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A Signature of Four Circulating microRNAs as Potential Biomarkers for Diagnosing Early-Stage Breast Cancer

International journal of molecular sciences, 2021-06, Vol.22 (11), p.6121

2021

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Amblyopia risk factors among pediatric patients in a hospital-based setting using photoscreening

PloS one, 2021-07, Vol.16 (7), p.e0254831

2021

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Synergistic control of T cell development and tumor suppression by diacylglycerol kinase α and ζ

Proceedings of the National Academy of Sciences - PNAS, 2008-08, Vol.105 (33), p.11909-11914

2008

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

American journal of human genetics, 2002-02, Vol.70 (2), p.324-335

2002

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The CLN9 Protein, a Regulator of Dihydroceramide Synthase

The Journal of biological chemistry, 2006-02, Vol.281 (5), p.2784-2794

2006

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Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population

Scientific reports, 2017-03, Vol.7 (1), p.45336-45336, Article 45336

2017

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

Journal of pediatric ophthalmology and strabismus, 2019-09, Vol.56 (5), p.297-304

2019

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Common Causes of Uncommon Seizures

Pediatric neurology, 2009-08, Vol.41 (2), p.83-87

2009

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Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia

American journal of human genetics, 2001-05, Vol.68 (5), p.1077-1085

2001

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

Annals of neurology, 2002-04, Vol.51 (4), p.448-466

2002

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CLN3p Impacts Galactosylceramide Transport, Raft Morphology, and Lipid Content

Pediatric research, 2008-06, Vol.63 (6), p.625-631

2008

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Neuronal ceroid lipofuscinosis : A common pathway?

Pediatric research, 2007-02, Vol.61 (2), p.146-152

2007

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

Human mutation, 2003-05, Vol.21 (5), p.502-508

2003

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

Human molecular genetics, 2002-09, Vol.11 (18), p.2129-2142

2002

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Isolation of a novel gene underlying batten disease, CLN3

Cell, 1995-01, Vol.82 (6), p.949-957

1995

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

Pediatric research, 2004-09, Vol.56 (3), p.449-463

2004

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Psychiatric Comorbidities in Common Genetic Disorders with Physical Disability

Pediatric health, 2010-12, Vol.4 (6), p.591-601

2010

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Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia

Neurogenetics, 2001-03, Vol.3 (2), p.91-97

2001

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

Neurogenetics, 1998-03, Vol.1 (3), p.217-222

1998

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Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Genetics in medicine, 2024-09, p.101278, Article 101278

2024

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Genetic Mapping of the Batten Disease Locus (CLN3) to the Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic Association

Genomics (San Diego, Calif.), 1994-07, Vol.22 (2), p.465-468

1994

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Genetic cause of a juvenile form of tay-sachs disease in a lebanese child

Annals of neurology, 1991-01, Vol.29 (1), p.104-107

1991

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

Pediatric neurology, 1990-05, Vol.6 (3), p.177-183

1990

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

Proceedings of the National Academy of Sciences - PNAS, 2008-08, Vol.105 (33), p.11909

2008

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Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia

American journal of medical genetics, 1995-08, Vol.60 (4), p.307-311

1995

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A Signature of Four Circulating microRNAs as Potential Biomarkers for Diagnosing Early-Stage Breast Cancer

Amblyopia risk factors among pediatric patients in a hospital-based setting using photoscreening

Synergistic control of T cell development and tumor suppression by diacylglycerol kinase α and ζ

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

The CLN9 Protein, a Regulator of Dihydroceramide Synthase

Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population

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

Common Causes of Uncommon Seizures

Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia

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

CLN3p Impacts Galactosylceramide Transport, Raft Morphology, and Lipid Content

Neuronal ceroid lipofuscinosis : A common pathway?

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

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

Isolation of a novel gene underlying batten disease, CLN3

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

Psychiatric Comorbidities in Common Genetic Disorders with Physical Disability

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia

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

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Genetic Mapping of the Batten Disease Locus (CLN3) to the Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic Association

Genetic cause of a juvenile form of tay-sachs disease in a lebanese child

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

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

Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia

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