Jorge A Bevilacqua

Jorge A Bevilacqua

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Jorge A Bevilacqua

Jorge A Bevilacqua

Publications by authors named "Jorge A Bevilacqua"

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24Publications

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

Muscle Nerve 2019 04 10;59(4):436-444. Epub 2019 Jan 10.

Neuromuscular Unit, Department of Neurology and Neurosurgery, University of Chile Clinical Hospital.

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http://dx.doi.org/10.1002/mus.26403DOI Listing
April 2019

Congenital Myasthenic Syndrome due to mutations in a family from Chile.

Eur J Transl Myol 2017 06 20;27(3):6832. Epub 2017 Sep 20.

Department of Neurology, University of California Davis, Davis CA, USA

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http://www.pagepressjournals.org/index.php/bam/article/view/
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http://dx.doi.org/10.4081/ejtm.2017.6832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5658635PMC
June 2017

Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies.

Exp Neurol 2016 09 25;283(Pt A):246-54. Epub 2016 Jun 25.

Programa de Farmacología Molecular y Clinica, ICBM, Facultad de Medicina, Universidad de Chile, Santiago, Chile.

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http://dx.doi.org/10.1016/j.expneurol.2016.06.026DOI Listing
September 2016

Broadening the imaging phenotype of dysferlinopathy at different disease stages.

Muscle Nerve 2016 08 26;54(2):203-10. Epub 2016 May 26.

Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile (HCUCH), Santos Dumont 999, 2 º piso, Sector E. Independencia, 8380456, Santiago, Chile.

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http://doi.wiley.com/10.1002/mus.25045
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http://dx.doi.org/10.1002/mus.25045DOI Listing
August 2016

The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes.

BMC Cell Biol 2016 05 24;17 Suppl 1:15. Epub 2016 May 24.

Programa de Farmacología Molecular y Clínica, Facultad de Medicina, Instituto de Ciencias Biomédicas, Universidad de Chile, Santiago, Chile.

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http://dx.doi.org/10.1186/s12860-016-0096-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4896263PMC
May 2016

Toward an objective measure of functional disability in dysferlinopathy.

Muscle Nerve 2016 Jan 23;53(1):49-57. Epub 2015 May 23.

Unidad Neuromuscular, Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santos Dumont 999, 2do. piso, Sector E. Independencia, 8380456, Santiago, Chile.

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http://dx.doi.org/10.1002/mus.24685DOI Listing
January 2016

Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.

Muscle Nerve 2014 Dec 30;50(6):1011-6. Epub 2014 Oct 30.

Unidad de Neurología. Departamento de Pediatría, Clínica las Condes, Lo Fontecilla 441, Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1002/mus.24353DOI Listing
December 2014

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.

Am J Med Genet A 2014 Sep 26;164A(9):2365-9. Epub 2014 Jun 26.

Unit of Neurology, Dept. of Pediatrics, Clínica Las Condes, Santiago, Chile.

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http://dx.doi.org/10.1002/ajmg.a.36651DOI Listing
September 2014

Dynamin-2 in nervous system disorders.

J Neurochem 2014 Jan 23;128(2):210-23. Epub 2013 Oct 23.

Centro Interdisciplinario de Neurociencia de Valparaíso, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile.

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http://dx.doi.org/10.1111/jnc.12455DOI Listing
January 2014

Dynamin-2 function and dysfunction along the secretory pathway.

Front Endocrinol (Lausanne) 2013 Sep 18;4:126. Epub 2013 Sep 18.

Facultad de Ciencias, Centro Interdisciplinario de Neurociencia de Valparaíso, Universidad de Valparaíso , Valparaíso , Chile.

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http://dx.doi.org/10.3389/fendo.2013.00126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776141PMC
September 2013

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.

FASEB J 2010 Sep 15;24(9):3210-21. Epub 2010 Apr 15.

Centro de Estudios Moleculares de la Célula, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Independencia 1027, Santiago 7, Chile.

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http://dx.doi.org/10.1096/fj.09-152017DOI Listing
September 2010

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

Hum Mutat 2009 Oct;30(10):1419-27

Institut National de la Santé et de la Recherche Médicale, U582, Institut de Myologie, Paris, France.

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http://dx.doi.org/10.1002/humu.21086DOI Listing
October 2009

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

Genet Test Mol Biomarkers 2009 Feb;13(1):105-8

Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, Santiago, Chile.

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http://dx.doi.org/10.1089/gtmb.2008.0091DOI Listing
February 2009

Alcohol and hemorrhagic stroke in Santiago, Chile. A case-control study.

Neuroepidemiology 2003 Nov-Dec;22(6):339-44

Department of Neurology and Neurosurgery, Hospital Clínico JJ Aguirre, Faculty of Medicine, University of Chile, Santiago, Chile.

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https://www.karger.com/Article/FullText/72923
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http://dx.doi.org/10.1159/000072923DOI Listing
December 2003

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

Lancet Neurol 2002 Oct;1(6):388-9

Departamento de Neurología y Neurocirugía, Hospital Clínico and the Programa de Morfología, ICBM, Facultad de Medicina, Universidad de Chile, Santiago, Chile.

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October 2002

[Disulfiram neuropathy. Report of 3 cases].

Rev Med Chil 2002 Sep;130(9):1037-42

Departamento de Neurología y Neurocirugía, Hospital Clínico Universidad de Chile, José Joaquín Aguirre, Programa de Morfología, ICBM, Facultad de Medicina, Universidad de Chile.

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September 2002