Jon Infante

Summary

Country: Spain

Publications

  1. doi request reprint Synergistic effect of two oxidative stress-related genes (heme oxygenase-1 and GSK3β) on the risk of Parkinson's disease
    J Infante
    Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Marqués de Valdecilla University Hospital University of Cantabria, Santander, Spain
    Eur J Neurol 17:760-2. 2010
  2. ncbi request reprint LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease
    Jon Infante
    Service of Neurology, University Hospital Marques de Valdecilla, University of Cantabria, 39008 Santander, Spain
    Neurosci Lett 395:224-6. 2006
  3. ncbi request reprint Poly (ADP-ribose) polymerase-1 (PARP-1) genetic variants are protective against Parkinson's disease
    Jon Infante
    Service of Neurology, University Hospital Marqués de Valdecilla University of Cantabria, Santander, Spain
    J Neurol Sci 256:68-70. 2007
  4. doi request reprint Inflammation-related genes and the risk of Parkinson's disease: a multilocus approach
    J Infante
    Service of Neurology and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, University Hospital Marqués de Valdecilla University of Cantabria, Santander, Spain
    Eur J Neurol 15:431-3. 2008
  5. ncbi request reprint CD14 receptor polymorphism and Alzheimer's disease risk
    Onofre Combarros
    Service of Neurology, University Hospital Marques de Valdecilla, University of Cantabria, 39008 Santander, Spain
    Neurosci Lett 380:193-6. 2005
  6. ncbi request reprint Interaction between poly(ADP-ribose) polymerase 1 and interleukin 1A genes is associated with Alzheimer's disease risk
    Jon Infante
    Neurology Service, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
    Dement Geriatr Cogn Disord 23:215-8. 2007
  7. ncbi request reprint Interaction between CD14 and LXRbeta genes modulates Alzheimer's disease risk
    Eloy Rodríguez-Rodríguez
    Neurology Service, University Hospital Marqués de Valdecilla University of Cantabria, Santander, Spain
    J Neurol Sci 264:97-9. 2008
  8. ncbi request reprint No association of genetic variants of liver X receptor-beta with Alzheimer's disease risk
    Eloy Rodríguez-Rodríguez
    Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, Marqués de Valdecilla University Hospital University of Cantabria, Santander, Spain
    Am J Med Genet B Neuropsychiatr Genet 147:650-3. 2008
  9. ncbi request reprint Age-dependent association between the Q7R polymorphism in the Saitohin gene and sporadic Alzheimer's disease
    Onofre Combarros
    Neurology Service, Marques de Valdecilla University Hospital, University of Cantabria, Spain
    Dement Geriatr Cogn Disord 16:132-5. 2003
  10. ncbi request reprint Case-control study of vascular endothelial growth factor (VEGF) genetic variability in Alzheimer's disease
    Ignacio Mateo
    Service of Neurology, University Hospital Marqués de Valdecilla University of Cantabria, 39008 Santander, Spain
    Neurosci Lett 401:171-3. 2006

Collaborators

Detail Information

Publications67

  1. doi request reprint Synergistic effect of two oxidative stress-related genes (heme oxygenase-1 and GSK3β) on the risk of Parkinson's disease
    J Infante
    Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Marqués de Valdecilla University Hospital University of Cantabria, Santander, Spain
    Eur J Neurol 17:760-2. 2010
    ..Underexpression of HO-1 in concert with an upregulation of GSK3beta would result in a less effective antioxidant response and might increase the risk of PD...
  2. ncbi request reprint LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease
    Jon Infante
    Service of Neurology, University Hospital Marques de Valdecilla, University of Cantabria, 39008 Santander, Spain
    Neurosci Lett 395:224-6. 2006
    ..R1441G was not detected in any of our study subjects. The prevalence of G2019S mutation in unselected late-onset PD patients might be higher than previously reported: 3/16 (18.7%) of familial PD and 5/82 (6.1%) of sporadic PD...
  3. ncbi request reprint Poly (ADP-ribose) polymerase-1 (PARP-1) genetic variants are protective against Parkinson's disease
    Jon Infante
    Service of Neurology, University Hospital Marqués de Valdecilla University of Cantabria, Santander, Spain
    J Neurol Sci 256:68-70. 2007
    ..44) and (CA)n microsatellite (OR 0.53) polymorphisms, and heterozygosity at (-1672) polymorphism delayed by 4 years on the onset age of PD. Variations in the regulatory region of PARP-1 gene might modify the risk for PD...
