Marta Nardella

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

Lorena Travaglini, Marta Nardella, Emanuele Bellacchio et al. · European Journal of Paediatric Neurology · 2016 · 55 citations

Life Sciences, Genetics, Molecular Genetics +9

Age and sex prevalence estimate of Joubert syndrome in Italy

Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino et al. · Neurology · 2020 · 47 citations · Full text

Medicine, Neurology, Pediatrics +13

Heterozygous missense variants of <i>SPTBN2</i> are a frequent cause of congenital cerebellar ataxia

Francesco Nicita, Marta Nardella, Emanuele Bellacchio et al. · Clinical Genetics · 2019 · 34 citations

Life Sciences, Genetics, Neurology +17

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome

Maria Lisa Dentici, Sabina Barresi, Marta Nardella et al. · Gene · 2017 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect

Mattia Vicario, Tito Calí, Domenico Cieri et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2017 · 20 citations

Life Sciences, Genetics, Molecular Genetics +8