Natalia Dominik

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

Andreas Traschütz, Andrea Cortese, Selina Reich et al. · Neurology · 2021 · 159 citations · Full text

<i>RFC1</i> expansions are a common cause of idiopathic sensory neuropathy

Riccardo Curró, Alessandro Salvalaggio, Stefano Tozza et al. · Brain · 2021 · 128 citations · Full text

Neurological Disorder, Diagnosis, Neuropathic Pain +22

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Carolin K. Scriba, Sarah J. Beecroft, Joshua S. Clayton et al. · Brain · 2020 · 92 citations · Full text

Neurodegenerative Diseases, Serum Creatine Kinase, Mendelian Disorder +13

Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis

Natalia Dominik, Stefania Magri, Riccardo Curró et al. · Brain · 2023 · 66 citations · Full text

Disease Progression, Immunodeficiencies, Genetics +21

An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy

Alistair T. Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou et al. · Brain · 2020 · 53 citations · Full text