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List of works by Marta Nardella

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

scientific article

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation

scientific article published on 10 April 2017

Differentiation of Caco-2 cells requires both transcriptional and post-translational down-regulation of Myc.

scientific article published on 20 November 2011

Down-regulation of the Lamin A/C in neuroblastoma triggers the expansion of tumor initiating cells.

scientific article published on 3 September 2015

Human placenta-derived neurospheres are susceptible to transformation after extensive in vitro expansion

scientific article

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

scientific article published on 8 July 2017

LMNA knock-down affects differentiation and progression of human neuroblastoma cells

scientific article

MYCN gene expression is required for the onset of the differentiation programme in neuroblastoma cells.

scientific article published on 20 February 2014

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

scientific article published on 30 November 2016

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia

scientific article published on 23 February 2018

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