Nicolas J. Abreu

Pediatric Neurology | Pediatrics | Neurology

222 E 41st St
New York, NY 10017

Last Updated: 09/26/2026

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Found 31 publications

Neurofilament light chain (NfL) as a surrogate outcome measure for GM2 gangliosidoses.

Neurofilament light chain (NfL) as a surrogate outcome measure for GM2 gangliosidoses.

Journal: Journal of neurology

Published: April 27, 2026

Long-term real-world safety and effectiveness of arimoclomol in individuals with NPC: Outcomes from the US early access program over a 4-year period.

Long-term real-world safety and effectiveness of arimoclomol in individuals with NPC: Outcomes from the US early access program over a 4-year period.

Journal: Molecular genetics and metabolism

Published: April 13, 2026

Pearls and Oy-sters: Chronic Progressive External Ophthalmoplegia With Electrical Myotonia and Negative Initial Genetic Testing.

Pearls and Oy-sters: Chronic Progressive External Ophthalmoplegia With Electrical Myotonia and Negative Initial Genetic Testing.

Journal: Neurology

Published: October 17, 2025

Causes of Diplopia, Strabismus Patterns, and Ocular Motor Features in Patients With Spinocerebellar Ataxia Type 27B.

Causes of Diplopia, Strabismus Patterns, and Ocular Motor Features in Patients With Spinocerebellar Ataxia Type 27B.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Published: July 22, 2025

Research priorities for the neuronal ceroid lipofuscinoses.

Research priorities for the neuronal ceroid lipofuscinoses.

Journal: The Lancet. Neurology

Published: June 09, 2025

NDUFS8-Related Leigh Syndrome Mimicking a Leukodystrophy.

NDUFS8-Related Leigh Syndrome Mimicking a Leukodystrophy.

Journal: Journal of child neurology

Published: April 16, 2025

Novel C1A Domain Variant in Protein Kinase Cγ in Spinocerebellar Ataxia Type 14 Decreases Autoinhibition.

Novel C1A Domain Variant in Protein Kinase Cγ in Spinocerebellar Ataxia Type 14 Decreases Autoinhibition.

Journal: Cerebellum (London, England)

Published: March 07, 2025

Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A.

Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A.

Journal: Journal of human genetics

Published: February 03, 2025

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Published: August 15, 2024

Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.

Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 26, 2024

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: April 23, 2024

Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease.

Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease.

Journal: Journal of the neurological sciences

Published: February 27, 2024

Showing 1-12 of 31

Last Updated: 09/26/2026