Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings

por Monteleone, Berrin, Hyland, Keith
Publicado 2020

Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter meta...

por Smith, Neil, Longo, Nicola, Levert, Keith, Hyland, Keith, Blau, Nenad
Publicado 2019

Altered Serotonin, Dopamine and Norepinepherine Levels in 15q Duplication and Angelman Syndrome Mouse Models

por Farook, M. Febin, DeCuypere, Michael, Hyland, Keith, Takumi, Toru, LeDoux, Mark S., Reiter, Lawrence T.
Publicado 2012

Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency

por Champagne, Marjolaine, Horvath, Gabriella A., Perreault, Sébastien, Gauthier, Julie, Hyland, Keith, Soucy, Jean‐François, Mitchell, Grant A.
Publicado 2022

Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes

por Zima, Laura, Ceulemans, Sophia, Reiner, Gail, Galosi, Serena, Chen, Dillon, Sahagian, Michelle, Haas, Richard H., Hyland, Keith, Friedman, Jennifer
Publicado 2018

Impaired Systemic Tetrahydrobiopterin Bioavailability and Increased Dihydrobiopterin in Adult Falciparum Malaria: Association with Disease Severity, Impaired Microvascular Function...

por Yeo, Tsin W., Lampah, Daniel A., Kenangalem, Enny, Tjitra, Emiliana, Price, Ric N., Weinberg, J. Brice, Hyland, Keith, Granger, Donald L., Anstey, Nicholas M.
Publicado 2015

Metabolomic disorders: confirmed presence of potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior

por Pan, Lisa A., Segreti, Anna Maria, Wrobleski, Joseph, Shaw, Annie, Hyland, Keith, Hughes, Marion, Finegold, David N., Naviaux, Robert K., Brent, David A., Vockley, Jerry, Peters, David G.
Publicado 2023

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study

por Mercimek-Mahmutoglu, Saadet, Sidky, Sarah, Hyland, Keith, Patel, Jaina, Donner, Elizabeth J, Logan, William, Mendoza-Londono, Roberto, Moharir, Mahendranath, Raiman, Julian, Schulze, Andreas, Siriwardena, Komudi, Yoon, Grace, Kyriakopoulou, Lianna
Publicado 2015

Impaired Systemic Tetrahydrobiopterin Bioavailability and Increased Oxidized Biopterins in Pediatric Falciparum Malaria: Association with Disease Severity

por Rubach, Matthew P., Mukemba, Jackson, Florence, Salvatore, Lopansri, Bert K., Hyland, Keith, Volkheimer, Alicia D., Yeo, Tsin W., Anstey, Nicholas M., Weinberg, J. Brice, Mwaikambo, Esther D., Granger, Donald L.
Publicado 2015

Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons

por Pearson, Toni S., Gupta, Nalin, San Sebastian, Waldy, Imamura-Ching, Jill, Viehoever, Amy, Grijalvo-Perez, Ana, Fay, Alex J., Seth, Neha, Lundy, Shannon M., Seo, Youngho, Pampaloni, Miguel, Hyland, Keith, Smith, Erin, de Oliveira Barbosa, Gardenia, Heathcock, Jill C., Minnema, Amy, Lonser, Russell, Elder, J. Bradley, Leonard, Jeffrey, Larson, Paul, Bankiewicz, Krystof S.
Publicado 2021

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

por Ng, Joanne, Zhen, Juan, Meyer, Esther, Erreger, Kevin, Li, Yan, Kakar, Naseebullah, Ahmad, Jamil, Thiele, Holger, Kubisch, Christian, Rider, Nicholas L., Holmes Morton, D., Strauss, Kevin A., Puffenberger, Erik G., D’Agnano, Daniela, Anikster, Yair, Carducci, Claudia, Hyland, Keith, Rotstein, Michael, Leuzzi, Vincenzo, Borck, Guntram, Reith, Maarten E. A., Kurian, Manju A.
Publicado 2014

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

por Kurian, Manju A, Li, Yan, Zhen, Juan, Meyer, Esther, Hai, Nebula, Christen, Hans-Jürgen, Hoffmann, Georg F, Jardine, Philip, von Moers, Arpad, Mordekar, Santosh R, O'Callaghan, Finbar, Wassmer, Evangeline, Wraige, Elizabeth, Dietrich, Christa, Lewis, Timothy, Hyland, Keith, Heales, Simon JR, Sanger, Terence, Gissen, Paul, Assmann, Birgit E, Reith, Maarten EA, Maher, Eamonn R
Publicado 2010