Jabr_2016_2

Jorge Alfredo Bevilacqua Rivas

Profesor Titular

UNIVERSIDAD DE CHILE, FACULTAD DE MEDICINA, ESCUELA DE MEDICINA

Santiago, Chile

Líneas de Investigación


1.- Neuromuscular Disorders; 2.- Muscular Pathology; 3.- Clinical Neurology; ENFERMEDADES NEUROMUSCULARES; TRASTONOS MOTORES Y DEL MOVIMIENTO; NEUROLOGIA PEDIATRICA; EVOLUTION, DEVELOPMENT AND GENETICS OF BEHAVIOR; ETHOLOGY OF NEUROLOGICAL MUTANTS; SENSORIAL WORLD OF PATIENTS WITH PSYCHIATRIC DISORDERS

Educación

  •  Médico, UNLP. Argentina, 1989
  •  Neurobiología, University of Wales. Reino Unido, 1994
  •  Médico Cirujano, UNIVERSIDAD DE CHILE. Chile, 1995
  •  Neurólogo Adultos, UNIVERSIDAD DE CHILE. Chile, 2001
  •  Diploma en Miología, UNIVERSITE PIERRE ET MARIE CURIE-PARIS VI. Francia, 2006
  •  Electrofisiología Clínica, EMG y VCN, UNIVERSIDAD DE CHILE. Chile, 2004

Experiencia Académica

  •   Profesor Titular Part Time

    UNIVERSIDAD DE CHILE

    Medicina

    Santiago, Chile

    Enero 2001 - A la fecha

  •   Ayudante Part Time

    UNIVERSIDAD DE BUENOS AIRES

    Medicina

    Buenos Aires CABA, Argentina

    Enero 1990 - Enero 1991

  •   Ayudante Part Time

    UNIVERSIDAD NACIONAL DE LA PLATA

    Ciencias Médicas

    La Plata, Argentina

    Enero 1985 - Enero 1991

  •   Ayudante Part Time

    UNIVERSIDAD NACIONAL DE LA PLATA

    Ciencias Médicas

    La Plata, Argentina

    Enero 1987 - Enero 1990

  •   Instructor Part Time

    University of Wales

    Medicine

    Cardiff, Reino Unido

    Enero 1992 - Enero 1994

  •   Profesor Asistente Part Time

    UNIVERSIDAD DE SANTIAGO DE CHILE

    Ciencias Médicas

    Santiago, Chile

    Enero 1995 - Enero 1998

  •   Profesor Asistente Part Time

    UNIVERSIDAD DE SANTIAGO DE CHILE

    Ciencias Médicas

    Santiago, Chile

    Enero 1995 - Enero 1996

  •   Profesor Titular Part Time

    UNIVERSIDAD DE CHILE

    Medicina

    Santiago, Chile

    Enero 1996 - A la fecha

Experiencia Profesional

  •   Neurólogo, Electrofisiólogo, Patólogo Muscular Part Time

    Clinica Davila

    Santiago, Chile

    Enero 2010 - A la fecha

  •   Neurólogo, Electrofisiólogo Part Time

    Clínica Avansalud Providencia

    Santiago, Chile

    Enero 2007 - Enero 2010

  •   Neurólogo Other

    Centro Médico Farr, San Bernardo

    Santiago, Chile

    Enero 2001 - Enero 2007


Tipos de Producción
 

Journal Article (38)

