Martina Marinello
1bis, Rue De L'Internationale
Evry, 91000, France
Evry, 91000, France
Last Updated: 09/26/2026
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Found 14 publications
Death following high-dose AAV9 gene therapy in a patient with advanced SMA-PME.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: November 21, 2025
Therapeutic perspectives for lysosomal storage disorders caused by acid ceramidase deficiency
Journal: Medecine sciences : M/S
Published: November 18, 2024
Spastin regulates ER-mitochondrial contact sites and mitochondrial homeostasis.
Journal: iScience
Published: October 10, 2023
Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy.
Journal: Journal of visualized experiments : JoVE
Published: December 27, 2021
SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models.
SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models.
Journal: Disease models & mechanisms
Published: June 26, 2018
Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice.
Journal: Journal of neuropathology and experimental neurology
Published: February 07, 2018
Deregulation of autophagy in postmortem brains of Machado-Joseph disease patients.
Journal: Neuropathology : official journal of the Japanese Society of Neuropathology
Published: August 02, 2017
Spastin regulates VAMP7-containing vesicles trafficking in cortical neurons.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: December 13, 2016
Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins.
Journal: Molecular neurodegeneration
Published: December 12, 2015
Corrigendum: Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7.
Journal: Nature structural & molecular biology
Published: March 05, 2015
Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7.
Journal: Nature structural & molecular biology
Published: February 08, 2014
The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice.
Journal: Acta neuropathologica
Published: July 04, 2013
Last Updated: 09/26/2026