Treatment of Fabry’s Disease with the Pharmacologic Chaperone MigalastatDominique P. Germain, Derralynn Hughes, Kathy Nicholls, Daniel G. Bichet, Roberto Giugliani, William R. Wilcox, Claudio Feliciani, Suma P. Shankar, Fatih Süheyl Ezgü, Hernan Amartino, Drago Bratkovic, Ulla Feldt‐Rasmussen, Khan Nedd, Usama Sharaf El Din, Charles Marques Lourenço, Maryam Banikazemi, Joel Charrow, Majed Dasouki, David N. Finegold, Pilar Giraldo, Özlem Göker-Alpan, Nicola Longo, C. Ronald Scott, Roser Torrá, Ahmad Tuffaha, Ana Jovanović, Stephen Waldek, Seymour Packman, Elizabeth Ludington, Christopher Viereck, John Kirk, Julie Yu, Elfrida R. Benjamin, Franklin K. Johnson, David J. Lockhart, Nina Skuban, Jeff Castelli, Jay Barth, Carrolee Barlow, Raphael Schiffmann
New England Journal of Medicine. 2016560 CitationsOPEN ACCESS
Clinical and Molecular Phenotype of Aicardi-Goutières SyndromeGillian Rice, Teresa Patrick, Rekha Parmar, Claire Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, Simon Attard Montalto, Carlos A. Bacino, Bruno Barroso, Peter Baxter, Willam S. Benko, Carsten Bergmann, Enrico Bertini, Roberta Biancheri, Edward Blair, Nenad Blau, David T. Bonthron, Tracy A. Briggs, Louise Brueton, Han G. Brunner, Christopher J. Burke, Ian Carr, Daniel R. Carvalho, Kate Chandler, H.‐J. Christen, Peter Corry, Frances M. Cowan, Helen Cox, Stefano D’Arrigo, John Dean, Corinne De Laet, Claudine De Praeter, Catherine Déry, Colin D. Ferrie, Kim Flintoff, Suzanna G.M. Frints, Àngels García‐Cazorla, Blanca Gener, Cyril Goizet, Françoise Goutières, Andrew Green, Agnès Guët, Ben C.J. Hamel, Bruce E. Hayward, Arvid Heiberg, Raoul C. M. Hennekam, Marie Husson, Andrew P. Jackson, Rasieka Jayatunga, Yong‐hui Jiang, Sarina G. Kant, Amy Kao, Mary D. King, Helen Kingston, Joerg Klepper, Marjo S. van der Knaap, Andrew J. Kornberg, Dieter Kotzot, W Kratzer, Didier Lacombe, Lieven Lagae, P. Landrieu, Giovanni Lanzi, Andrea Leitch, Ming Lim, John H. Livingston, Charles Marques Lourenço, E G Hermione Lyall, Sally Ann Lynch, Michael J. Lyons, Daphna Marom, John P. McClure, Robert McWilliam, Serge B. Melançon, Leena Mewasingh, Marie‐Laure Moutard, Ken K. Nischal, John R. Østergaard, Julie Prendiville, Magnhild Rasmussen, R. Curtis Rogers, Dominique Roland, Elisabeth Rosser, Kevin Rostásy, Agathe Roubertie, Amparo Sanchís, Raphael Schiffmann, Sabine Scholl‐Bürgi, Sunita Seal, Stavit A. Shalev, Concepción Sierra Córcoles, Gyan P. Sinha, Doriette Soler, Ronen Spiegel, John B.P. Stephenson, Uta Tacke, Tiong Yang Tan, Marianne Till, John Tolmie
The American Journal of Human Genetics. 2007453 CitationsOPEN ACCESS
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT studyDerralynn Hughes, Kathy Nicholls, Suma P. Shankar, Gere Sunder–Plassmann, David M. Koeller, Khan Nedd, Gerard Vockley, Takashi Hamazaki, Robin Lachmann, Toya Ohashi, Iacopo Olivotto, Norio Sakai, Patrick Deegan, David Dimmock, François Eyskens, Dominique P. Germain, Özlem Göker-Alpan, É. Hachulla, Ana Jovanović, Charles Marques Lourenço, Ichiei Narita, Mark Thomas, William R. Wilcox, Daniel G. Bichet, Raphael Schiffmann, Elizabeth Ludington, Christopher Viereck, John Kirk, Julie Yu, Franklin K. Johnson, Pol Boudes, Elfrida R. Benjamin, David J. Lockhart, Carrolee Barlow, Nina Skuban, Jeffrey P. Castelli, Jay Barth, Ulla Feldt‐Rasmussen
Journal of Medical Genetics. 2016390 CitationsOPEN ACCESS
The selection and use of essential medicines.Peter N. Kazembe, Jehan Al Fannah, Kalle Hoppu, Elizabeta Zisovska, HB Pedersen, S Hill, Clive Ondari, Dianne J. Terlouw, Donald R. Mattison, LI Zhi-ping, Dinesh Kumar Mehta, Anwarul Hassan Gilani, P Chongtrakul, Gregory L. Kearns, Jamie Robertson, Alar Irs, E. Huw Davies, Noel Cranswick, S Walters, Helena Coelho, A Helali, HV Hogerzeil, Hisae Nakamura, Andy Gray, M M Reidenberg, Sri Suryawati, Uttam GUPTA
PubMed. 2004216 Citations