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Neuromyelitis optica spectrum disorder and myelin oligodendrocyte glycoprotein associated disorder-optic neuritis: a comprehensive review of diagnosis and treatment

Eye (London), 2021-03, Vol.35 (3), p.753-768

2021

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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

American journal of human genetics, 2012-03, Vol.90 (3), p.457-466

2012

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At this junction

Survey of ophthalmology, 2022-11, Vol.67 (6), p.1711-1716

2022

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Continuous Hypoxia Reduces Retinal Ganglion Cell Degeneration in a Mouse Model of Mitochondrial Optic Neuropathy

Investigative ophthalmology & visual science, 2022-12, Vol.63 (13), p.21-21

2022

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Telemedicine and Child Neurology

Journal of child neurology, 2019-01, Vol.34 (1), p.22-26

2019

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Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.178-192

2021

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Progressive optic atrophy in a retinal ganglion cell-specific mouse model of complex I deficiency

Scientific reports, 2020-10, Vol.10 (1), p.16326-16326, Article 16326

2020

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Pathology of inherited manganese transporter deficiency

Annals of neurology, 2014-04, Vol.75 (4), p.608-612

2014

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Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations

Human mutation, 2015-09, Vol.36 (9), p.881-893

2015

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Facilitative glucose transporter Glut1 is actively excluded from rod outer segments

Journal of cell science, 2010-11, Vol.123 (21), p.3639-3644

2010

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Adverse Effects of War and Armed Conflict on Children

Pediatric neurology, 2022-05, Vol.130, p.69-70

2022

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Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy

Annals of neurology, 2014-01, Vol.75 (1), p.22-32

2014

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Anatomic and visual function outcomes in paediatric idiopathic intracranial hypertension

British journal of ophthalmology, 2016-04, Vol.100 (4), p.505-509

2016

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Withholding Childhood Immunizations: A Parent’s Right or a Child’s Neglect?

Pediatric neurology, 2020-12, Vol.113, p.80-81

2020

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Severe Leber Hereditary Optic Neuropathy Plus Disease in a Middle-Aged Man

Journal of neuro-ophthalmology, 2021-12, Vol.41 (4), p.e715-e717

2021

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QUANTITATIVE TOPOGRAPHIC CURVATURE MAPS OF THE POSTERIOR EYE UTILIZING OPTICAL COHERENCE TOMOGRAPHY

Retina (Philadelphia, Pa.), 2021-04, Vol.41 (4), p.804

2021

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Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

Molecular genetics and metabolism, 2011-09, Vol.104 (1-2), p.48-60

2011

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Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry

European journal of pediatrics, 2009-06, Vol.168 (6), p.697-704

2009

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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

American journal of human genetics, 2016-08, Vol.99 (2), p.521-521

2016

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A single valine residue plays an essential role in peripherin/rds targeting to photoreceptor outer segments

PloS one, 2013-01, Vol.8 (1), p.e54292-e54292

2013

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Developmental outcome in pyridoxine-dependent epilepsy: Better late (onset) than early

European journal of paediatric neurology, 2018-07, Vol.22 (4), p.575-576

Gospe, Sidney M.

2018

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Spectral-Domain Optical Coherence Tomography of the Vitreopapillary Interface in Acute Nonarteritic Anterior Ischemic Optic Neuropathy

American journal of ophthalmology, 2018-11, Vol.195, p.199-208

2018

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Papilledema and Combined Central Retinal Artery and Central Retinal Vein Occlusion as a Manifestation of Behçet Disease

Journal of neuro-ophthalmology, 2023-07, Vol.44 (3), p.e371

2023

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Neuromyelitis optica spectrum disorder and myelin oligodendrocyte glycoprotein associated disorder-optic neuritis: a comprehensive review of diagnosis and treatment

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

At this junction

Continuous Hypoxia Reduces Retinal Ganglion Cell Degeneration in a Mouse Model of Mitochondrial Optic Neuropathy

Telemedicine and Child Neurology

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Progressive optic atrophy in a retinal ganglion cell-specific mouse model of complex I deficiency

Pathology of inherited manganese transporter deficiency

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy

Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations

Facilitative glucose transporter Glut1 is actively excluded from rod outer segments

Adverse Effects of War and Armed Conflict on Children

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy

Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy

Anatomic and visual function outcomes in paediatric idiopathic intracranial hypertension

Withholding Childhood Immunizations: A Parent’s Right or a Child’s Neglect?

Severe Leber Hereditary Optic Neuropathy Plus Disease in a Middle-Aged Man

QUANTITATIVE TOPOGRAPHIC CURVATURE MAPS OF THE POSTERIOR EYE UTILIZING OPTICAL COHERENCE TOMOGRAPHY

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

A single valine residue plays an essential role in peripherin/rds targeting to photoreceptor outer segments

Developmental outcome in pyridoxine-dependent epilepsy: Better late (onset) than early

Spectral-Domain Optical Coherence Tomography of the Vitreopapillary Interface in Acute Nonarteritic Anterior Ischemic Optic Neuropathy

Papilledema and Combined Central Retinal Artery and Central Retinal Vein Occlusion as a Manifestation of Behçet Disease

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