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Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt–Jakob disease SJ Collins, P Sanchez-Juan, CL Masters, GM Klug, C van Duijn, ... Brain 129 (9), 2278-2287, 2006 | 381 | 2006 |
CSF tests in the differential diagnosis of Creutzfeldt-Jakob disease P Sanchez-Juan, A Green, A Ladogana, N Cuadrado-Corrales, ... Neurology 67 (4), 637-643, 2006 | 335 | 2006 |
Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family C Tabernero, JM Polo, MD Sevillano, R Munoz, J Berciano, A Cabello, ... Journal of Neurology, Neurosurgery & Psychiatry 68 (6), 774-777, 2000 | 102 | 2000 |
Influence of timing on CSF tests value for Creutzfeldt-Jakob disease diagnosis P Sanchez-Juan, R Sánchez-Valle, A Green, A Ladogana, ... Journal of neurology 254, 901-906, 2007 | 99 | 2007 |
Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies A Ladogana, P Sanchez-Juan, E Mitrová, A Green, N Cuadrado-Corrales, ... Journal of neurology 256, 1620-1628, 2009 | 91 | 2009 |
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation MJ Escámez, M García, N Cuadrado‐Corrales, SG Llames, ... British Journal of Dermatology 163 (1), 155-161, 2010 | 83 | 2010 |
CSF analysis in patients with sporadic CJD and other transmissible spongiform encephalopathies A Green, P Sanchez‐Juan, A Ladogana, N Cuadrado‐Corrales, ... European journal of neurology 14 (2), 121-124, 2007 | 73 | 2007 |
Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa AMG Pasmooij, M Garcia, MJ Escamez, AM Nijenhuis, A Azon, ... Journal of investigative dermatology 130 (10), 2407-2411, 2010 | 68 | 2010 |
Impact of the clinical context on the 14-3-3 test for the diagnosis of sporadic CJD N Cuadrado-Corrales, A Jiménez-Huete, C Albo, R Hortigüela, L Vega, ... BMC neurology 6, 1-8, 2006 | 59 | 2006 |
Phosphorylated tau in cerebrospinal fluid as a marker for Creutzfeldt–Jakob disease B Van Everbroeck, AJE Green, E Vanmechelen, H Vanderstichele, P Pals, ... Journal of Neurology, Neurosurgery & Psychiatry 73 (1), 79-81, 2002 | 59 | 2002 |
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Altered glycosylation of acetylcholinesterase in Creutzfeldt–Jakob disease MX Silveyra, N Cuadrado‐Corrales, A Marcos, MS Barquero, A Rábano, ... Journal of neurochemistry 96 (1), 97-104, 2006 | 41 | 2006 |
Maternal medication use, carriership of the ABCB1 3435C > T polymorphism and the risk of a child with cleft lip with or without cleft palate BJB Bliek, RHN van Schaik, IP van der Heiden, FA Sayed‐Tabatabaei, ... American journal of medical genetics Part A 149 (10), 2088-2092, 2009 | 40 | 2009 |
In vivo assessment of acute UVB responses in normal and Xeroderma Pigmentosum (XP-C) skin-humanized mouse models M García, S Llames, E García, A Meana, N Cuadrado, M Recasens, ... The American journal of pathology 177 (2), 865-872, 2010 | 38 | 2010 |
A novel mutation I215V in the PRNP gene associated with Creutzfeldt–Jakob and Alzheimer’s diseases in three patients with divergent clinical phenotypes M Muñoz-Nieto, N Ramonet, JI López-Gastón, N Cuadrado-Corrales, ... Journal of neurology 260, 77-84, 2013 | 32 | 2013 |
A prevalent mutation with founder effect in Spanish recessive dystrophic epidermolysis bullosa families N Cuadrado-Corrales, C Sánchez-Jimeno, M García, MJ Escámez, ... BMC medical genetics 11, 1-7, 2010 | 30 | 2010 |
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex M García, JL Santiago, A Terrón, A Hernández‐Martín, A Vicente, ... British Journal of Dermatology 165 (3), 683-692, 2011 | 29 | 2011 |
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