436
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- Article
Neuropathology of FMR1‐premutation carriers presenting with dementia and neuropsychiatric symptoms: Human neuropathology/other.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.044916
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- Article
CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3.
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- Nucleic Acids Research, 2010, v. 38, n. 20, p. 7273, doi. 10.1093/nar/gkq573
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- Article
Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders.
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- EMBO Journal, 2020, v. 39, n. 4, p. 1, doi. 10.15252/embj.2018100574
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- Article
Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy.
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- Nature Structural & Molecular Biology, 2011, v. 18, n. 7, p. 840, doi. 10.1038/nsmb.2067
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- Article
FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome.
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- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0162-2
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- Article
A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.
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- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0166-y
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- Article
Decreased <i>DGCR8</i> Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome.
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- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0103884
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- Article
Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers.
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- Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0579-0
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- Article
Distribution of Parkinson's disease associated RAB39B in mouse brain tissue.
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- Molecular Brain, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13041-020-00584-7
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- Article
Curcumin Regulates the r(CGG)<sup>exp</sup> RNA Hairpin Structure and Ameliorate Defects in Fragile X-Associated Tremor Ataxia Syndrome.
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- Frontiers in Neuroscience, 2020, p. 1, doi. 10.3389/fnins.2020.00295
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- Article
Loss of C9 ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.
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- EMBO Journal, 2016, v. 35, n. 12, p. 1276, doi. 10.15252/embj.201593350
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- Article
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients.
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- EMBO Journal, 2010, v. 29, n. 7, p. 1248, doi. 10.1038/emboj.2010.21
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- Article
RNA polymerase II bypass of oxidative DNA damage is regulated by transcription elongation factors.
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- EMBO Journal, 2006, v. 25, n. 23, p. 5481, doi. 10.1038/sj.emboj.7601403
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- Article
A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest.
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- Human Reproduction, 2023, v. 38, n. 2, p. 306, doi. 10.1093/humrep/deac259
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- Article
Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.
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- Human Molecular Genetics, 2015, v. 24, n. 17, p. 4948, doi. 10.1093/hmg/ddv216
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- Article
A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.
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- Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 5, p. 683, doi. 10.1007/s10815-017-0900-z
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- Article
PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD.
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- Acta Neuropathologica, 2022, v. 144, n. 5, p. 939, doi. 10.1007/s00401-022-02494-5
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- Article
Erratum to: Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons.
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- 2014
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- Erratum
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 3, p. 385, doi. 10.1007/s00401-013-1149-y
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- Article
Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.843014
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- Article
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04370-x
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- Article
5′-End RET Splicing: Absence of Variants in Normal Tissues and Intron Retention in Pheochromocytomas.
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- Oncology, 2002, v. 63, n. 1, p. 84, doi. 10.1159/000065725
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- Article
Relative Expression of the RET9 and RET51 Isoforms in Human Pheochromocytomas.
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- Oncology, 2000, v. 58, n. 4, p. 311, doi. 10.1159/000012118
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- Article
Les myopathies oculo-pharyngo-distales : des nouvelles maladies à expansions de répétitions CGG.
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- Cahiers de Myologie, 2022, n. 25, p. 23, doi. 10.1051/myolog/202225006
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- Article
Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect.
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- Genes, 2020, v. 11, n. 4, p. 1, doi. 10.3390/genes11040382
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- Article