Lista de obras -

A 23-year-old man with seizures and visual deficit

artículo científico publicado en 2008

A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes

artículo científico publicado en 2004

Allopregnanolone attenuates N-methyl-D-aspartate-induced excitotoxicity and apoptosis in the human NT2 cell line in culture.

artículo científico publicado en 2002

Association between CLN3 (Neuronal Ceroid Lipofuscinosis, CLN3 Type) Gene Expression and Clinical Characteristics of Breast Cancer Patients

artículo científico publicado en 2015

Association of Autism with Maternal Infections, Perinatal and Other Risk Factors: A Case-Control Study

artículo científico publicado en 2018

Author response

Autism in Review

article

Biomarkers in psychiatry: how close are we?

artículo científico publicado en 2012

CLN3p impacts galactosylceramide transport, raft morphology, and lipid content

artículo científico publicado en 2008

CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.

artículo científico publicado en 2012

Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population.

artículo científico publicado en 2017

Ceramide center stage in progressive myoclonus epilepsies

artículo científico publicado en 2014

Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis

artículo científico publicado en 1998

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

artículo científico publicado en 2003

Common causes of uncommon seizures

artículo científico publicado en 2009

Correction to: Association of Autism with Maternal Infections, Perinatal and Other Risk Factors: A Case-Control Study.

artículo científico publicado en 2018

Developmental Comparison of Ceramide in Wild-Type and Mouse Brains and Sera

Discovery of Aromatic Carbamates that Confer Neuroprotective Activity by Enhancing Autophagy and Inducing the Anti-Apoptotic Protein B-Cell Lymphoma 2 (Bcl-2).

artículo científico publicado en 2017

Docosahexaenoic acid (DHA) enhances the therapeutic potential of neonatal neural stem cell transplantation post-Traumatic brain injury

artículo científico publicado en 2017

Exogenous Flupirtine as Potential Treatment for CLN3 Disease

artículo científico publicado en 2020

Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease

scientific article published on 28 August 2019

Eye Tracking Abnormalities in School-Aged Children With Strabismus and With and Without Amblyopia

scientific article published on 01 September 2019

Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons

artículo científico publicado en 2002

Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

artículo científico publicado en 2015

Gene expression profiling of breast cancer in Lebanese women

artículo científico publicado en 2016

Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL)

artículo científico publicado en 1995

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

artículo científico publicado en 2004

Isolation of a novel gene underlying batten disease, CLN3

article

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3

artículo científico publicado en 2020

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system

artículo científico publicado en 2012

Linkage analysis in juvenile neuronal ceroid lipofuscinosis

artículo científico publicado en 1992

Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.

artículo científico publicado en 1994

Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16

artículo científico publicado en 1993

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

artículo científico publicado en 2018

Morvan syndrome following B-cell lymphoma

artículo científico publicado en 2010

Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis

artículo científico publicado en 2002

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder

artículo científico publicado en 1999

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

artículo científico publicado en 2002

Neuronal ceroid lipofuscinosis: a common pathway?

artículo científico publicado en 2007

Neuroproteomics approach and neurosystems biology analysis: ROCK inhibitors as promising therapeutic targets in neurodegeneration and neurotrauma

artículo científico publicado en 2012

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

artículo científico publicado en 2003

Postnatal Neural Stem Cells in Treating Traumatic Brain Injury

artículo científico publicado en 2016

Pre- and Post-therapy Assessment of Clinical Outcomes and White Matter Integrity in Autism Spectrum Disorder: Pilot Study

artículo científico publicado en 2019

Prevalence of Autism Spectrum Disorder in Nurseries in Lebanon: A Cross Sectional Study

artículo científico publicado en 2015

RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.

artículo científico publicado en 2016

Sex differences in gene expression with galactosylceramide treatment in Cln3Δex7/8 mice

scientific article published on 02 October 2020

Spectrum of mutations in the Batten disease gene, CLN3

artículo científico publicado en 1997

Synergistic control of T cell development and tumor suppression by diacylglycerol kinase alpha and zeta

artículo científico publicado en 2008

Systems biology, bioinformatics, and biomarkers in neuropsychiatry

artículo científico

The CLN3 gene is a novel molecular target for cancer drug discovery.

artículo científico publicado en 2002

The CLN9 protein, a regulator of dihydroceramide synthase.

artículo científico publicado en 2005

Ultrastructural findings in skin from patients with Niemann-Pick disease, type C

artículo científico publicado en 1990

microRNA Expression in Ethnic Specific Early Stage Breast Cancer: an Integration and Comparative Analysis

artículo científico publicado en 2017

Lista de obras de

A 23-year-old man with seizures and visual deficit

A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes

Allopregnanolone attenuates N-methyl-D-aspartate-induced excitotoxicity and apoptosis in the human NT2 cell line in culture.

Association between CLN3 (Neuronal Ceroid Lipofuscinosis, CLN3 Type) Gene Expression and Clinical Characteristics of Breast Cancer Patients

Association of Autism with Maternal Infections, Perinatal and Other Risk Factors: A Case-Control Study

Author response

Autism in Review

Biomarkers in psychiatry: how close are we?

CLN3p impacts galactosylceramide transport, raft morphology, and lipid content

CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches.

Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population.

Ceramide center stage in progressive myoclonus epilepsies

Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

Common causes of uncommon seizures

Correction to: Association of Autism with Maternal Infections, Perinatal and Other Risk Factors: A Case-Control Study.

Developmental Comparison of Ceramide in Wild-Type and Mouse Brains and Sera

Discovery of Aromatic Carbamates that Confer Neuroprotective Activity by Enhancing Autophagy and Inducing the Anti-Apoptotic Protein B-Cell Lymphoma 2 (Bcl-2).

Docosahexaenoic acid (DHA) enhances the therapeutic potential of neonatal neural stem cell transplantation post-Traumatic brain injury

Exogenous Flupirtine as Potential Treatment for CLN3 Disease

Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease

Eye Tracking Abnormalities in School-Aged Children With Strabismus and With and Without Amblyopia

Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons

Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

Gene expression profiling of breast cancer in Lebanese women

Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL)

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

Isolation of a novel gene underlying batten disease, CLN3

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system

Linkage analysis in juvenile neuronal ceroid lipofuscinosis

Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.

Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Morvan syndrome following B-cell lymphoma

Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

Neuronal ceroid lipofuscinosis: a common pathway?

Neuroproteomics approach and neurosystems biology analysis: ROCK inhibitors as promising therapeutic targets in neurodegeneration and neurotrauma

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

Postnatal Neural Stem Cells in Treating Traumatic Brain Injury

Pre- and Post-therapy Assessment of Clinical Outcomes and White Matter Integrity in Autism Spectrum Disorder: Pilot Study

Prevalence of Autism Spectrum Disorder in Nurseries in Lebanon: A Cross Sectional Study

RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.

Sex differences in gene expression with galactosylceramide treatment in Cln3Δex7/8 mice

Spectrum of mutations in the Batten disease gene, CLN3

Synergistic control of T cell development and tumor suppression by diacylglycerol kinase alpha and zeta

Systems biology, bioinformatics, and biomarkers in neuropsychiatry

The CLN3 gene is a novel molecular target for cancer drug discovery.

The CLN9 protein, a regulator of dihydroceramide synthase.

Ultrastructural findings in skin from patients with Niemann-Pick disease, type C

microRNA Expression in Ethnic Specific Early Stage Breast Cancer: an Integration and Comparative Analysis