Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family

por Kojovic, Maja, Sheerin, Una-Marie, Rubio-Agusti, Ignacio, Saha, Anirban, Bras, Jose, Gibbons, Vaneesha, Palmer, Rodger, Houlden, Henry, Hardy, John, Wood, Nicholas W, Bhatia, Kailash P
Publicado 2012

α-Synuclein mutations cluster around a putative protein loop()

por Kara, Eleanna, Lewis, Patrick A., Ling, Helen, Proukakis, Christos, Houlden, Henry, Hardy, John
Publicado 2013

Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia

por Brownjohn, Philip W., Smith, James, Solanki, Ravi, Lohmann, Ebba, Houlden, Henry, Hardy, John, Dietmann, Sabine, Livesey, Frederick J.
Publicado 2018

Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias

por Vavouraki, Nikoleta, Tomkins, James E., Kara, Eleanna, Houlden, Henry, Hardy, John, Tindall, Marcus J., Lewis, Patrick A., Manzoni, Claudia
Publicado 2021

Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels

por Bartolome, Fernando, Wu, Hsiu-Chuan, Burchell, Victoria S., Preza, Elisavet, Wray, Selina, Mahoney, Colin J., Fox, Nick C., Calvo, Andrea, Canosa, Antonio, Moglia, Cristina, Mandrioli, Jessica, Chiò, Adriano, Orrell, Richard W., Houlden, Henry, Hardy, John, Abramov, Andrey Y., Plun-Favreau, Helene
Publicado 2013