212 results on '"Serratosa, Jose M."'
Search Results
2. Epm2aR240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a−/− mice
3. Number needed to treat and associated cost analysis of cenobamate versus third-generation anti-seizure medications for the treatment of focal-onset seizures in patients with drug-resistant epilepsy in Spain
4. Efficacy and safety of adjunctive cenobamate: Post-hoc analysis of study C017 in patients grouped by mechanism of action of concomitant antiseizure medications
5. An empirical pipeline for personalized diagnosis of Lafora disease mutations
6. Practical guidance for the management of adults receiving adjunctive cenobamate for the treatment of focal epilepsy—expert opinion
7. Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)
8. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
9. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
10. Effect of intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice
11. Long-term efficacy and safety of lacosamide monotherapy in the treatment of partial-onset seizures: A multicenter evaluation
12. Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene
13. Progressive Myoclonic Epilepsies: Overview
14. Other Progressive Myoclonic Epilepsies
15. Lafora Disease
16. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies
17. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly
18. Validation of the Spanish version of the Side Effect and Life Satisfaction Inventory in patients with epilepsy
19. Mild Lafora disease: Clinical, neurophysiologic, and genetic findings
20. Unverricht-Lundborg Disease
21. The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic
22. Tailored resections in occipital lobe epilepsy surgery guided by monitoring with subdural electrodes: Characteristics and outcome
23. An Empirical Pipeline for Personalized Diagnosis of Lafora Disease Mutations
24. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
25. Urolithiasis, Uric Acid
26. Uric Acid Stones
27. Urate Gout
28. Udd Myopathy
29. Unstable Hemoglobin Disease
30. β-UP
31. Uric Acid Urolithiasis
32. Urbach-Wiethe Disease
33. Ullrich-Turner Syndrome
34. Undescended Testis
35. UDH
36. Upshaw-Schulman Syndrome
37. Uromodulin Associated Kidney Disease
38. Urticaria Neonatorum
39. Urolithiasis, Calcium Oxalate
40. Ullrich Congenital Muscular Dystrophy
41. Usher Syndrome
42. Uromodulin Storage Disease
43. Urinary Tract Obstruction
44. Uridine Monophosphate Synthase Deficiency
45. Uroporphyrinogen I-Synthase (UROS-I) Deficiency
46. β-Ureidopropionase Deficiency
47. Urea Cycle Disorders
48. Unverricht-Lundborg Disease
49. Ureteral Obstruction
50. Umbilical Enteric Fistula
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