Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature GI Rice, PR Kasher, GMA Forte, NM Mannion, SM Greenwood, ... Nature Genetics, 2012 | 853 | 2012 |
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 | 449 | 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 | 434 | 2013 |
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia A Cortese, R Simone, R Sullivan, J Vandrovcova, H Tariq, WY Yau, ... Nature genetics 51 (4), 649-658, 2019 | 431 | 2019 |
The phenotypic manifestations of chromosome 17p11. 2 duplication. PK Thomas, W Marques Jr, MB Davis, MG Sweeney, RH King, JL Bradley, ... Brain: a journal of neurology 120 (3), 465-478, 1997 | 353 | 1997 |
PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier, TB Haack, ... Brain 137 (1), 69-77, 2014 | 226 | 2014 |
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion A Cortese, S Tozza, WY Yau, S Rossi, SJ Beecroft, Z Jaunmuktane, ... Brain 143 (2), 480-490, 2020 | 190 | 2020 |
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 | 183 | 2013 |
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study D Adams, M Polydefkis, A González-Duarte, J Wixner, AV Kristen, ... The Lancet Neurology 20 (1), 49-59, 2021 | 126 | 2021 |
Damage to the superior gluteal nerve after direct lateral approach to the hip CHF Picado, FL Garcia, W Marques Jr Clinical Orthopaedics and Related Research® 455, 209-211, 2007 | 115 | 2007 |
Postsurgical idiopathic brachial neuritis RI Malamut, W Marques, JD England, AJ Sumner Muscle & Nerve: Official Journal of the American Association of …, 1994 | 115 | 1994 |
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial L Schöls, TW Rattay, P Martus, C Meisner, J Baets, I Fischer, C Jägle, ... Brain 140 (12), 3112-3127, 2017 | 106 | 2017 |
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12 G Landouré, PP Zhu, CM Lourenço, JO Johnson, C Toro, KV Bricceno, ... Human mutation 34 (10), 1357-1360, 2013 | 99 | 2013 |
Role of ulnar nerve sonography in leprosy neuropathy with electrophysiologic correlation J Elias Jr, MH Nogueira-Barbosa, LT Feltrin, RB Furini, NT Foss, ... Journal of Ultrasound in Medicine 28 (9), 1201-1209, 2009 | 95 | 2009 |
Expanding the phenotypes of the Pro56Ser VAPB mutation: Proximal SMA with dysautonomia VD Marques, AA Barreira, MB Davis, PM Abou‐Sleiman, WA Silva Jr, ... Muscle & Nerve: Official Journal of the American Association of …, 2006 | 93 | 2006 |
Postural control and functional strength in patients with type 2 diabetes mellitus with and without peripheral neuropathy MM Vaz, GC Costa, JG Reis, WM Junior, FJA de Paula, DC Abreu Archives of physical medicine and rehabilitation 94 (12), 2465-2470, 2013 | 86 | 2013 |
17p duplicated Charcot–Marie–Tooth 1A W Marques, MR Freitas, OJM Nascimento, AB Oliveira, L Calia, A Melo, ... Journal of neurology 252 (8), 972-979, 2005 | 76 | 2005 |
Surgical outcome in mesial temporal sclerosis correlates with prion protein gene variant R Walz, R Castro, TR Velasco, V Alexandre Jr, MH Lopes, JP Leite, ... Neurology 61 (9), 1204-1210, 2003 | 66 | 2003 |
Primary neural leprosy: systematic review JA Garbino, W Marques Jr, JA Barreto, CO Heise, MMJ Rodrigues, ... Arquivos de neuro-psiquiatria 71 (6), 397-404, 2013 | 64 | 2013 |
Use of the frontal assessment battery in evaluating executive dysfunction in patients with Huntington’s disease GR Rodrigues, CP Souza, RS Cetlin, DS de Oliveira, M Pena-Pereira, ... Journal of neurology 256, 1809-1815, 2009 | 61 | 2009 |