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The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1768, doi. 10.1093/brain/awad410
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- Publication type:
- Article
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.
- Published in:
- Nature Genetics, 2015, v. 47, n. 8, p. 962, doi. 10.1038/ng0815-962b
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- Publication type:
- Article
II. Yeast sequencing reports. Analysis of a 70kb region on the right arm of yeast chromosome II.
- Published in:
- Yeast, 1994, v. 10, n. 10, p. 1363, doi. 10.1002/yea.320101014
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- Publication type:
- Article
Identification of a set of yeast genes coding for a novel family of putative ATPases with high similarity to constituents of the 26S protease complex.
- Published in:
- Yeast, 1994, v. 10, n. 9, p. 1141, doi. 10.1002/yea.320100903
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- Publication type:
- Article
DIT101 (CSD2, CAL1), a cell cycle-regulated yeast gene required for synthesis of chitin in cell walls and chitosan in spore walls.
- Published in:
- Yeast, 1992, v. 8, n. 12, p. 1089, doi. 10.1002/yea.320081211
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- Publication type:
- Article
Molecular analysis of yeast chromosome II between CMD1 and LYS2: The excision repair gene RAD16 located in this region belongs to a novel group of double-finger proteins.
- Published in:
- Yeast, 1992, v. 8, n. 5, p. 397, doi. 10.1002/yea.320080507
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- Publication type:
- Article
Molecular cloning of CIF1, a yeast gene necessary for growth on glucose.
- Published in:
- Yeast, 1992, v. 8, n. 3, p. 183, doi. 10.1002/yea.320080304
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- Publication type:
- Article
A newly identified chromosomal microdeletion and an N‐box mutation of the AChRε gene cause a congenital myasthenic syndrome.
- Published in:
- Brain: A Journal of Neurology, 2002, v. 125, n. 5, p. 1005, doi. 10.1093/brain/awf095
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- Publication type:
- Article
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1131, doi. 10.3233/JND-240050
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- Publication type:
- Article
MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 1, p. 182, doi. 10.1111/cge.13462
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- Publication type:
- Article
Highly Significant Antiviral Activity of HIV-1 LTR-Specific Tre-Recombinase in Humanized Mice.
- Published in:
- PLoS Pathogens, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.ppat.1003587
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- Publication type:
- Article
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3418, doi. 10.1093/hmg/ddv090
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- Publication type:
- Article
Targeted HIV-1 Latency Reversal Using CRISPR/Cas9-Derived Transcriptional Activator Systems.
- Published in:
- PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0158294
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- Publication type:
- Article
Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice
- Published in:
- Molecular Therapy, 2003, v. 8, n. 1, p. 80, doi. 10.1016/S1525-0016(03)00129-1
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- Publication type:
- Article
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. E831, doi. 10.1002/humu.21063
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- Publication type:
- Article
Cytochrome c oxidasedeficiency due to mutations in SCO2, encoding amitochondrial copper-binding protein, is rescued by copper in humanmyoblasts.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 26, p. 3025, doi. 10.1093/hmg/10.26.3025
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- Publication type:
- Article
Genomic integration of adenoviral gene transfer vectors following transduction of fertilized mouse oocytes.
- Published in:
- Transgenic Research, 2011, v. 20, n. 1, p. 123, doi. 10.1007/s11248-010-9401-x
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- Publication type:
- Article
Different Patterns of Transposable Elements in the Vicinity of tRNA Genes in Yeast: a Possible Clue to Transcriptional Modulation.
- Published in:
- Biological Chemistry, 1985, v. 366, n. 2, p. 1041
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- Publication type:
- Article