Paola Rinchetti
Milan, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 17 publications
RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: January 06, 2025
Depletion of Mettl3 in cholinergic neurons causes adult-onset neuromuscular degeneration.
Journal: Cell reports
Published: May 01, 2023
Brain Calcifications: Genetic, Molecular, and Clinical Aspects.
Journal: International journal of molecular sciences
Published: March 01, 2023
The SMN Complex at the Crossroad between RNA Metabolism and Neurodegeneration.
Journal: International journal of molecular sciences
Published: December 03, 2022
SMN post-translational modifications in spinal muscular atrophy.
Journal: Frontiers in cellular neuroscience
Published: November 08, 2022
Retromer dysfunction in amyotrophic lateral sclerosis.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 24, 2022
SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation.
Journal: Autophagy
Published: July 21, 2020
Sumoylation regulates the assembly and activity of the SMN complex.
Journal: Nature communications
Published: June 22, 2020
Systematic elucidation of neuron-astrocyte interaction in models of amyotrophic lateral sclerosis using multi-modal integrated bioinformatics workflow.
Journal: Nature communications
Published: July 25, 2019
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.
Journal: Parkinsonism & related disorders
Published: October 02, 2018
MicroRNA Metabolism and Dysregulation in Amyotrophic Lateral Sclerosis.
Journal: Molecular neurobiology
Published: February 09, 2017
Last Updated: 09/26/2026