  4. doi request reprint Inflammation-related genes and the risk of Parkinson's disease: a multilocus approach
    J Infante
    Service of Neurology and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, University Hospital Marqués de Valdecilla University of Cantabria, Santander, Spain
    Eur J Neurol 15:431-3. 2008
    ..Set-association analysis did not reveal an independent or an interactive effect of these inflammatory genes on the PD risk...
  5. ncbi request reprint CD14 receptor polymorphism and Alzheimer's disease risk
    Onofre Combarros
    Service of Neurology, University Hospital Marques de Valdecilla, University of Cantabria, 39008 Santander, Spain
    Neurosci Lett 380:193-6. 2005
    ....
  6. ncbi request reprint Interaction between poly(ADP-ribose) polymerase 1 and interleukin 1A genes is associated with Alzheimer's disease risk
    Jon Infante
    Neurology Service, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
    Dement Geriatr Cogn Disord 23:215-8. 2007
    ..PARP-1 -410 and PARP-1 -1672 haplotypes were associated with an increased risk for AD (global haplotype association p value=0.019), and, in addition, PARP-1 haplotypes increased the risk of AD by interaction with the IL-1A -889 allele 2...
  7. ncbi request reprint Interaction between CD14 and LXRbeta genes modulates Alzheimer's disease risk
    Eloy Rodríguez-Rodríguez
    Neurology Service, University Hospital Marqués de Valdecilla University of Cantabria, Santander, Spain
    J Neurol Sci 264:97-9. 2008
    ..16, 95% CI 0.04-0.67, p=0.01). These data support a role for innate immune response genes in risk for AD...
  8. ncbi request reprint No association of genetic variants of liver X receptor-beta with Alzheimer's disease risk
    Eloy Rodríguez-Rodríguez
    Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, Marqués de Valdecilla University Hospital University of Cantabria, Santander, Spain
    Am J Med Genet B Neuropsychiatr Genet 147:650-3. 2008
    ..The current study does not demonstrate an association between LXRbeta genotypes or haplotypes and AD, neither in the total sample nor when the populations were stratified for the presence or absence of the APOE epsilon4 allele...
  9. ncbi request reprint Age-dependent association between the Q7R polymorphism in the Saitohin gene and sporadic Alzheimer's disease
    Onofre Combarros
    Neurology Service, Marques de Valdecilla University Hospital, University of Cantabria, Spain
    Dement Geriatr Cogn Disord 16:132-5. 2003
    ..The current study reveals that increased risk of AD associated with the STH RR genotype (OR 2.17, p = 0.04) is limited to late-onset (after the age of 72 years) AD cases...
  10. ncbi request reprint Case-control study of vascular endothelial growth factor (VEGF) genetic variability in Alzheimer's disease
    Ignacio Mateo
    Service of Neurology, University Hospital Marqués de Valdecilla University of Cantabria, 39008 Santander, Spain
    Neurosci Lett 401:171-3. 2006
    ..So, we performed a case-control study in 362 Spanish AD patients and 428 healthy controls. The current study does not demonstrate an association between VEGF (-2578) and VEGF (-634) genotypes or haplotypes and AD...
  11. doi request reprint Interaction between HMGCR and ABCA1 cholesterol-related genes modulates Alzheimer's disease risk
    Eloy Rodríguez-Rodríguez
    Centro de Investigacion Biomedica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
    Brain Res 1280:166-71. 2009
    ..Considering synergistic effects between polymorphisms in synthesis and secretion cholesterol-related genes may help in determining the risk profile for AD...
  12. doi request reprint Genetic interaction between tau and the apolipoprotein E receptor LRP1 Increases Alzheimer's disease risk
    José Luis Vázquez-Higuera
    Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CIBERNED, University Hospital Marqués de Valdecilla University of Cantabria, Santander, Spain
    Dement Geriatr Cogn Disord 28:116-20. 2009
    ..These data suggest that the synergistic effects (epistasis) between tau and LRP1 might modify the risk of AD in an APOE epsilon4 allele-independent fashion...
