Nicolas J Abreu - JoVE Visualize

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Pediatric Pulmonology|September 5, 2020

Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophyNicolas J Abreu, Megan A Waldrop

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 30, 2021

Editorial commentary on "Gait phenotype in Batten disease: A marker of disease progression"Nicolas J Abreu, Emily C de Los Reyes

Pediatric Neurology|November 8, 2023

Factors Associated With Underutilization of Genetic Testing in Autism Spectrum DisordersNicolas J Abreu, Madeline Chiujdea, Shanshan Liu, et al.

Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|August 15, 2024

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body DiseaseAndrew G Dugue, Nicolas J Abreu, Cinthi Pillai, et al.

Journal of Child Neurology|April 16, 2025

<i>NDUFS8</i>-Related Leigh Syndrome Mimicking a LeukodystrophyBailyn Hogue, Mekka R Garcia, Connolly G Steigerwald, et al.

Neurology|July 5, 2023

Pearls & Oy-sters: <i>CSF1R</i>-Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple SclerosisAarushi Jain, Vito P Arena, Connolly Steigerwald, et al.

Journal of Human Genetics|May 2, 2025

Autism and intellectual disability due to a novel gain-of-function mutation in UBE3AAnna M Gunelson, Kwang-Soo Kim, Connolly G Steigerwald, et al.

Neurology|October 17, 2025

Pearls and Oy-sters: Chronic Progressive External Ophthalmoplegia With Electrical Myotonia and Negative Initial Genetic TestingBrian Y Li, Julia H Greenberg, Connolly Steigerwald, et al.

Cerebellum (London, England)|March 18, 2025

Novel C1A Domain Variant in Protein Kinase Cγ in Spinocerebellar Ataxia Type 14 Decreases AutoinhibitionGayatri Raj Ghosh, Tiffany H Kao, Connolly G Steigerwald, et al.

Journal of the Neurological Sciences|August 9, 2024

Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body diseaseGenevieve E Wilson, Deberah S Goldman, Harriet Saxe, et al.

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Showing results (1-10 of 23) with videos related to

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Pediatric Pulmonology|September 5, 2020

Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophyNicolas J Abreu, Megan A Waldrop

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 30, 2021

Editorial commentary on "Gait phenotype in Batten disease: A marker of disease progression"Nicolas J Abreu, Emily C de Los Reyes

Pediatric Neurology|November 8, 2023

Factors Associated With Underutilization of Genetic Testing in Autism Spectrum DisordersNicolas J Abreu, Madeline Chiujdea, Shanshan Liu, et al.

Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|August 15, 2024

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body DiseaseAndrew G Dugue, Nicolas J Abreu, Cinthi Pillai, et al.

Journal of Child Neurology|April 16, 2025

<i>NDUFS8</i>-Related Leigh Syndrome Mimicking a LeukodystrophyBailyn Hogue, Mekka R Garcia, Connolly G Steigerwald, et al.

Neurology|July 5, 2023

Pearls & Oy-sters: <i>CSF1R</i>-Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple SclerosisAarushi Jain, Vito P Arena, Connolly Steigerwald, et al.

Journal of Human Genetics|May 2, 2025

Autism and intellectual disability due to a novel gain-of-function mutation in UBE3AAnna M Gunelson, Kwang-Soo Kim, Connolly G Steigerwald, et al.

Neurology|October 17, 2025

Pearls and Oy-sters: Chronic Progressive External Ophthalmoplegia With Electrical Myotonia and Negative Initial Genetic TestingBrian Y Li, Julia H Greenberg, Connolly Steigerwald, et al.

Cerebellum (London, England)|March 18, 2025

Novel C1A Domain Variant in Protein Kinase Cγ in Spinocerebellar Ataxia Type 14 Decreases AutoinhibitionGayatri Raj Ghosh, Tiffany H Kao, Connolly G Steigerwald, et al.

Journal of the Neurological Sciences|August 9, 2024

Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body diseaseGenevieve E Wilson, Deberah S Goldman, Harriet Saxe, et al.

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