Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies

(2019) Matthis Synofzik et al.   NEURON

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

(2019) Andrea Cortese et al.   NATURE GENETICS

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

(2019) Haloom Rafehi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution

(2018) Joana R. Loureiro et al.   HUMAN MUTATION

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare

(2018) Sahar Al-Mahdawi et al.   Frontiers in Cellular Neuroscience

Unipro UGENE: a unified bioinformatics toolkit

(2012) Konstantin Okonechnikov et al.   BIOINFORMATICS