| Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy NJ Abreu, MA Waldrop Pediatric pulmonology 56 (4), 710-720, 2021 | 61 | 2021 |
| Leveraging a Sturge-Weber gene discovery: an agenda for future research AM Comi, M Sahin, A Hammill, EH Kaplan, C Juhász, P North, KL Ball, ... Pediatric neurology 58, 12-24, 2016 | 27 | 2016 |
| Large Retroperitoneal Liposarcoma Diagnosed upon Radiological Evaluation of Mild Right‐Sided Inguinal Hernia SK McKinley, N Abreu, E Patalas, A Chang Case Reports in Radiology 2013 (1), 187957, 2013 | 13 | 2013 |
| Establishing a role for polysomnography in hospitalized children N Tkachenko, K Singh, N Abreu, AM Morse, C Day, K Fitzgerald, ... Pediatric Neurology 57, 39-45. e1, 2016 | 7 | 2016 |
| Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes AP Meyer, ME Forrest, S Nicolau, W Wiszniewski, MP Bland, CY Tsao, ... Human mutation 43 (7), 869-876, 2022 | 6 | 2022 |
| Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB NJ Abreu, B Selvaraj, KV Truxal, M Moore-Clingenpeel, NA Zumberge, ... Molecular Genetics and Metabolism 133 (2), 193-200, 2021 | 6 | 2021 |
| Emerging subspecialties in neurology: neurodevelopmental disabilities NJ Abreu, DK Urion, MR Asato Neurology 95 (24), 1113-1115, 2020 | 5 | 2020 |
| Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2 NJ Abreu, DC Koboldt, JM Gastier‐Foster, A Dave‐Wala, KM Flanigan, ... American Journal of Medical Genetics Part A 182 (3), 557-560, 2020 | 5 | 2020 |
| Barriers to genetic testing faced by pediatric subspecialists in autism spectrum disorders NJ Abreu, M Chiujdea, SJ Spence Advances in Neurodevelopmental Disorders 7 (1), 59-65, 2023 | 4 | 2023 |
| Two cases of MT-ND5-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder SR Wilkins, AW Yu, C Steigerwald, K Tanji, AD Iglesias, M Hirano, I Kister, ... Multiple Sclerosis Journal 29 (7), 892-897, 2023 | 3 | 2023 |
| Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders NJ Abreu, M Chiujdea, S Liu, B Zhang, SJ Spence Pediatric Neurology 150, 17-23, 2024 | 2 | 2024 |
| Cerliponase alfa for CLN2 disease, a promising therapy SC Aylward, J Pindrik, NJ Abreu, WB Cherny, M O’Neal, E de Los Reyes Expert Opinion on Orphan Drugs 8 (11), 445-454, 2020 | 2 | 2020 |
| Severe Neurodevelopmental Phenotype, Diagnostic and Treatment Challenges in Patients with SECISBP2 Deficiency A Stoupa, MM Franca, M Abdulhadi-Atwan, H Fujisawa, ... Genetics in Medicine, 101280, 2024 | 1 | 2024 |
| Developmental Skills and Neurorehabilitation for Children With Batten Disease: A Retrospective Chart Review of a Comprehensive Batten Clinic R Bican, V Goddard, N Abreu, D Peifer, A Basinger, M Sveda, K Tanner, ... Pediatric Neurology 152, 107-114, 2024 | 1 | 2024 |
| Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings KA O'Neill, A Dugue, NJ Abreu, LJ Balcer, M Branche, S Galetta, J Graves, ... Neurology: Neuroimmunology & Neuroinflammation 11 (2), e200194, 2024 | 1 | 2024 |
| CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing C Steigerwald, J Borsuk, J Pappas, M Galey, A Scott, JM Devaney, ... Molecular Genetics and Metabolism 140 (4), 107713, 2023 | 1 | 2023 |
| Pearls & Oy-sters: CSF1R-Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis A Jain, VP Arena, C Steigerwald, MJ Borja, I Kister, NJ Abreu Neurology 101 (11), e1178-e1181, 2023 | 1 | 2023 |
| Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review R Jauregui, NJ Abreu, S Golan, JF Panarelli, M Sigireddi, GK Nayak, ... Brain Sciences 13 (7), 1030, 2023 | 1 | 2023 |
| Deep brain stimulation for the management of AIFM1-related disabling tremor: a case series J Tunyi, NJ Abreu, R Tripathi, MT Mathew, A Mears, P Agrawal, V Thakur, ... Pediatric Neurology 142, 47-50, 2023 | 1 | 2023 |
| Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction NJ Abreu, AE Siemon, AL Baylis, RE Kirschner, RB Pfau, ML Ho, ... Clinical Case Reports 10 (2), e05277, 2022 | 1 | 2022 |
