Search Results - "Perez, Ana Grijalvo"

Corticobasal degeneration by Grijalvo-Perez, Ana M, Litvan, Irene

“…Among the atypical parkinsonian syndromes, corticobasal degeneration (CBD) is probably the most challenging disorder to diagnose antemortem. It can present…”
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Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons by 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.

“…Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder characterized by deficient synthesis of dopamine and serotonin. It presents in…”
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Autism and developmental disability caused by KCNQ3 gain‐of‐function variants by Sands, Tristan T., Miceli, Francesco, Lesca, Gaetan, Beck, Anita E., Sadleir, Lynette G., Arrington, Daniel K., Schönewolf‐Greulich, Bitten, Moutton, Sébastien, Lauritano, Anna, Nappi, Piera, Soldovieri, Maria Virginia, Scheffer, Ingrid E., Mefford, Heather C., Stong, Nicholas, Heinzen, Erin L., Goldstein, David B., Perez, Ana Grijalvo, Kossoff, Eric H., Stocco, Amber, Sullivan, Jennifer A., Shashi, Vandana, Gerard, Benedicte, Francannet, Christine, Bisgaard, Anne‐Marie, Tümer, Zeynep, Willems, Marjolaine, Rivier, François, Vitobello, Antonio, Thakkar, Kavita, Rajan, Deepa S., Barkovich, A. James, Weckhuysen, Sarah, Cooper, Edward C., Taglialatela, Maurizio, Cilio, M. Roberta

“…Objective Recent reports have described single individuals with neurodevelopmental disability (NDD) harboring heterozygous KCNQ3 de novo variants (DNVs). We…”
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Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation by Zaki, Maha S, Saleem, Sahar N, Dobyns, William B, Barkovich, A. James, Bartsch, Hauke, Dale, Anders M, Ashtari, Manzar, Akizu, Naiara, Gleeson, Joseph G, Grijalvo-Perez, Ana Maria

“…We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the…”
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