Isabel Silveira
Porto, 4200135, Portugal
Last Updated: 09/26/2026
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Found 23 publications
Embryonic spinocerebellar ataxia type 37-associated AUUUC repeat RNA causes neurodevelopmental defects.
Journal: Disease models & mechanisms
Published: August 27, 2025
The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.
Journal: Cell reports
Published: August 19, 2025
Advances in Nucleotide Repeat Expansion Diseases: Transcription Gets in Phase.
Journal: Cells
Published: February 08, 2023
Pentanucleotide repeat-related disorders: Genetics and bioinformatic discovery and detection.
Journal: Epilepsia
Published: December 02, 2022
Lipoplexes and polyplexes as nucleic acids delivery nanosystems: The current state and future considerations.
Journal: Expert opinion on drug delivery
Published: May 09, 2022
Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: February 24, 2022
Antisense Transcription across Nucleotide Repeat Expansions in Neurodegenerative and Neuromuscular Diseases: Progress and Mysteries.
Journal: Genes
Published: October 30, 2020
Joining European Scientific Forces to Face Pandemics.
Journal: Trends in microbiology
Published: September 04, 2020
A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37.
Journal: Journal of human genetics
Published: February 16, 2018
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Journal: American journal of human genetics
Published: March 17, 2017
Last Updated: 09/26/2026