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List of works by Antonia Ratti

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

scientific article

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

scientific article

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

scientific article

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

scientific article published in October 2021

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

scientific article published on 31 May 2016

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scientific article

C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation

scientific article published on 18 November 2021

Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases.

scientific article published on 28 February 2018

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis

scientific article published on 01 August 2018

No association of DPP6 with amyotrophic lateral sclerosis in an Italian population

article

Response to the commentary "The effect of C9orf72 intermediate repeat expansions in neurodegenerative and autoimmune diseases" by Biasiotto G and Zanella I.

scientific article published on 14 October 2018

SUMOylation Regulates TDP-43 Splicing Activity and Nucleocytoplasmic Distribution

scientific article published on 14 August 2021

mRNA distribution in adult human brain of GRIN2B, a N-methyl-d-aspartate (NMDA) receptor subunit ⬇️

scientific article published on December 12, 1997

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