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| 36995002 | Whole-exome screening for primary congenital glaucoma in Lebanon. | Ophthalmic Genet | 2023 |
| 37386251 | Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. | Nat Genet | 2023 |
| 33251926 | KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3. | Ophthalmic Genet | 2021 |
| 33839117 | LINE-1 methylation mediates the inverse association between body mass index and breast cancer risk: A pilot study in the Lebanese population. | Environ Res | 2021 |
| 34324539 | Amblyopia risk factors among pediatric patients in a hospital-based setting using photoscreening. | PLoS One | 2021 |
| 34204158 | A Signature of Four Circulating microRNAs as Potential Biomarkers for Diagnosing Early-Stage Breast Cancer. | Int J Mol Sci | 2021 |
| 33433017 | LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact. | Mov Disord | 2021 |
| 32796515 | Exogenous Flupirtine as Potential Treatment for CLN3 Disease. | Cells | 2020 |
| 33006978 | Sex differences in gene expression with galactosylceramide treatment in Cln3οex7/8 mice. | PLoS One | 2020 |
| 30487245 | MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive <i>c</i>erebellar, <i>o</i>cular, cranio<i>f</i>acial and <i>g</i>enital features (COFG syndrome). | J Med Genet | 2019 |
| 31456741 | Pre- and Post-therapy Assessment of Clinical Outcomes and White Matter Integrity in Autism Spectrum Disorder: Pilot Study. | Front Neurol | 2019 |
| 31545863 | Eye Tracking Abnormalities in School-Aged Children With Strabismus and With and Without Amblyopia. | J Pediatr Ophthalmol Strabismus | 2019 |
| 31393621 | Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease. | Ann Neurol | 2019 |
| 30837943 | Developmental Comparison of Ceramide in Wild-Type and <i>Cln3</i> <sup>ο<i>ex7</i>/<i>8</i></sup> Mouse Brains and Sera. | Front Neurol | 2019 |
| 31170734 | Outcome of Nonketotic Hyperglycinemia in Lebanon: 14-Year Retrospective Review. | Neuropediatrics | 2019 |
| 29126932 | Docosahexaenoic acid (DHA) enhances the therapeutic potential of neonatal neural stem cell transplantation post-Traumatic brain injury. | Behav Brain Res | 2018 |
| 30250865 | Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses. | Ann Clin Transl Neurol | 2018 |
| 29450835 | Correction to: Association of Autism with Maternal Infections, Perinatal and Other Risk Factors: A Case-Control Study. | J Autism Dev Disord | 2018 |
| 29332178 | Association of Autism with Maternal Infections, Perinatal and Other Risk Factors: A Case-Control Study. | J Autism Dev Disord | 2018 |
| 29203780 | microRNA Expression in Ethnic Specific Early Stage Breast Cancer: an Integration and Comparative Analysis. | Sci Rep | 2017 |
| 28358038 | Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population. | Sci Rep | 2017 |
| 29110485 | Discovery of Aromatic Carbamates that Confer Neuroprotective Activity by Enhancing Autophagy and Inducing the Anti-Apoptotic Protein B-Cell Lymphoma 2 (Bcl-2). | J Med Chem | 2017 |
| 26742492 | RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. | Sci Rep | 2016 |
| 30452150 | AUTISM IN REVIEW. | J Med Liban | 2016 |
| 26362151 | Prevalence of Autism Spectrum Disorder in Nurseries in Lebanon: A Cross Sectional Study. | J Autism Dev Disord | 2016 |
| 27604746 | Postnatal Neural Stem Cells in Treating Traumatic Brain Injury. | Methods Mol Biol | 2016 |
| 27857161 | Gene expression profiling of breast cancer in Lebanese women. | Sci Rep | 2016 |
| 26026149 | Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. | Elife | 2015 |
| 26528430 | Association between CLN3 (Neuronal Ceroid Lipofuscinosis, CLN3 Type) Gene Expression and Clinical Characteristics of Breast Cancer Patients. | Front Oncol | 2015 |
| 25041902 | Ceramide center stage in progressive myoclonus epilepsies. | Ann Neurol | 2014 |
| 23316174 | Biomarkers in psychiatry: how close are we? | Front Psychiatry | 2013 |
| 23938739 | Lysosomal storage diseases--the horizon expands. | Nat Rev Neurol | 2013 |
| 22701626 | Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. | PLoS One | 2012 |
| 23161464 | Neuroproteomics approach and neurosystems biology analysis: ROCK inhibitors as promising therapeutic targets in neurodegeneration and neurotrauma. | Electrophoresis | 2012 |
| 23160995 | CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. | Electrophoresis | 2012 |
| 23269912 | Systems biology, bioinformatics, and biomarkers in neuropsychiatry. | Front Neurosci | 2012 |
| 20110220 | Morvan syndrome following B-cell lymphoma. | J Child Neurol | 2010 |
| 19589454 | Common causes of uncommon seizures. | Pediatr Neurol | 2009 |
| 18166709 | A 23-year-old man with seizures and visual deficit. | Neurology | 2008 |
| 18689679 | Synergistic control of T cell development and tumor suppression by diacylglycerol kinase alpha and zeta. | Proc Natl Acad Sci U S A | 2008 |
| 18317235 | CLN3p impacts galactosylceramide transport, raft morphology, and lipid content. | Pediatr Res | 2008 |
| 17237713 | Neuronal ceroid lipofuscinosis: a common pathway? | Pediatr Res | 2007 |
| 17718866 | Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease. | Clin Genet | 2007 |
| 16303764 | The CLN9 protein, a regulator of dihydroceramide synthase. | J Biol Chem | 2006 |
| 16857350 | Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology. | Biochim Biophys Acta | 2006 |
| 16151633 | Cell death pathways in juvenile Batten disease. | Apoptosis | 2005 |
| 15349861 | Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. | Ann Neurol | 2004 |
| 15240864 | A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes. | Pediatr Res | 2004 |
| 12796825 | Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. | J Neurol | 2003 |
| 12673792 | Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. | Hum Mutat | 2003 |