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Dominant Negative Mechanism Underlies Autosomal Dominant Stargardt-like Macular Dystrophy Linked to Mutations in ELOVL4

The Journal of biological chemistry, 2005-09, Vol.280 (37), p.32521-32530

2005

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Capturing seizures in clinical trials of antiseizure medications for KCNQ2‐DEE

Epilepsia open, 2021-03, Vol.6 (1), p.38-44

2021

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Apolipoprotein B100 secretion by cultured ARPE-19 cells is modulated by alteration of cholesterol levels

Journal of neurochemistry, 2010-09, Vol.114 (6), p.1734-1744

2010

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Evaluating the Epidemiological Burden of KCNQ2 Epilepsy (5169)

Neurology, 2021-04, Vol.96 (15_supplement)

2021

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An Online Survey of Caregivers of Patients with SCN8A-related epilepsy (4940)

Neurology, 2020-04, Vol.94 (15_supplement)

2020

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Reliable Count of Seizures using Diaries versus Video Electroencephalography for Seizures of KCNQ2-DEE (4934)

Neurology, 2020-04, Vol.94 (15_supplement)

2020

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An Online Survey of Caregivers of Patients with KCNQ2 Developmental & Epileptic Encephalopathy (KCNQ2-DEE) (4775)

Neurology, 2020-04, Vol.94 (15_supplement)

2020

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Relationship Between Genetic Variants and Disease Characteristics in Patients with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE) or SCN8A-Related Epilepsy (1598)

Neurology, 2021-04, Vol.96 (15_supplement)

2021

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Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey

Seizure (London, England), 2022-04, Vol.97, p.50-57

2022

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Discovery of XEN445: A potent and selective endothelial lipase inhibitor raises plasma HDL-cholesterol concentration in mice

Bioorganic & medicinal chemistry, 2013-12, Vol.21 (24), p.7724-7734

2013

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Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3

Human molecular genetics, 2002-11, Vol.11 (24), p.3065-3074

2002

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Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells

Human molecular genetics, 2000-07, Vol.9 (12), p.1873-1879

2000

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No rare deleterious variants from STK32B , PPARGC1A , and CTNNA3 are associated with essential tremor

Neurology. Genetics, 2017-10, Vol.3 (5), p.e195-e195

2017

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Unfolding retinal dystrophies: a role for molecular chaperones?

Trends in Molecular Medicine, 2001-09, Vol.7 (9), p.414-421

2001

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Delineation of the Plasma Membrane Targeting Domain of the X-Linked Retinitis Pigmentosa Protein RP2

Investigative ophthalmology & visual science, 2002-06, Vol.43 (6), p.2015-2020

2002

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Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

Human molecular genetics, 2000-08, Vol.9 (13), p.1919-1926

2000

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Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting

Biochemical journal, 2003-06, Vol.372 (Pt 2), p.427-433

2003

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Assay and Functional Analysis of the ARL3 Effector RP2 Involved in X‐Linked Retinitis Pigmentosa

Methods in Enzymology, 2005, Vol.404, p.468-480

2005

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Functional analyses of RP2, a novel retinal degeneration protein

Grayson, Celene

2003

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Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

Human genetics, 1999-05, Vol.104 (5), p.410-411

1999

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Significant reductions in methicillin‐resistant Staphylococcus aureus bacteraemia and clinical isolates associated with a multisite, hand hygiene culture‐change program and subsequent successful statewide roll‐out

Medical journal of Australia, 2008-06, Vol.188 (11), p.633-640

2008

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Dominant Negative Mechanism Underlies Autosomal Dominant Stargardt-like Macular Dystrophy Linked to Mutations in ELOVL4

Capturing seizures in clinical trials of antiseizure medications for KCNQ2‐DEE

Apolipoprotein B100 secretion by cultured ARPE-19 cells is modulated by alteration of cholesterol levels

Evaluating the Epidemiological Burden of KCNQ2 Epilepsy (5169)

An Online Survey of Caregivers of Patients with SCN8A-related epilepsy (4940)

Reliable Count of Seizures using Diaries versus Video Electroencephalography for Seizures of KCNQ2-DEE (4934)

An Online Survey of Caregivers of Patients with KCNQ2 Developmental & Epileptic Encephalopathy (KCNQ2-DEE) (4775)

Relationship Between Genetic Variants and Disease Characteristics in Patients with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE) or SCN8A-Related Epilepsy (1598)

Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey

Discovery of XEN445: A potent and selective endothelial lipase inhibitor raises plasma HDL-cholesterol concentration in mice

Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells

No rare deleterious variants from STK32B , PPARGC1A , and CTNNA3 are associated with essential tremor

Unfolding retinal dystrophies: a role for molecular chaperones?

Delineation of the Plasma Membrane Targeting Domain of the X-Linked Retinitis Pigmentosa Protein RP2

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting

Assay and Functional Analysis of the ARL3 Effector RP2 Involved in X‐Linked Retinitis Pigmentosa

Functional analyses of RP2, a novel retinal degeneration protein

Exclusion of RAI2 as the causative gene for Nance-Horan syndrome

Significant reductions in methicillin‐resistant Staphylococcus aureus bacteraemia and clinical isolates associated with a multisite, hand hygiene culture‐change program and subsequent successful statewide roll‐out

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