Search Results - "Abreu, Nicolas"

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

“…Both 5q‐linked spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are fatal monogenic neuromuscular disorders caused by loss‐of‐function…”
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Online Monitoring of Oscillation Modes for Small-Signal Security Assessment by Parreiras, Thiago Jose Masseran Antunes, Gomes Junior, Sergio, Amaral, Tiago Santana do, da Costa, Marcelo Rosado, Netto, Nicolas Abreu Rocha Leite

“…This paper presents the main concepts of small-signal security assessment of power systems, focusing on the online monitoring of small-signal stability. In…”
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Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders by Abreu, Nicolas J, Chiujdea, Madeline, Liu, Shanshan, Zhang, Bo, Spence, Sarah J

“…We sought to identify patient and provider factors associated with low completion of genetic testing, specifically chromosomal microarray (CMA), for autism…”
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Pearls and Oy-sters: CSF1R-Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis by Jain, Aarushi, Arena, Vito P., Steigerwald, Connolly, Borja, Maria J., Kister, Ilya, Abreu, Nicolas J.

“…CSF1R-related leukoencephalopathy is an autosomal dominant neurological disorder causing microglial dysfunction with a wide range of neurologic complications,…”
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Emerging Subspecialties in Neurology: Neurodevelopmental disabilities by 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 by Steigerwald, Connolly, Borsuk, Jill, Pappas, John, Galey, Miranda, Scott, Anna, Devaney, Joseph M, Miller, Danny E, Abreu, Nicolas J

“…Neuronal ceroid lipofuscinosis type 2 (CLN2) is an autosomal recessive neurodegenerative disorder with enzyme replacement therapy available. We present two…”
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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 by Wilson, Genevieve E., Goldman, Deberah S., Saxe, Harriet, Li, Xiaochun, Goldberg, Judith D., Lau, Heather A., Abreu, Nicolas J.

“…Adult polyglucosan body disease (APBD) is a rare autosomal recessive glycogen storage disorder that leads to slowly progressive multi-organ dysfunction in…”
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Editorial commentary on “Gait phenotype in Batten disease: A marker of disease progression” by Abreu, Nicolas J., de los Reyes, Emily C.

“…Batten disease, also known as neuronal ceroid lipofuscinosis, refers to a diverse group of 13 hereditary inborn errors of metabolism resulting in the abnormal…”
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Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency by 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.

“…Defects in the gene encoding selenocysteine insertion sequence binding protein 2, SECISBP2, result in global impaired selenoprotein synthesis manifesting a…”
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Barriers to Genetic Testing Faced by Pediatric Subspecialists in Autism Spectrum Disorders by Abreu, Nicolas J., Chiujdea, Madeline, Spence, Sarah J.

“…Objectives While national medical guidelines recommend genetic testing for all individuals with non-syndromic autism spectrum disorder (ASD), there is…”
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Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series by Tunyi, Jude, Abreu, Nicolas J., Tripathi, Richa, Mathew, Mariam T., Mears, Ashley, Agrawal, Punit, Thakur, Vishal, Rezai, Ali R., Reyes, Emily de los

“…The AIFM1 gene encodes a mitochondrial protein that acts as a flavin adenine dinucleotide-dependent nicotinamide adenine dinucleotide oxidase and apoptosis…”
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Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes by Meyer, Alayne P., Forrest, Megan E., Nicolau, Stefan, Wiszniewski, Wojciech, Bland, Mary Pat, Tsao, Chang‐Yong, Antonellis, Anthony, Abreu, Nicolas J.

“…Heterozygosity for missense variants and small in‐frame deletions in GARS1 has been reported in patients with a range of genetic neuropathies including…”
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Two cases of MT-ND5-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder by Wilkins, Sophie R, Yu, Amy W, Steigerwald, Connolly, Tanji, Kurenai, Iglesias, Alejandro D, Hirano, Michio, Kister, Ilya, Riley, Claire S, Abreu, Nicolas J

“…Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disease primarily affecting the optic nerves and spinal cord, which is usually associated with…”
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Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype by 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.

“…FEZF2 encodes a transcription factor critical to neurodevelopment that regulates other neurodevelopment genes. Rare variants in FEZF2 have previously been…”
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Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB by 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.

“…To quantify changes in segmented brain volumes over 12 months in children with mucopolysaccharidosis types IIIA and IIIB (MPS IIIA and IIIB). In order to…”
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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 by Abreu, Nicolas J., Koboldt, Daniel C., Gastier‐Foster, Julie M., Dave‐Wala, Ashita, Flanigan, Kevin M., Waldrop, Megan A.

“…Pontocerebellar hypoplasia type 9 (PCH9) is an autosomal recessive neurodevelopmental disorder caused by pathogenic variants in the AMPD2 gene. We evaluated…”
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Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review by 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

“…Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes or . Clinically, the classic phenotype is composed of optic…”
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Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings by 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

“…A 16-year-old adolescent boy presented with recurrent episodes of weakness and numbness. Brain MRI demonstrated subcortical, juxtacortical, and periventricular…”
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Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction by Abreu, Nicolas J., Siemon, Amy E., Baylis, Adriane L., Kirschner, Richard E., Pfau, Ruthann B., Ho, Mai‐Lan, Hickey, Scott E., Truxal, Kristen V.

“…KMT2E‐related neurodevelopmental disorder is a recently described intellectual disability syndrome often with speech difficulties. Here, we describe an…”
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Establishing a Role for Polysomnography in Hospitalized Children by 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

“…Abstract Background Children with medical complexity have a high prevalence of sleep disorders. However, outpatient polysomnography to evaluate for these…”
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