  13. doi request reprint Synergistic effect of heme oxygenase-1 and tau genetic variants on Alzheimer's disease risk
    Ignacio Mateo
    Neurology Service, University Hospital Marques de Valdecilla, University of Cantabria, Santander, Spain
    Dement Geriatr Cogn Disord 26:339-42. 2008
    ..5-time higher risk of developing AD than subjects without these risk genotypes (OR = 6.65, 95% CI 1.12-39.29; p = 0.037). These data support a role for tau-related genes in the risk of AD...
  14. doi request reprint Gene-gene interaction between heme oxygenase-1 and liver X receptor-beta and Alzheimer's disease risk
    Jon Infante
    Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Marqués de Valdecilla University Hospital University of Cantabria, Santander, Spain
    Neurobiol Aging 31:710-4. 2010
    ..75) had a higher risk of developing AD than subjects without these risk genotypes. Considering synergistic effects between polymorphisms in cellular cholesterol efflux-related genes may help in determining the risk profile for AD...
  15. doi request reprint 14-3-3 zeta and tau genes interactively decrease Alzheimer's disease risk
    Ignacio Mateo
    Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
    Dement Geriatr Cogn Disord 25:317-20. 2008
    ..4, 95% CI = 0.2-0.8, p = 0.016). Considering synergistic effects between polymorphisms in tau phosphorylation related genes may help in determining the risk profile for AD...
  16. pmc No association of CDK5 genetic variants with Alzheimer's disease risk
    José Luis Vázquez-Higuera
    Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, University Hospital Marqués de Valdecilla University of Cantabria, Santander, Spain
    BMC Med Genet 10:68. 2009
    ....
  17. ncbi request reprint Association between glycogen synthase kinase-3beta genetic polymorphism and late-onset Alzheimer's disease
    Ignacio Mateo
    Neurology Service, Marqués de Valdecilla University Hospital University of Cantabria, Santander, Spain
    Dement Geriatr Cogn Disord 21:228-32. 2006
    ..Our results indicate that both the GSK-3beta (-50) and STH (Q7R) polymorphisms increase the risk of late-onset (subjects >72 years) AD, although they appear to be independent and thus not to interact synergistically...
  18. ncbi request reprint Interleukin-8, intercellular adhesion molecule-1 and tumour necrosis factor-alpha gene polymorphisms and the risk for multiple system atrophy
    Jon Infante
    Neurology Service, University Hospital Marques de Valdecilla, University of Cantabria, 39008 Santander, Spain
    J Neurol Sci 228:11-3. 2005
    ..These data support a role for inflammation-related genes in risk for MSA...
  19. ncbi request reprint No association between low density lipoprotein receptor genetic variants and Alzheimer's disease risk
    Eloy Rodriguez
    Neurology Service, Marqués de Valdecilla University Hospital University of Cantabria, Santander, Spain
    Am J Med Genet B Neuropsychiatr Genet 141:541-3. 2006
    ..The current study does not demonstrate an association between LDLR genotypes or haplotypes and AD, neither in the total sample nor when the populations were stratified for the presence or absence of the APOE epsilon4 allele...
  20. ncbi request reprint Age-dependent association of KIBRA genetic variation and Alzheimer's disease risk
    Eloy Rodríguez-Rodríguez
    Neurology Service, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
    Neurobiol Aging 30:322-4. 2009
    ..The current study reveals that KIBRA (rs17070145) T allele (CT and TT genotypes) is associated with an increased risk (OR 2.89; p=0.03) for very-late-onset (after the age of 86 years) AD...
  21. ncbi request reprint No synergistic effect between -850 tumor necrosis factor-alpha promoter polymorphism and apolipoprotein E epsilon 4 allele in Alzheimer's disease
    Jon Infante
    Service of Neurology, University Hospital Marques de Valdecilla, University of Cantabria, 39008 Santander, Spain
    Neurosci Lett 328:71-3. 2002
    ....
  22. ncbi request reprint Polymorphism at codon 469 of the intercellular adhesion molecule-1 gene is not associated with sporadic Alzheimer's disease
    Lucia Rodero
    Neurology Service, University Hospital Marques de Valdecilla, University of Cantabria, 39008 Santander, Spain
    Am J Med Genet B Neuropsychiatr Genet 126:66-8. 2004
    ..Our study in the Spanish population argues against the hypothesis that polymorphism at codon 469 of the ICAM-1 gene is causally related to AD...
