Lina Ghaloul-Gonzalez

Lina Ghaloul-Gonzalez

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Lina Ghaloul-Gonzalez

Lina Ghaloul-Gonzalez

Publications by authors named "Lina Ghaloul-Gonzalez"

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10Publications

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ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts.

Sci Rep 2019 Sep 2;9(1):12651. Epub 2019 Sep 2.

Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600-Anexo, CEP 90035-003, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1038/s41598-019-49014-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6718683PMC
September 2019

Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation.

Genes Immun 2019 07 6;20(6):520-526. Epub 2018 Jul 6.

Department of Critical Care Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1038/s41435-018-0030-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320733PMC
July 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

Medium chain acyl-CoA dehydrogenase deficiency in a premature infant.

Pediatr Rep 2017 Nov 21;9(4):7045. Epub 2017 Nov 21.

Division of Medical Genetics, Children's Hospital of Pittsburgh, PA, USA.

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http://dx.doi.org/10.4081/pr.2017.7045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733391PMC
November 2017

Mitochondrial respiratory chain disorders in the Old Order Amish population.

Mol Genet Metab 2016 08 16;118(4):296-303. Epub 2016 Jun 16.

Department of Pediatrics, School of Medicine, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2016.06.005DOI Listing
August 2016

Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster.

Am J Med Genet A 2014 Mar 17;164A(3):810-4. Epub 2014 Jan 17.

Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, Pennsylvania; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36359DOI Listing
March 2014