Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy von Abreu, Nicolas J., Waldrop, Megan A.

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Online Monitoring of Oscillation Modes for Small-Signal Security Assessment von Parreiras, Thiago Jose Masseran Antunes, Gomes Junior, Sergio, Amaral, Tiago Santana do, da Costa, Marcelo Rosado, Netto, Nicolas Abreu Rocha Leite

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Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders von Abreu, Nicolas J, Chiujdea, Madeline, Liu, Shanshan, Zhang, Bo, Spence, Sarah J

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Pearls and Oy-sters: CSF1R-Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis von Jain, Aarushi, Arena, Vito P., Steigerwald, Connolly, Borja, Maria J., Kister, Ilya, Abreu, Nicolas J.

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Emerging Subspecialties in Neurology: Neurodevelopmental disabilities von Abreu, Nicolas J., Urion, David K., Asato, Miya R.

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CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing von Steigerwald, Connolly, Borsuk, Jill, Pappas, John, Galey, Miranda, Scott, Anna, Devaney, Joseph M, Miller, Danny E, Abreu, Nicolas J

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Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease von Wilson, Genevieve E., Goldman, Deberah S., Saxe, Harriet, Li, Xiaochun, Goldberg, Judith D., Lau, Heather A., Abreu, Nicolas J.

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Editorial commentary on “Gait phenotype in Batten disease: A marker of disease progression” von Abreu, Nicolas J., de los Reyes, Emily C.

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Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency von Stoupa, Athanasia, Franca, Monica Malheiros, Abdulhadi-Atwan, Maha, Fujisawa, Haruki, Korwutthikulrangsri, Manassawee, Marchand, Isis, Polak, Gabrielle, Beltrand, Jacques, Polak, Michel, Kariyawasam, Dulanjalee, Liao, Xiao-Hui, Raimondi, Chantalle, Steigerwald, Connolly, Abreu, Nicolas J., Bauer, Andrew J., Carré, Aurore, Taneja, Charit, Mekhoubad, Allison Bauman, Dumitrescu, Alexandra M.

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Barriers to Genetic Testing Faced by Pediatric Subspecialists in Autism Spectrum Disorders von Abreu, Nicolas J., Chiujdea, Madeline, Spence, Sarah J.

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Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series von Tunyi, Jude, Abreu, Nicolas J., Tripathi, Richa, Mathew, Mariam T., Mears, Ashley, Agrawal, Punit, Thakur, Vishal, Rezai, Ali R., Reyes, Emily de los

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Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes von Meyer, Alayne P., Forrest, Megan E., Nicolau, Stefan, Wiszniewski, Wojciech, Bland, Mary Pat, Tsao, Chang‐Yong, Antonellis, Anthony, Abreu, Nicolas J.

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Two cases of MT-ND5-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder von Wilkins, Sophie R, Yu, Amy W, Steigerwald, Connolly, Tanji, Kurenai, Iglesias, Alejandro D, Hirano, Michio, Kister, Ilya, Riley, Claire S, Abreu, Nicolas J

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Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype von Garber, Alison, Weingarten, Lisa S., Abreu, Nicolas J., Elloumi, Houda Zghal, Haack, Tobias, Hildebrant, Clara, Martínez‐Gil, Núria, Mathews, Jennifer, Müller, Amelie Johanna, Valenzuela Palafoll, Irene, Steigerwald, Connolly, Chung, Wendy K.

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Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB von Abreu, Nicolas J., Selvaraj, Bhavani, Truxal, Kristen V., Moore-Clingenpeel, Melissa, Zumberge, Nicholas A., McNally, Kelly A., McBride, Kim L., Ho, Mai-Lan, Flanigan, Kevin M.

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Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review von Jauregui, Ruben, Abreu, Nicolas J, Golan, Shani, Panarelli, Joseph F, Sigireddi, Meenakshi, Nayak, Gopi K, Gold, Doria M, Rucker, Janet C, Galetta, Steven L, Grossman, Scott N

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Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2 von Abreu, Nicolas J., Koboldt, Daniel C., Gastier‐Foster, Julie M., Dave‐Wala, Ashita, Flanigan, Kevin M., Waldrop, Megan A.

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Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction von Abreu, Nicolas J., Siemon, Amy E., Baylis, Adriane L., Kirschner, Richard E., Pfau, Ruthann B., Ho, Mai‐Lan, Hickey, Scott E., Truxal, Kristen V.

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Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings von O'Neill, Kimberly A, Dugue, Andrew, Abreu, Nicolas J, Balcer, Laura J, Branche, Marc, Galetta, Steven, Graves, Jennifer, Kister, Ilya, Magro, Cynthia, Miller, Claire, Newsome, Scott D, Pappas, John, Rucker, Janet, Steigerwald, Connolly, William, Christopher M, Zamvil, Scott S, Grossman, Scott N, Krupp, Lauren B

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Establishing a Role for Polysomnography in Hospitalized Children von Tkachenko, Nataliya, MD, Singh, Kanwaljit, MD, Abreu, Nicolas, MD, Morse, Anne Marie, DO, Day, Christy, RPSGT, Fitzgerald, Kathyrn, PNP, Kazachkov, Mikhail, MD, Kothare, Sanjeev, MD

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