  23. doi request reprint High frequency and reduced penetrance of LRRK2 G2019S mutation among Parkinson's disease patients in Cantabria (Spain)
    Maria Sierra
    Service of Neurology, University Hospital Marques de Valdecilla, University of Cantabria, Santander, Spain
    Mov Disord 26:2343-6. 2011
    ..At the age of 80 years only one-half of G2019S mutation carriers manifest motor symptoms of PD...
  24. ncbi request reprint Stiff man-like syndrome and generalized myokymia in spinocerebellar ataxia type 3
    Jose Berciano
    Service of Neurology, University Hospital Marques de Valdecilla, UC Santander, Spain
    Mov Disord 21:1031-5. 2006
    ..We conclude that an excess of motor unit activity including stiff man-like syndrome and widespread myokymia may be an integral part of the SCA3 clinical spectrum...
  25. ncbi request reprint Polymorphism at codon 66 of the brain-derived neurotrophic factor gene is not associated with sporadic Alzheimer's disease
    Onofre Combarros
    Neurology Service, University Hospital Marques de Valdecilla, University of Cantabria, Santander, Spain
    Dement Geriatr Cogn Disord 18:55-8. 2004
    ..Our study in the Spanish population argues against the hypothesis that this polymorphism is causally related to AD...
  26. ncbi request reprint The chemokine receptor CCR5-Delta32 gene mutation is not protective against Alzheimer's disease
    Onofre Combarros
    Service of Neurology, University Hospital Marques de Valdecilla, University of Cantabria, 39008 Santander, Spain
    Neurosci Lett 366:312-4. 2004
    ..The frequency of the CCR5-Delta32 allele in our AD sample was 7.8%, not significantly different from our control sample group (5.8%). The present study indicates that the CCR5-Delta32 allele is not a preventive factor for AD...
  27. ncbi request reprint Gene dose-dependent association of interleukin-1A [-889] allele 2 polymorphism with Alzheimer's disease
    Onofre Combarros
    Neurology Service, University Hospital Marques de Valdecilla, University of Cantabria, 39008 Santander, Spain
    J Neurol 249:1242-5. 2002
    ..99-1.94, P for trend = 0.0004). Furthermore, the risk associated with the IL-1A allele 2 was not restricted to AD patients of a particular age, and we could confirm this association in our early-onset and late-onset AD patients...
  28. ncbi request reprint Association of genetic variants of ABCA1 with Alzheimer's disease risk
    Eloy Rodríguez-Rodríguez
    Neurology Service, Marqués de Valdecilla University Hospital University of Cantabria, 39008 Santander, Spain
    Am J Med Genet B Neuropsychiatr Genet 144:964-8. 2007
    ....
  29. doi request reprint APOE dependent-association of PPAR-γ genetic variants with Alzheimer's disease risk
    Onofre Combarros
    Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Marqués de Valdecilla University Hospital University of Cantabria, Santander, Spain
    Neurobiol Aging 32:547.e1-6. 2011
    ..001, permutation p=0.006, Bonferroni corrected p=0.021), with a frequency of 39% in cases and 50% in controls. Our data suggest that PPAR-γ genetic variants may modify the risk of AD in an APOE ε4 allele-dependent fashion...
  30. ncbi request reprint Polymorphism at codon 174 of the prion-like protein gene is not associated with sporadic Alzheimer's disease
    Jon Infante
    Service of Neurology, University Hospital Marques de Valdecilla, University of Cantabria, 39008 Santander, Spain
    Neurosci Lett 332:213-5. 2002
    ..Our study in the Spanish population argues against the hypothesis that the PRND gene is causally related to AD...
  31. ncbi request reprint No evidence for association of the monocyte chemoattractant protein-1 (-2518) gene polymorphism and Alzheimer's disease
    Onofre Combarros
    Service of Neurology, University Hospital Marques de Valdecilla, University of Cantabria, 39008 Santander, Spain
    Neurosci Lett 360:25-8. 2004
    ..In the present study, neither the MCP-1 (-2518) G allele itself nor its interaction with the IL-1A (-889) allele 2, TNF-alpha (-850) allele T or APOE epsilon4 allele conferred increased risk for AD...
