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List of works by Rose-Mary Boustany

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

scientific article published on 01 January 2008

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

scientific article

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

scientific article published on August 2002

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

scientific article

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

scientific article published on 13 January 2018

Author response

Autism in Review

article

Biomarkers in psychiatry: how close are we?

scientific article published on January 2012

CLN3p impacts galactosylceramide transport, raft morphology, and lipid content

scientific article

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

scientific article

Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population.

scientific article published on 30 March 2017

Ceramide center stage in progressive myoclonus epilepsies

scientific article published on 01 August 2014

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

scientific article (publication date: March 1998)

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

scientific article

Common causes of uncommon seizures

scientific article

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

scientific article published on 15 February 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).

scientific article published on 7 November 2017

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

scientific article published on 7 November 2017

Exogenous Flupirtine as Potential Treatment for CLN3 Disease

scientific article published on 11 August 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

scientific article

Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses

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

scientific article published on 30 May 2015

Gene expression profiling of breast cancer in Lebanese women

scientific article

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

scientific article published on 01 June 1995

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

scientific article published on September 2004

Isolation of a novel gene underlying batten disease, CLN3

article

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3

scientific article published on 29 November 2020

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

scientific article

Linkage analysis in juvenile neuronal ceroid lipofuscinosis

scientific article published on February 1992

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

scientific article published on January 1994

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

scientific article

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

scientific article published on 28 November 2018

Morvan syndrome following B-cell lymphoma

scientific article published on 28 January 2010

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

scientific article

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

scientific article published in June 1999

Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse ⬇️

scientific article published on December 21, 2001

Neuronal ceroid lipofuscinosis: a common pathway?

scientific article published on February 2007

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

scientific article

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

scientific article

Postnatal Neural Stem Cells in Treating Traumatic Brain Injury

scientific article published in January 2016

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

scientific article published on 13 August 2019

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

scientific article published on 12 September 2015

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

scientific article

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

scientific article

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

scholarly article

Systems biology, bioinformatics, and biomarkers in neuropsychiatry

scientific article published on 24 December 2012

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

scientific article published in February 2002

The CLN9 protein, a regulator of dihydroceramide synthase.

scientific article

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

scientific article published on 01 May 1990

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

scientific article published on 4 December 2017

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