about
A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.In vivo assessment of acute UVB responses in normal and Xeroderma Pigmentosum (XP-C) skin-humanized mouse models.CSF tests in the differential diagnosis of Creutzfeldt-Jakob disease.Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathiesFatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family.X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.Altered glycosylation of acetylcholinesterase in Creutzfeldt-Jakob disease.CSF analysis in patients with sporadic CJD and other transmissible spongiform encephalopathies.Apolipoprotein E allelic variants predict dementia in elderly patients with memory impairment.Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish populationA Recurrent Nonsense Mutation Occurring as a de novo Event in a Patient with Recessive Dystrophic Epidermolysis BullosaAnalysis of EEG and CSF 14-3-3 proteins as aids to the diagnosis of Creutzfeldt-Jakob diseaseRevertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosaA novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes
P50
Q33709899-66984906-1BEC-42AA-8BF4-6CC8B60345B1Q34033487-C5633E12-0311-4E22-97FD-A53C7CC905BCQ34559367-44AAE72B-CE15-4E16-B954-F38A1D4FBC78Q34901990-ACF014B0-370C-4AFA-AC1E-231E0C872B3EQ35457250-B5C8A829-8121-4E63-8DD1-095974C778DCQ37762678-2BA54DEB-A579-4B19-AB7F-F01B70E0B385Q43149614-0443BA6E-BFC6-4BB6-90C8-2A012338D097Q48702612-F2209A11-22E7-4A53-A85F-256544CB9113Q50700334-C1E1500B-5829-400D-BBEA-37DEC52FD1E4Q52052404-678962CE-93E8-4C98-A941-CA9A749ECA2BQ54368660-CAA69AB3-D932-41E7-A682-67CFBB9B327FQ63315206-7F3096BB-3003-4F16-B661-6FCC4019A6BBQ63315208-F494DBA4-F07D-4C74-94EF-3AD9FB4980A3Q74333080-B444346B-FABD-46ED-88E4-AF4780673BB7Q84468361-CFFD5514-5751-4ABE-8F0B-F7411A2983AEQ84522846-7D5964CB-2F34-4EC2-9C46-6365A174E8DB
P50
description
investigador
@es
onderzoeker
@nl
researcher
@en
name
Natividad Cuadrado Corrales
@ast
Natividad Cuadrado Corrales
@en
Natividad Cuadrado Corrales
@es
Natividad Cuadrado Corrales
@nl
type
label
Natividad Cuadrado Corrales
@ast
Natividad Cuadrado Corrales
@en
Natividad Cuadrado Corrales
@es
Natividad Cuadrado Corrales
@nl
prefLabel
Natividad Cuadrado Corrales
@ast
Natividad Cuadrado Corrales
@en
Natividad Cuadrado Corrales
@es
Natividad Cuadrado Corrales
@nl
P1053
K-6475-2017
P106
P31
P496
0000-0001-7509-1953