List of works - Michela Ripolone

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

scientific article

Autophagy as a new therapeutic target in Duchenne muscular dystrophy

scientific article published on 15 November 2012

Autophagy as a new therapeutic target in Duchenne muscular dystrophy.

scientific article

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

scientific article published on 2 June 2017

Erratum: Autophagy as a new therapeutic target in Duchenne muscular dystrophy

scholarly article published in Cell Death and Disease

Glycogen storage disease type III: A novel Agl knockout mouse model.

scientific article

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

scientific article published on June 2015

Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy

scientific article published on 08 April 2022

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

scientific article published on 8 April 2009

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

scientific article

Novel CLN3 mutation causing autophagic vacuolar myopathy

scientific article

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

scientific article published on 6 January 2017

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.

scientific article

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation

scientific article published in December 2016

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

scientific article

USP8, a Regulator of Endosomal Sorting, Is Involved in Mouse Acrosome Biogenesis Through Interaction with the Spermatid ESCRT-0 Complex and Microtubules1

scientific article published on 03 February 2010

cAMP-Epac2-mediated activation of Rap1 in developing male germ cells: RA-RhoGAP as a possible direct down-stream effector

scientific article published on 01 April 2009

List of works by Michela Ripolone

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

Autophagy as a new therapeutic target in Duchenne muscular dystrophy

Autophagy as a new therapeutic target in Duchenne muscular dystrophy.

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

Erratum: Autophagy as a new therapeutic target in Duchenne muscular dystrophy

Glycogen storage disease type III: A novel Agl knockout mouse model.

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Novel CLN3 mutation causing autophagic vacuolar myopathy

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

USP8, a Regulator of Endosomal Sorting, Is Involved in Mouse Acrosome Biogenesis Through Interaction with the Spermatid ESCRT-0 Complex and Microtubules1

cAMP-Epac2-mediated activation of Rap1 in developing male germ cells: RA-RhoGAP as a possible direct down-stream effector