A pedigree study of metachromatic leukodystrophy. Biochemical identification of the carrier state

L-carnitine supplementation in childhood epilepsy: current perspectives.

Epilepsia·1998

A comparison of rectal diazepam gel and placebo for acute repetitive seizures.

The New England journal of medicine·1998

Epilepsies with partial seizures in childhood.

Journal of child neurology·1998

Lamotrigine in childhood epilepsies.

Seminars in pediatric neurology·1997

Epilepsy: standards of medical care.

Medicine and law·1997

Valproic acid hepatic fatalities. III. U.S. experience since 1986.

Neurology·1996

Quantitative Relationship Between Lumipulse G Measures of pTau217 in Plasma and the Temporal Cortex.

Neurology·2026

Dual Antiglutamate Therapy in Super-Refractory Status Epilepticus After Cardiac Arrest (SUPER-CAT Study).

Neurology·2026

What Is the Role of the Locus Coeruleus in Sleep, Cerebrovascular Control, and Glymphatic Clearance?

Neurology·2026

Ofatumumab vs Ocrelizumab in Relapsing-Remitting Multiple Sclerosis: A Nationwide Cohort Study.

Neurology·2026

Medium-Term Cognitive Outcome in Patients With CNS Lymphomas Treated With Chimeric Antigen Receptor T-Cell Therapy.

Neurology·2026

Association of Skin Denervation With Brain Atrophy and Cognitive Impairment in Patients With Parkinson Disease.

Neurology·2026

Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis.

Nature communications·2026

High-resolution genomic architecture of a 1.71-Mb inverted SNCA triplication in a patient-derived PARK4 model.

Biochemical and biophysical research communications·2026

Mathematical Model to Assess Mutational Burden in Retinal Dystrophy Patients Negative to Mendelian Genetic Tests and Carriers of Multiple Recessive Variants.

Journal of ophthalmic & vision research·2026

A heritability-optimized method for functional prioritization of rare coding variants in complex traits.

Nature genetics·2026

WFS1 Deficiency Impairs PIAS4-Associated SUMOylation and Increases Ubiquitin-Mediated Spermatogenesis-Related Protein Degradation Leading to Testicular Male Infertility.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

Founder mutations in movement disorders: global distribution, molecular mechanisms, and clinical consequences-a scoping review.

Neurogenetics·2026

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A pedigree study of metachromatic leukodystrophy. Biochemical identification of the carrier state

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L-carnitine supplementation in childhood epilepsy: current perspectives.

A comparison of rectal diazepam gel and placebo for acute repetitive seizures.

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Epilepsy: standards of medical care.

Valproic acid hepatic fatalities. III. U.S. experience since 1986.

Quantitative Relationship Between Lumipulse G Measures of pTau217 in Plasma and the Temporal Cortex.

Dual Antiglutamate Therapy in Super-Refractory Status Epilepticus After Cardiac Arrest (SUPER-CAT Study).

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Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis.

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