Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature GI Rice, PR Kasher, GMA Forte, NM Mannion, SM Greenwood, ...
Nature genetics 44 (11), 1243-1248, 2012
931 2012 Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ...
Nature genetics 41 (7), 829-832, 2009
826 2009 Treatment of Fabry’s disease with the pharmacologic chaperone migalastat DP Germain, DA Hughes, K Nicholls, DG Bichet, R Giugliani, WR Wilcox, ...
New england journal of medicine 375 (6), 545-555, 2016
654 2016 Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte, BH Anderson, ...
Nature genetics 46 (5), 503-509, 2014
631 2014 Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American journal of medical genetics Part A 167 (2), 296-312, 2015
628 2015 Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ...
The American Journal of Human Genetics 81 (4), 713-725, 2007
496 2007 Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study DA Hughes, K Nicholls, SP Shankar, G Sunder-Plassmann, D Koeller, ...
Journal of medical genetics 54 (4), 288-296, 2017
481 2017 Multi-system neurological disease is common in patients with OPA1 mutations P Yu-Wai-Man, PG Griffiths, GS Gorman, CM Lourenco, AF Wright, ...
Brain 133 (3), 771-786, 2010
465 2010 Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study GI Rice, GMA Forte, M Szynkiewicz, DS Chase, A Aeby, MS Abdel-Hamid, ...
The lancet neurology 12 (12), 1159-1169, 2013
462 2013 Reviews of evidence regarding interventions to reduce tobacco use and exposure to environmental tobacco smoke DP Hopkins, PA Briss, CJ Ricard, CG Husten, VG Carande-Kulis, ...
American journal of preventive medicine 20 (2), 16-66, 2001
337 2001 Mutations in CTC1 , encoding conserved telomere maintenance component 1, cause Coats plus BH Anderson, PR Kasher, J Mayer, M Szynkiewicz, EM Jenkinson, ...
Nature genetics 44 (3), 338-342, 2012
310 2012 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity R Bachmann-Gagescu, JC Dempsey, IG Phelps, BJ O'roak, DM Knutzen, ...
Journal of medical genetics 52 (8), 514-522, 2015
294 2015 Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment R Giugliani, A Federhen, MV Muñoz Rojas, T Vieira, O Artigalás, ...
Genetics and molecular biology 33, 589-604, 2010
281 2010 Acute heart failure congestion and perfusion status–impact of the clinical classification on in‐hospital and long‐term outcomes; insights from the ESC‐EORP‐HFA Heart Failure … O Chioncel, A Mebazaa, AP Maggioni, VP Harjola, G Rosano, C Laroche, ...
European journal of heart failure 21 (11), 1338-1352, 2019
276 2019 Measurement of prompt and nonprompt AM Sirunyan, A Tumasyan, W Adam, E Asilar, T Bergauer, J Brandstetter, ...
The European Physical Journal C 77, 1-27, 2017
249 2017 PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrumM Synofzik, MA Gonzalez, CM Lourenco, M Coutelier, TB Haack, ...
Brain 137 (1), 69-77, 2014
238 2014 Niemann-Pick disease type C symptomatology: an expert-based clinical description E Mengel, HH Klünemann, CM Lourenço, CJ Hendriksz, F Sedel, ...
Orphanet journal of rare diseases 8, 1-11, 2013
223 2013 Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans V Bayat, I Thiffault, M Jaiswal, M Tétreault, T Donti, F Sasarman, ...
PLoS biology 10 (3), e1001288, 2012
204 2012 Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia A Boukhris, R Schule, JL Loureiro, CM Lourenço, E Mundwiller, ...
The American Journal of Human Genetics 93 (1), 118-123, 2013
195 2013 Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update MC Patterson, P Clayton, P Gissen, M Anheim, P Bauer, O Bonnot, ...
Neurology: Clinical Practice 7 (6), 499-511, 2017
191 2017