
Last Updated: 09/26/2026
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Found 79 publications
Altered neuronal start codon stringency favors cap-independent repeat-associated non-AUG translation.
Journal: bioRxiv : the preprint server for biology
Published: August 01, 2026
Bi- and Mono-Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy.
Journal: Annals of clinical and translational neurology
Published: February 27, 2026
Translation of expanded CGG repeats in LRP12 associated oculopharyngodistal myopathy.
Journal: Acta neuropathologica communications
Published: December 21, 2025
Cryptic intronic transcriptional initiation generates efficient endogenous mRNA templates for C9orf72-associated RAN translation.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: August 04, 2025
Heterozygous and Homozygous RFC1 AAGGG Repeat Expansions are Common in Idiopathic Peripheral Neuropathy.
Journal: medRxiv : the preprint server for health sciences
Published: May 02, 2025
Homozygous RFC1 AAGGG Repeat Expansions Are Common in Idiopathic Peripheral Neuropathy.
Journal: Annals of neurology
Published: April 11, 2025
AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS neurons.
Journal: Science advances
Published: September 04, 2024
TDP43 autoregulation gives rise to shortened isoforms that are tightly controlled by both transcriptional and post-translational mechanisms.
Journal: bioRxiv : the preprint server for biology
Published: July 15, 2024
TDP43 autoregulation gives rise to dominant negative isoforms that are tightly controlled by transcriptional and post-translational mechanisms.
Journal: Cell reports
Published: July 09, 2024
Enhanced Detection and Genotyping of Disease-Associated Tandem Repeats Using HMMSTR and Targeted Long-Read Sequencing.
Journal: medRxiv : the preprint server for health sciences
Published: May 15, 2024
AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons.
Journal: bioRxiv : the preprint server for biology
Published: January 03, 2024
Last Updated: 09/26/2026