Nicolas J. Abreu

发表

Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy

M. Waldrop, Nicolas J. Abreu, 2020, Pediatric pulmonology.

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes

W. Wiszniewski, A. Antonellis, Stefan Nicolau, 2022, Human mutation.

Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy

M. Waldrop, Nicolas J. Abreu, 2020, Pediatric pulmonology.

Cerliponase alfa for CLN2 disease, a promising therapy

E. De Los Reyes, J. Pindrik, S. Aylward, 2020 .

Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2

D. Koboldt, J. Gastier-Foster, K. Flanigan, 2019, American journal of medical genetics. Part A.

Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB.

K. Flanigan, K. McNally, K. McBride, 2021, Molecular genetics and metabolism.

Barriers to Genetic Testing Faced by Pediatric Subspecialists in Autism Spectrum Disorders

S. Spence, Madeline Chiujdea, Nicolas J. Abreu, 2022, Advances in Neurodevelopmental Disorders.

Two cases of MT-ND5-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder

I. Kister, C. Riley, M. Hirano, 2023, Multiple Sclerosis.

Emerging Subspecialties in Neurology: Neurodevelopmental disabilities

M. Asato, Nicolas J. Abreu, D. Urion, 2020, Neurology.

Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction

Mai‐Lan Ho, R. Kirschner, S. Hickey, 2022, Clinical case reports.

Hereditary Optic Neuropathies: An Updated Review

Nicolas J. Abreu, S. Grossman, Samuel K. Lee, 2024, Journal of Clinical & Translational Ophthalmology.

Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders.

Nicolas J. Abreu, Madeline Chiujdea, Shanshan Liu, 2023, Pediatric neurology.

Developmental skills and neurorehabilitation for children with Batten disease: A Retrospective chart review of a comprehensive Batten clinic

Rachel Bican, Nicolas J. Abreu, Emily C. de los Reyes, 2023, Pediatric Neurology.

Editorial commentary on "Gait phenotype in Batten disease: A marker of disease progression".

E. De Los Reyes, Nicolas J. Abreu, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.