  32. doi request reprint Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family
    Elena Gallardo
    Service of Radiology, University Hospital Marques de Valdecilla, Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas, University of Cantabria, 39008 Santander, Spain
    J Neurol 256:2061-71. 2009
    ..MRI examination helps to delineate an accurate extent of muscle involvement in the disease...
  33. ncbi request reprint The myeloperoxidase gene in Alzheimer's disease: a case-control study and meta-analysis
    Onofre Combarros
    Service of Neurology, University Hospital Marques de Valdecilla, University of Cantabria, 39008 Santander, Spain
    Neurosci Lett 326:33-6. 2002
    ..83) odds ratio of 1.02 for the MPO GG genotype. Our study in the Spanish population as well as the meta-analysis argue against the hypothesis that the MPO gene is causally related to AD...
  34. ncbi request reprint Genetic association of CYP46 and risk for Alzheimer's disease
    Onofre Combarros
    Neurology Service, Marqués de Valdecilla University Hospital University of Cantabria, Santander, Spain
    Dement Geriatr Cogn Disord 18:257-60. 2004
    ..Our results indicate that the intron 2 CYP46 C/C genotype may predispose to AD, and this association is independent of the apolipoprotein E genotype...
  35. ncbi request reprint Interaction between CYP19 aromatase and butyrylcholinesterase genes increases Alzheimer's disease risk
    Onofre Combarros
    Neurology Service, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
    Dement Geriatr Cogn Disord 20:153-7. 2005
    ..85, p=0.03). Our findings suggest that the CYP19 and BCHE polymorphisms may interact in determining the risk of AD...
  36. ncbi request reprint Interaction of the H63D mutation in the hemochromatosis gene with the apolipoprotein E epsilon 4 allele modulates age at onset of Alzheimer's disease
    Onofre Combarros
    Unit of Neurology, Marques de Valdecilla University Hospital, University of Cantabria, Spain
    Dement Geriatr Cogn Disord 15:151-4. 2003
    ....
  37. ncbi request reprint Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease
    Jon Infante
    Service of Neurology, University Hospital Marqués de Valdecilla University of Cantabria, Santander, Spain
    Mov Disord 19:848-52. 2004
    ..We conclude that motor neuron symptoms and signs may be a striking manifestation in SCA2, masking pre-existing cerebellar and extrapyramidal semeiology...
  38. ncbi request reprint Interleukin-1A (-889) genetic polymorphism increases the risk of multiple system atrophy
    Onofre Combarros
    Neurology Service, University Hospital Marques de Valdecilla, University of Cantabria, Santander, Spain
    Mov Disord 18:1385-6. 2003
    ....
  39. doi request reprint Masseter reflex in the study of spinocerebellar ataxia type 2 and type 3
    Antonio Garcia
    Service of Clinical Neurophysiology, Marques de Valdecilla, University Hospital, Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas, 39008 Santander, Spain
    Muscle Nerve 40:640-2. 2009
    ..Masseter reflex abnormalities in SCA2 patients could be better explained by dysfunction of the mesencephalic trigeminal nucleus/tract...
  40. doi request reprint New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication
    Jose Berciano
    Service of Neurology, University Hospital Marqués de Valdecilla IFIMAV, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas CIBERNED, University of Cantabria UC, 39008 Santander, Spain
    J Neurol 258:1594-602. 2011
    ..Selective denervation of intrinsic foot musculature, particularly of the lumbricals, and not imbalance of lower-leg muscles, seems to be the initial mechanism causing reduced ankle flexibility and forefoot cavus deformity...
  41. doi request reprint Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation
    Jose Berciano
    Service of Neurology, University Hospital Marqués de Valdecilla IFIMAV, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas CIBERNED, University of Cantabria UC, 39008 Santander, Spain
    J Neurol 258:1413-21. 2011
    ..We conclude that non-penetrance may be an integral feature of neuropathic syndromes associated with TRPV4 gene mutation...
  42. ncbi request reprint Very late-onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type
    Jose Berciano
    Department of Neurology, University Hospital Marques de Valdecilla, University of Cantabria, Santander, Spain
    Mov Disord 20:1643-5. 2005
    ..We detected several atypical features for a diagnosis of MSA, which should alert to the possibility of an inherited ataxia...
