Clarissa Rocca

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 222 citations · Full text

Increased frequency of repeat expansion mutations across different populations

Kristina Ibáñez, Bharati Jadhav, Matteo Zanovello et al. · Nature Medicine · 2024 · 53 citations · Full text

Allelic Variant, Natural Sciences, Genetics +7

Adaptive Long‐Read Sequencing Reveals <scp>GGC</scp> Repeat Expansion in <scp><i>ZFHX3</i></scp> Associated with Spinocerebellar Ataxia Type 4

Zhongbo Chen, Emil K. Gustavsson, Hannah Macpherson et al. · Movement Disorders · 2024 · 45 citations · Full text

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Paulina Cunha, Emilien Petit, Marie Coutelier et al. · The American Journal of Human Genetics · 2023 · 28 citations · Full text

Brain Structure, Neurological Disorder, Neuroanatomy +6

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Heba Morsy, Mehdi Benkirane, Elisa Calì et al. · Genetics in Medicine · 2022 · 25 citations · Full text

Neurological Disorder, Spastic Paraplegia, From Epileptic Encephalopathy +6