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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.
- Published in:
- Human Genetics, 2023, v. 142, n. 12, p. 1747, doi. 10.1007/s00439-023-02611-8
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- Article
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4217, doi. 10.1093/brain/awad148
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- Article
Staufen Impairs Autophagy in Neurodegeneration.
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- Annals of Neurology, 2023, v. 93, n. 2, p. 398, doi. 10.1002/ana.26515
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- Article
The alternative initiation factor eIF2A plays key role in RAN translation of myotonic dystrophy type 2 CCUG•CAGG repeats.
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- Human Molecular Genetics, 2021, v. 30, n. 11, p. 1020, doi. 10.1093/hmg/ddab098
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- Article
Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice.
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- Human Molecular Genetics, 2020, v. 29, n. 24, p. 3900, doi. 10.1093/hmg/ddaa279
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- Article
Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood.
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- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15962-x
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- Article
SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.
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- EMBO Journal, 2018, v. 37, n. 19, p. 1, doi. 10.15252/embj.201899023
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- Article
A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.
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- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0173565
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- Article
Mutant β-III Spectrin Causes mGluR1α Mislocalization and Functional Deficits in a Mouse Model of Spinocerebellar Ataxia Type 5.
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- Journal of Neuroscience, 2014, v. 34, n. 30, p. 9891, doi. 10.1523/JNEUROSCI.0876-14.2014
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- Article
Compound loss of muscleblind-like function in myotonic dystrophy.
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- EMBO Molecular Medicine, 2013, v. 5, n. 12, p. 1887, doi. 10.1002/emmm.201303275
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- Article
Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise.
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- Human Molecular Genetics, 2012, v. 21, n. 21, p. 4645, doi. 10.1093/hmg/dds306
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- Article
Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.
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- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 567, doi. 10.1038/ejhg.2010.233
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- Article
Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13).
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- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017811
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- Article
Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila.
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- Journal of Cell Biology, 2010, v. 189, n. 1, p. 143, doi. 10.1083/jcb.200905158
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- Article
RNA Gain-of-Function in Spinocerebellar Ataxia Type 8.
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- PLoS Genetics, 2009, v. 5, n. 8, p. 1, doi. 10.1371/journal.pgen.1000600
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- Article
SNP Haplotype Mapping in a Small ALS Family.
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- PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005687
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- Article
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.
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- Nature Genetics, 2006, v. 38, n. 7, p. 758, doi. 10.1038/ng1827
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- Article
Spectrin mutations cause spinocerebellar ataxia type 5.
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- Nature Genetics, 2006, v. 38, n. 2, p. 184, doi. 10.1038/ng1728
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- Article
Molecular genetics of spinocerebellar ataxia type 8 (SCA8).
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- Cytogenetic & Genome Research, 2003, v. 100, n. 1-4, p. 175, doi. 10.1159/000072852
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- Article
Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7.
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- Human Molecular Genetics, 1999, v. 8, n. 9, p. 1657, doi. 10.1093/hmg/8.9.1657
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- Article
Genetic mapping of a second myotonic dystrophy locus.
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- Nature Genetics, 1998, v. 19, n. 2, p. 196, doi. 10.1038/570
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- Article
Extragenic Suppression and Synthetic Lethality Among Chlamydomonas reinhardtii Mutants Resistant to Anti-Microtubule Drugs.
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- Genetics, 1989, v. 122, n. 3, p. 567
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- Article
Mapping Flagellar Genes in Chlamydomonas Using Restriction Fragment Length Polymorphisms.
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- Genetics, 1988, v. 120, n. 1, p. 109
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- Article
Mutants Resistant to Anti-Microtubule Herbicides Map to a Locus on the uni Linkage Group in Chlamydomonas reinhardtii.
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- Genetics, 1988, v. 118, n. 1, p. 141
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- Article