Lista de obras - M Ripolone - Dominio Público Uruguay

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

artículo científico publicado en 2017

Autophagy as a new therapeutic target in Duchenne muscular dystrophy

artículo científico publicado en 2012

Autophagy as a new therapeutic target in Duchenne muscular dystrophy.

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico publicado en 2014

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2009

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

artículo científico publicado en 2012

Novel CLN3 mutation causing autophagic vacuolar myopathy

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

Lista de obras de M 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