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Your search keyword '"Jesús Esteban-Pérez"' showing total 22 results

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22 results on '"Jesús Esteban-Pérez"'

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1. Characterizing <scp> SOD1 </scp> mutations in Spain: The impact of genotype, age and sex in the natural history of the disease

2. Dimensionality reduction and recurrence analysis reveal hidden structures of striatal pathological states

3. Bethlem myopathy: a series of 16 patients and description of seven new associated mutations

4. Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis

5. Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

6. Genetic biomarkers for ALS disease in transgenic SOD1 G93A mice

7. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

8. Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation inMYH2

9. A milder phenotype of megaconial congenital muscular dystrophy due to a novelCHKBmutation

10. Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the

11. Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

12. Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation

13. Familial primary lateral sclerosis or dementia associated with Arg573Gly

15. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

16. Neuregulin-1 promotes functional improvement by enhancing collateral sprouting in SOD1G93A ALS mice and after partial muscle denervation

17. Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

18. Change in network connectivity during fictive-gasping generation in hypoxia: prevention by a metabolic intermediate

19. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

20. Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

22. Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide

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