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List of works by Jorge A Bevilacqua

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

scientific article

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation

scientific article published on 01 January 2009

Abnormal distribution of inositol 1,4,5-trisphosphate receptors in human muscle can be related to altered calcium signals and gene expression in Duchenne dystrophy-derived cells.

scientific article published on 15 April 2010

Analysis of the DYSF mutational spectrum in a large cohort of patients

scientific article published in February 2009

Cerebral spinal fluid shunt is an immunologically privileged site for transplantation of xenogeneic islets

scientific article published on 01 June 1997

Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests

scientific article published on 10 January 2019

Disulfiram neuropathy. Report of 3 cases

scientific article published in September 2002

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

scientific article published on 01 October 2009

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

scientific article published on 01 December 2007

Dynamin-2 function and dysfunction along the secretory pathway.

scientific article

Dynamin-2 in nervous system disorders.

scientific article published on 23 October 2013

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.

scientific article

Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases

scientific article published in February 2009

Effects of growth hormone and thyroxine on thymulin secretion in aging rats

scientific article published on 01 September 1993

Fibroelastoma of the mitral valve--a curable cause of stroke

scientific article

Idiopathic inflammatory myopathy human derived cells retain their ability to increase mitochondrial function

scientific article published on 20 November 2020

Localisation of agonist stimulated CMP-phosphatidate accumulation in single mammalian neurones

scientific article

Muscarinic M1 receptors activate phosphoinositide turnover and Ca2+ mobilisation in rat sympathetic neurones, but this signalling pathway does not mediate M-current inhibition

scientific article published in October 1999

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization ⬇️

scientific article published on April 1, 2011

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation

scientific article published on 01 February 2011

Transiently selective activation of phosphoinositide turnover in layer V pyramidal neurons after specific mGluRs stimulation in rat somatosensory cortex during early postnatal development

scientific article published on 01 December 1995

Visualization of agonist-stimulated inositol phospholipid turnover in individual neurons of the rat cerebral cortex and hippocampus

scientific article

[Chiari type I malformation in a patient with bulbar onset amyotrophic lateral sclerosis]

scientific article published on 01 February 2004

[Spontaneous bilateral hypertensive haemorrhage of the basal ganglia. Something more than Charcot-Bouchard aneurysms?]

scientific article published on 01 July 2005

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