Search Results - "de Los Reyes, Emily C"

Safety and Pharmacokinetics of Ribavirin for the Treatment of La Crosse Encephalitis by McJunkin, James E, Nahata, Milap C, De Los Reyes, Emily C, Hunt, W Garrett, Caceres, Manuel, Khan, Raheel R, Chebib, Mouna G, Taravath, Sasidharan, Minnich, Linda L, Carr, Roxane, Welch, Christine A, Whitley, Richard J

“…BACKGROUND:La Crosse viral encephalitis (LACVE) is associated with residual epilepsy and neurocognitive deficits in survivors. This report summarizes 3 phases…”
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Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients by Mole, Sara E, Schulz, Angela, Badoe, Eben, Berkovic, Samuel F, de Los Reyes, Emily C, Dulz, Simon, Gissen, Paul, Guelbert, Norberto, Lourenco, Charles M, Mason, Heather L, Mink, Jonathan W, Murphy, Noreen, Nickel, Miriam, Olaya, Joffre E, Scarpa, Maurizio, Scheffer, Ingrid E, Simonati, Alessandro, Specchio, Nicola, Von Löbbecke, Ina, Wang, Raymond Y, Williams, Ruth E

“…CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of…”
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Recurrent central nervous system white matter changes in charcot-Marie-Tooth type X disease by Mckinney, Jennifer L., De Los Reyes, Emily C., Lo, Warren D., Flanigan, Kevin M.

“…ABSTRACT Introduction: X‐linked Charcot–Marie–Tooth (CMT1X) disease is caused by mutations in the GJB1 gene. We describe a young man who presented with…”
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Developmental Skills and Neurorehabilitation for Children With Batten Disease: A Retrospective Chart Review of a Comprehensive Batten Clinic by Bican, Rachel, Goddard, Virginia, Abreu, Nicolas, Peifer, Danielle, Basinger, Andrea, Sveda, Michelle, Tanner, Kelly, de los Reyes, Emily C.

“…Batten disease is a rare, progressive neurogenetic disorder composed of 13 genotypes that often presents in childhood. Children present with seizures, vision…”
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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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Unique Characteristics of the Photoparoxysmal Response in Patients With Neuronal Ceroid Lipofuscinosis Type 2: Can EEG Be a Biomarker? by Albert, Dara V., Yin, Han, De Los Reyes, Emily C., Vidaurre, Jorge

“…Objective: The objective was to identify unique features of the photoparoxysmal response seen in patients with neuronal ceroid lipofuscinosis type 2 as…”
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Levetiracetam in the treatment of Lennox-Gastaut syndrome by de los Reyes, Emily C, Sharp, Gregory B, Williams, Jane P, Hale, Sue E

“…Lennox-Gastaut syndrome is an epileptic encephalopathy characterized by multiple seizure types, mental retardation, and a slow spike-and-wave pattern on…”
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Language Regression in an Atypical SLC6A1 Mutation by Islam, Monica P., Herman, Gail E., de los Reyes, Emily C.

“…Recent technological advances in exome sequencing or targeted gene sequencing with epilepsy panels have allowed clinicians to better understand the…”
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Danon Disease: An Unusual Presentation of Autism by Burusnukul, Prinyarat, MD, de los Reyes, Emily C., MD, Yinger, Jacqueline, CNP, Boué, Daniel R., MD, PhD

“…Danon disease is an X-linked cardioskeletal myopathy, originally reported as “lysosomal glycogen storage disease with normal acid maltase,” resulting from a…”
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Treatment of Severe La Crosse Encephalitis With Intravenous Ribavirin Following Diagnosis by Brain Biopsy by McJunkin, James E, Khan, Raheel, de los Reyes, Emily C, Parsons, Debra L, Minnich, Linda L, Ashley, Rebecca G, Tsai, Theodore F

“…Intravenous ribavirin saved a child dying of La Crosse encephalitis (LE) after testing of a brain tissue sample revealed the presence of the virus. LE is…”
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Phenotypic Variations in 3 Children With POLG1 Mutations by Burusnukul, Prinyarat, de los Reyes, Emily C.

“…Autosomal inherited mitochondrial diseases have been of increasing interest among clinicians and mitochondrial research groups because these diseases are…”
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La Crosse Encephalitis in Children by McJunkin, James E, de los Reyes, Emily C, Irazuzta, Jose E, Caceres, Manuel J, Khan, Raheel R, Minnich, Linda L, Fu, Kai D, Lovett, Gretchen D, Tsai, Theodore, Thompson, Ann

“…La Crosse virus is the most pathogenic member of the California encephalitis serogroup. It was first isolated from the brain of a four-year-old child who had…”
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Role of Methylenetetrahydrofolate Reductase Gene (MTHFR) 677C>T Polymorphism in Pediatric Cerebrovascular Disorders by Alsayouf, Hamza, Zamel, Khaled M., Heyer, Geoffrey L., Khuhro, A. Latif, Kahwash, Samir B., de los Reyes, Emily C.

“…Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) 677C>T mutation (MTHFR TT) has been linked to an increased risk for stroke, coronary artery…”
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Periodic Lateralized Epileptiform Discharges in La Crosse Encephalitis, a Worrisome Subgroup: Clinical Presentation, Electroencephalogram (EEG) Patterns, and Long-Term Neurologic Outcome by de los Reyes, Emily C., McJunkin, James E., Glauser, Tracy A., Tomsho, Mark, O'Neal, James

“…La Crosse virus encephalitis is the most common mosquito-borne virus in children in the United States. La Crosse virus encephalitis has emerged as a…”
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Cerliponase alfa for the treatment of CLN2 disease in a patient cohort including children under 3 years of age by Schulz, Angela, de los Reyes, Emily C., Specchio, Nicola, Gissen, Paul, Slasor, Peter, Bondade, Shailesh, Cohen Pfeffer, Jessica L.

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Intravitreal enzyme replacement therapy to prevent retinal disease progression in children with neuronal ceroid lipofuscinosis type 2 (CLN2): Unilateral injection results by Rogers, David L., de los Reyes, Emily C., Mendel, Thomas A., Caprul, Brian J., Podlasiak, Sarah, Jordan, Catherine O.

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Onset and evolution of symptoms in CLN8 disease by Abreu, Nicolas J., Khurho, Zarsha, Scherr, Jessica, de los Reyes, Emily C.

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Intravitreal enzyme replacement therapy to prevent retinal disease progression in children with neuronal ceroid lipofuscinosis type 2 (CLN2): Interim safety report by Rogers, David L., de los Reyes, Emily C., Caprul, Brian J., Mendel, Thomas A., Jordan, Catherine O.

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The 50-M timed test as a simple, efficient and objective measure of gross motor function in CLN3 disease: A pilot study by Abreu, Nicolas J., Powers, Brenna R., Sveda, Michelle M., Peifer, Danielle E., Khurho, Zarsha, O'Neal, Matthew, Alfano, Lindsay N., Scherr, Jessica, de los Reyes, Emily C.

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Autism and immunizations: separating fact from fiction by de Los Reyes, Emily C

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