| 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 | 841 | 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 | 782 | 2009 |
| 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 | 586 | 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 | 559 | 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 | 465 | 2007 |
| 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 | 420 | 2013 |
| Ubiquitous L1 mosaicism in hippocampal neurons KR Upton, DJ Gerhardt, JS Jesuadian, SR Richardson, ... Cell 161 (2), 228-239, 2015 | 361 | 2015 |
| Molecular and clinical genetics of mitochondrial diseases due to POLG mutations LJC Wong, RK Naviaux, N Brunetti‐Pierri, Q Zhang, ES Schmitt, C Truong, ... Human mutation 29 (9), E150-E172, 2008 | 330 | 2008 |
| Magnetic resonance imaging pattern recognition in hypomyelinating disorders ME Steenweg, A Vanderver, S Blaser, A Bizzi, TJ De Koning, ... Brain 133 (10), 2971-2982, 2010 | 289 | 2010 |
| Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy G Bernard, E Chouery, ML Putorti, M Tétreault, A Takanohashi, G Carosso, ... The American Journal of Human Genetics 89 (3), 415-423, 2011 | 255 | 2011 |
| GFAP mutations, age at onset, and clinical subtypes in Alexander disease M Prust, J Wang, H Morizono, A Messing, M Brenner, E Gordon, T Hartka, ... Neurology 77 (13), 1287-1294, 2011 | 241 | 2011 |
| Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study T Armangue, G Olivé-Cirera, E Martínez-Hernandez, M Sepulveda, ... The Lancet Neurology 19 (3), 234-246, 2020 | 240 | 2020 |
| Case definition and classification of leukodystrophies and leukoencephalopathies A Vanderver, M Prust, D Tonduti, F Mochel, HM Hussey, G Helman, ... Molecular genetics and metabolism 114 (4), 494-500, 2015 | 238 | 2015 |
| Novel (ovario) leukodystrophy related to AARS2 mutations C Dallabona, D Diodato, SH Kevelam, TB Haack, LJ Wong, GS Salomons, ... Neurology 82 (23), 2063-2071, 2014 | 214 | 2014 |
| A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum C Simons, NI Wolf, N McNeil, L Caldovic, JM Devaney, A Takanohashi, ... The American Journal of Human Genetics 92 (5), 767-773, 2013 | 205 | 2013 |
| A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies S Parikh, G Bernard, RJ Leventer, MS van der Knaap, J van Hove, ... Molecular genetics and metabolism 114 (4), 501-515, 2015 | 197 | 2015 |
| Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations NI Wolf, A Vanderver, RML Van Spaendonk, R Schiffmann, B Brais, ... Neurology 83 (21), 1898-1905, 2014 | 193 | 2014 |
| Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity RJ Taft, A Vanderver, RJ Leventer, SA Damiani, C Simons, SM Grimmond, ... The American Journal of Human Genetics 92 (5), 774-780, 2013 | 192 | 2013 |
| Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study C Depienne, M Bugiani, C Dupuits, D Galanaud, V Touitou, N Postma, ... The Lancet Neurology 12 (7), 659-668, 2013 | 181 | 2013 |
| Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy M Tétreault, K Choquet, S Orcesi, D Tonduti, U Balottin, M Teichmann, ... The American Journal of Human Genetics 89 (5), 652-655, 2011 | 164 | 2011 |
