about
Novel CLN3 mutation causing autophagic vacuolar myopathy.The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.Autophagy as a new therapeutic target in Duchenne muscular dystrophyAutophagy as a new therapeutic target in Duchenne muscular dystrophy.Glycogen storage disease type III: A novel Agl knockout mouse model.Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).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.Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation.Erratum: Autophagy as a new therapeutic target in Duchenne muscular dystrophyPurkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1USP8, a Regulator of Endosomal Sorting, Is Involved in Mouse Acrosome Biogenesis Through Interaction with the Spermatid ESCRT-0 Complex and Microtubules1cAMP-Epac2-mediated activation of Rap1 in developing male germ cells: RA-RhoGAP as a possible direct down-stream effector
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description
onderzoeker
@nl
researcher
@en
հետազոտող
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name
M Ripolone
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M Ripolone
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M Ripolone
@es
M Ripolone
@nl
type
label
M Ripolone
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M Ripolone
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M Ripolone
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M Ripolone
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M Ripolone
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M Ripolone
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M Ripolone
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M Ripolone
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P106
P1153
22953942100
P31
P496
0000-0001-9293-6823