Analysis of Parkinson's disease brain–derived DNA for alpha-synuclein coding somatic mutations

por Proukakis, Christos, Shoaee, Maryiam, Morris, James, Brier, Timothy, Kara, Eleanna, Sheerin, Una-Marie, Charlesworth, Gavin, Tolosa, Eduardo, Houlden, Henry, Wood, Nicholas W, Schapira, Anthony H
Publicado 2014

Molecular basis of FAAH-OUT-associated human pain insensitivity

por Mikaeili, Hajar, Habib, Abdella M, Yeung, Charlix Wai-Lok, Santana-Varela, Sonia, Luiz, Ana P, Panteleeva, Kseniia, Zuberi, Sana, Athanasiou-Fragkouli, Alkyoni, Houlden, Henry, Wood, John N, Okorokov, Andrei L, Cox, James J
Publicado 2023

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis

por Vila Cuenca, Marc, Marchi, Giacomo, Barqué, Anna, Esteban-Jurado, Clara, Marchetto, Alessandro, Giorgetti, Alejandro, Chelban, Viorica, Houlden, Henry, Wood, Nicholas W, Piubelli, Chiara, Dorigatti Borges, Marina, Martins de Albuquerque, Dulcinéia, Yotsumoto Fertrin, Kleber, Jové-Buxeda, Ester, Sanchez-Delgado, Jordi, Baena-Díez, Neus, Burnyte, Birute, Utkus, Algirdas, Busti, Fabiana, Kaubrys, Gintaras, Suku, Eda, Kowalczyk, Kamil, Karaszewski, Bartosz, Porter, John B., Pollard, Sally, Eleftheriou, Perla, Bignell, Patricia, Girelli, Domenico, Sanchez, Mayka
Publicado 2020

The Phenotypic Spectrum of DYT24 Due to ANO3 Mutations

por Stamelou, Maria, Charlesworth, Gavin, Cordivari, Carla, Schneider, Susanne A, Kägi, Georg, Sheerin, Una-Marie, Rubio-Agusti, Ignacio, Batla, Amit, Houlden, Henry, Wood, Nicholas W, Bhatia, Kailash P
Publicado 2014

Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes

por Lescai, Francesco, Bonfiglio, Silvia, Bacchelli, Chiara, Chanudet, Estelle, Waters, Aoife, Sisodiya, Sanjay M., Kasperavičiūtė, Dalia, Williams, Julie, Harold, Denise, Hardy, John, Kleta, Robert, Cirak, Sebahattin, Williams, Richard, Achermann, John C., Anderson, John, Kelsell, David, Vulliamy, Tom, Houlden, Henry, Wood, Nicholas, Sheerin, Una, Tonini, Gian Paolo, Mackay, Donna, Hussain, Khalid, Sowden, Jane, Kinsler, Veronica, Osinska, Justyna, Brooks, Tony, Hubank, Mike, Beales, Philip, Stupka, Elia
Publicado 2012

Antiretroviral Initiation at ≥800 CD4+ Cells/mm(3) Associated With Lower Human Immunodeficiency Virus Reservoir Size

por Rasmussen, Thomas A, Ahuja, Sunil K, Kuwanda, Locadiah, Vjecha, Michael J, Hudson, Fleur, Lal, Luxshimi, Rhodes, Ajantha, Chang, Judy, Palmer, Sarah, Auberson-Munderi, Paula, Mugerwa, Henry, Wood, Robin, Badal-Faesen, Sharlaa, Pillay, Sandy, Mngqibisa, Rosie, LaRosa, Alberto, Hildago, Jose, Petoumenos, Kathy, Chiu, Chris, Lutaakome, Joseph, Kitonsa, Jonathan, Kabaswaga, Esther, Pala, Pietro, Ganoza, Carmela, Fisher, Katie, Chang, Christina, Lewin, Sharon R, Wright, Edwina J
Publicado 2022