  43. doi request reprint Clinical progression in Charcot-Marie-Tooth disease type 1A duplication: clinico-electrophysiological and MRI longitudinal study of a family
    Jose Berciano
    Service of Neurology, University Hospital Marqués de Valdecilla IFIMAV, University of Cantabria and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, 39008, Santander, Spain
    J Neurol 257:1633-41. 2010
    ....
  44. ncbi request reprint Gene-gene interaction between interleukin-6 and interleukin-10 reduces AD risk
    J Infante
    Neurology Service, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
    Neurology 63:1135-6. 2004
  45. ncbi request reprint Lack of association between cathepsin D genetic polymorphism and Alzheimer disease in a Spanish sample
    Ignacio Mateo
    Neurology Service, Marques de Valdecilla University Hospital, Santander, Spain
    Am J Med Genet 114:31-3. 2002
    ..We did not observe any association between the T-allele of the catD gene and the disease. Furthermore, catD was not predictive of AD in an interactive fashion when considering apolipoprotein E, age, or gender...
  46. doi request reprint Periodic eye opening and swallowing movements associated with post-anoxic burst-suppression EEG pattern
    Jose L Fernandez-Torre
    Department of Clinical Neurophysiology, Marqués de Valdecilla University Hospital IFIMAV, Santander, Cantabria, Spain
    Epileptic Disord 10:19-21. 2008
    ..These movements were associated with a burst-suppression pattern on the electroencephalogram. [Published with video sequences]...
  47. doi request reprint Aromatase and interleukin-10 genetic variants interactively modulate Alzheimer's disease risk
    O Combarros
    Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Marqués de Valdecilla University Hospital University of Cantabria, Santander, Spain
    J Neural Transm 115:863-7. 2008
    ..Subjects carrying both the aromatase (5 -UTR) GG and the IL-10 (-1082) GG genotypes had a six times lower risk of developing AD than subjects without these risk genotypes (OR = 0.17, 95% CI = 0.04-0.77, P = 0.02)...
  48. pmc Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study
    J Berciano
    Service of Neurology, University Hospital Marqués de Valdecilla IFIMAV, University of Cantabria, 39008 Santander, Spain
    J Neurol Neurosurg Psychiatry 77:1169-76. 2006
    ....
  49. ncbi request reprint Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis
    J Infante
    Neurology Service, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
    Acta Neurol Scand 111:391-9. 2005
    ..The genetic and clinical profile of autosomal dominant cerebellar ataxias (ADCA) displays marked geographical and ethnical variability...
  50. ncbi request reprint Necrotizing leukoencephalopathy associated with nonconvulsive status epilepticus and periodic short-interval diffuse discharges: a clinicopathological study
    J L Fernández-Torre
    Department of Clinical Neurophysiology, University Hospital Marques de Valdecilla, Santander, Cantabria, Spain
    Clin EEG Neurosci 37:50-3. 2006
    ..Prominent subcortical white matter lesions in keeping with the diagnosis of multifocal necrotizing leukoencephalopathy may be neuropathological substrate of NCSE with persistent PSIDDs...
  51. ncbi request reprint Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype
    J Berciano
    Service of Neurology, Marques de Valdecilla University Hospital, Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas, University of Cantabria, Santander, Spain
    J Neurol Neurosurg Psychiatry 79:205-8. 2008
    ..To describe the clinical phenotype of an autosomal-dominant pedigree with myotilinopathy...
  52. ncbi request reprint Cholesteryl ester transfer protein (CETP) polymorphism modifies the Alzheimer's disease risk associated with APOE epsilon4 allele
    E Rodriguez
    Neurology Service, University Hospital Marques de Valdecilla, University of Cantabria, Santander, Spain
    J Neurol 253:181-5. 2006
    ..001). Our data suggest that CETP behaves as a modifier gene of the AD risk associated with the APOE epsilon4 allele, possibly through modulation of brain cholesterol metabolism...
  53. doi request reprint Substantia nigra echogenicity in Friedreich's ataxia patients
    Maria Sierra
    Service of Neurology, University Hospital Marqués de Valdecilla IFIMAV, 39008, Santander, Spain
    Cerebellum 12:437-40. 2013
    ..We conclude that our data do not support the notion that SN hypoechogenicity is related to FRDA itself, although it might be associated with RLS...