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells
Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy
Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy
Broadening the imaging phenotype of dysferlinopathy at different disease stages
The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes
TOWARD AN OBJECTIVE MEASURE OF FUNCTIONAL DISABILITY IN DYSFERLINOPATHY
Activating PIK3CA Somatic Mutation in Congenital Unilateral Isolated Muscle Overgrowth of the Upper Extremity
Dynamin-2 in nervous system disorders
MUSCLE MAGNETIC RESONANCE IMAGING AND HISTOPATHOLOGY IN ACTA1-RELATED CONGENITAL NEMALINE MYOPATHY
Dynamin-2 Function and Dysfunction Along the Secretory Pathway.
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation.
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
Myotonic distrophy type I (Steinert Disease) and pregnancy. A clinical case description Distrofi a miotónica tipo I (Enfermedad de Steinert) y embarazo. Descripción de un caso clínico
"Necklace"" fibers, a new histological marker of late-onset MTM1- related centronuclear myopathy"
"Reply: ""Necklace"" fibers and ""trilaminar"" fibers are different"
A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.
Analysis of the DYSF Mutational Spectrum in a Large Cohort of Patients
Dynamin 2 Mutations Associated With Human Diseases Impair Clathrin-Mediated Receptor Endocytosis
Dysferlinopathy in Chile: Evidence of Two Novel Mutations in the First Reported Cases
Necklace fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
Dynamin 2 mutations cause sporadic centronuclear myropathy with neonatal onset
Chiari type I malformation in a patient with bulbar onset amyotrophic lateral sclerosis
Alcohol and hemorrhagic stroke in Santiago, Chile - A case-control study
[Disulfiram neuropathy. Report of 3 cases].
Disulfiram neuropathy. Report of three cases
Disulfiram neuropathy. Report of three cases Neuropatía por disulfiram. Comunicación de tres casos clínicos
Fibroelastoma of the mitral valve--a curable cause of stroke.
Muscarinic M1 receptors activate phosphoinositide turnover and Ca2+ mobilisation in rat sympathetic neurones, but this signalling pathway does not mediate M-current inhibition.
Cerebral spinal fluid shunt is an immunologically privileged site for transplantation of xenogeneic islets.
Transiently selective activation of phosphoinositide turnover in layer V pyramidal neurons after specific mGluRs stimulation in rat somatosensory cortex during early postnatal development.
Visualization of agonist-stimulated inositol phospholipid turnover in individual neurons of the rat cerebral cortex and hippocampus.
Visualization of receptor coupled phosphoinositide turnover in single neurons and a glial cell line in culture.
Effects of growth hormone and thyroxine on thymulin secretion in aging rats.
Localisation of agonist stimulated CMP-phosphatidate accumulation in single mammalian neurones.
[Chiari type I malformation in a patient with bulbar onset amyotrophic lateral sclerosis].
[Spontaneous bilateral hypertensive haemorrhage of the basal ganglia. Something more than Charcot-Bouchard aneurysms?].

Abstract (7)

A novel de novo mutation in ACTA1 causes a congenital myopathy with misleading type 1 fiber predominance and a peculiar MRI
Clinical and genetic characterization of a cohort of 30 Chilean patients with dysferlinopathy
PIK3CA somatic mutation in congenital monomelic muscular hypertrophy of the upper extremity. Case report
Whole body MRI study in 27 genetically confirmed Chilean patients with dysferlinopathy
Dynamin 2 mutations in the pleckstrin homology domain cause severe neonatal centronuclear myopathy
Centronuclear myopathy: clinical and morphological phenotype/genotype correlations
Normal distribution of Ins(1,4,5)P3 receptors is disrupted in Duchenne muscular dystrophy

Letter (3)

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation
Reply: "Necklace" fibers and "trilaminar" fibers are different
Spontaneous bilateral hypertensive haemorrhage of the basal ganglia. Something more than Charcot-Bouchard aneurysms?

Editorial Material (2)

A NEW CENTRONUCLEAR MYOPATHY PHENOTYPE DUE TO A NOVEL DYNAMIN 2 MUTATION
Fibroelastoma of the mitral valve - a curable cause of stroke

Book Whole (1)

Congenital myopathies

Case Report (1)

Distrofia miotónica tipo I (Enfermedad de Steinert) y embarazo: Descripción de un caso clínico

Review (1)

Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies
2
Enrique Jaimovich

Full Professor

ICBM

FACULTAD DE MEDICINA, UNIVERSIDAD DE CHILE

Santiago, Chile

2
Julio Cardenas

Assistant Professor

Anatomy and Developmental Biology

University of Chile

Santiago, Chile

2
Pablo Caviedes

Full professor

ICBM

PROGRAMA DE FARMACOLOGÍA MOLECULAR Y CLÍNICA, ICBM, FAC. DE MEDICINA, U. DE CHILE

Santiago, Chile

1
Lilian Jara

Titular Professor

Human Molecular Genetic

UNIVERSIDAD DE CHILE / FACULTAD DE MEDICINA

Santiago, Chile

1
Ricardo Hartley

Académico

Universidad Central de Chile

Santiago, Chile

1
Luis Cea

Profesor Asistente

Instituto de Ciencias Biomédicas

Universidad de Chile

Santiago, Chile