1
TÍTULO: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers  Full Text
AUTORES: Niccolo E Mencacci; Ioannis U Isaias; Martin M Reich; Christos Ganos; Vincent Plagnol; James M Polke; Jose Bras; Joshua Hersheson; Maria Stamelou; Alan M Pittman; Alastair J Noyce; Kin Y Mok; Thomas Opladen; Erdmute Kunstmann; Sybille Hodecker; Alexander Muenchau; Jens Volkmann; Samuel Samnick; Katie Sidle; Tina Nanji; Mary G Sweeney; Henry Houlden; Amit Batla; Anna L Zecchinelli; Gianni Pezzoli; Giorgio Marotta; Andrew Lees; Paulo Alegria; Paul Krack; Florence Cormier Dequaire; Suzanne Lesage; Alexis Brice; Peter Heutink; Thomas Gasser; Steven J Lubbe; Huw R Morris; Pille Taba; Sulev Koks; Elisa Majounie; Raphael Gibbs; Andrew Singleton; John Hardy; Stephan Klebe; Kailash P Bhatia; Nicholas W Wood; ...Mais
PUBLICAÇÃO: 2014, FONTE: BRAIN, VOLUME: 137, NÚMERO: 9
INDEXADO EM: Scopus WOS CrossRef: 72
2
TÍTULO: Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
AUTORES: Anna C Thomas; Hywel Williams; Nuria Seto Salvia; Chiara Bacchelli; Dagan Jenkins; Mary O'Sullivan; Konstantinos Mengrelis; Miho Ishida; Louise Ocaka; Estelle Chanudet; Chela James; Francesco Lescai; Glenn Anderson; Deborah Morrogh; Mina Ryten; Andrew J Duncan; Yun Jin Pai; Jorge M Saraiva; Fabiana Ramos; Bernadette Farren; Dawn Saunders; Bertrand Vernay; Paul Gissen; Anna Straatmaan Iwanowska; Frank Baas; Nicholas W Wood; Joshua Hersheson; Henry Houlden; Jane Hurst; Richard Scott; Maria Bitner Glindzicz; Gudrun E Moore; Sergio B Sousa; Philip Stanier; ...Mais
PUBLICAÇÃO: 2014, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 95, NÚMERO: 5
INDEXADO EM: Scopus WOS CrossRef: 25