  54. doi request reprint Magnetic resonance imaging of lower limb musculature in acute motor axonal neuropathy
    Jose Berciano
    Service of Neurology, University Hospital Marques de Valdecilla, IFIMAV, Santander, Spain
    J Neurol 259:1111-6. 2012
    ..There was good concordance between clinico-electrophysiological and MRI findings. We conclude that serial MRI may be very useful to evaluate the extent of muscle denervation and to assess clinical course in AMAN...
  55. ncbi request reprint Serum levels and genetic variation of TGF-beta1 are not associated with Alzheimer's disease
    E Rodriguez-Rodriguez
    Neurology Service, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
    Acta Neurol Scand 116:409-12. 2007
    ....
  56. ncbi request reprint Case-control study and meta-analysis of low density lipoprotein receptor-related protein gene exon 3 polymorphism in Alzheimer's disease
    M Sánchez-Guerra
    Service of Neurology, University Hospital Marques de Valdecilla, 39008 Santander, Spain
    Neurosci Lett 316:17-20. 2001
    ..In the current study, the LRP CC genotype was not over-represented in AD patients compared to non-demented controls. A meta-analysis of previous studies revealed a weak correlation of LRP CC genotype with AD (odds ratio of 1.35, P=0.01)...
  57. doi request reprint Serum heme oxygenase-1 levels are increased in Parkinson's disease but not in Alzheimer's disease
    I Mateo
    Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Marqués de Valdecilla University Hospital University of Cantabria, Santander, Spain
    Acta Neurol Scand 121:136-8. 2010
    ..The role of HO-1 in peripheral blood of PD and AD patients remains unresolved...
  58. ncbi request reprint Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion
    J Infante
    Service of Neurology, , 39008 Santander, Spain
    Muscle Nerve 24:1149-55. 2001
    ..In sporadic cases due to a de novo deletion, electrophysiologic studies were suggestive but not sufficient for the diagnosis, and molecular analysis represented the most sensitive diagnostic tool...
  59. doi request reprint Gene-gene interaction between 14-3-3 zeta and butyrylcholinesterase modulates Alzheimer's disease risk
    I Mateo
    Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
    Eur J Neurol 15:219-22. 2008
    ..21-1.00, P = 0.05) had a lower risk of developing AD than subjects without these risk genotypes. Considering synergistic effects between polymorphisms in tau phosphorylation relate-genes may help in determining the risk profile for AD...
  60. doi request reprint Epistasis between tau phosphorylation regulating genes (CDK5R1 and GSK-3beta) and Alzheimer's disease risk
    I Mateo
    Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Marques de Valdecilla University Hospital, University of Cantabria, Santander, Spain
    Acta Neurol Scand 120:130-3. 2009
    ..As both CDK5R1 and GSK-3beta genes are related to phosphorylation of tau, we examined the combined contribution of these genes to the susceptibility for AD...
  61. ncbi request reprint Interaction between interleukin-6 and intercellular adhesion molecule-1 genes and Alzheimer's disease risk
    Onofre Combarros
    J Neurol 252:485-7. 2005
  62. ncbi request reprint Interaction between estrogen receptor-alpha and butyrylcholinesterase genes modulates Alzheimer's disease risk
    Onofre Combarros
    J Neurol 254:1290-2. 2007
  63. ncbi request reprint Interaction between prion protein and interleukin-1A genes increases early-onset Alzheimer's disease risk
    Onofre Combarros
    J Neurol 254:115-7. 2007
  64. ncbi request reprint Gene-gene interaction between interleukin-1A and interleukin-8 increases Alzheimer's disease risk
    Jon Infante
    J Neurol 251:482-3. 2004
  65. ncbi request reprint Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
    Chiara Criscuolo
    Department of Neurological Sciences, Federico II University, Naples, Italy
    Mov Disord 20:1358-61. 2005
    ..7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease...
  66. ncbi request reprint Age-dependent association between interleukin-1A (-889) genetic polymorphism and sporadic Alzheimer's disease. A meta-analysis
    Onofre Combarros
    J Neurol 250:987-9. 2003
  67. ncbi request reprint Genetic interaction between two apolipoprotein E receptors increases Alzheimer's disease risk
    Eloy Rodriguez
    J Neurol 253:801-3. 2006