208 results on '"Hernandez-Lain A"'
Search Results
2. Low rCBV values in glioblastoma tumor progression under chemoradiotherapy
3. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
4. Cerebral amyloid angiopathy–related inflammation: clinical features and treatment response in a case series
5. Inflamación relacionada con angiopatía amiloide: características clínicas y respuesta al tratamiento en una serie de casos
6. Machine learning identifies experimental brain metastasis subtypes based on their influence on neural circuits
7. BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients
8. A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues
9. Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy.
10. Perfusion MRI grading diffuse gliomas: Impact of permeability parameters on molecular biomarkers and survival
11. Evaluación de la correlación entre degeneración histológica y parámetros radiológicos o clínicos en una serie de pacientes operados por hernia discal lumbar
12. O02 Unpacking gene expression profile to the single nuclei level in human muscle Pompe samples
13. Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations
14. Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
15. Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations
16. Craniopharyngioma and abscess: When tumor and infection co-exist
17. Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations
18. Leakage decrease detected by dynamic susceptibility-weighted contrast-enhanced perfusion MRI predicts survival in recurrent glioblastoma treated with bevacizumab
19. 124. ENFERMEDAD MITOCONDRIAL. BIOPSIA MUSCULAR Y GDF15
20. 115. CASO CLÍNICO-PATOLÓGICO. VARÓN CON TRASPLANTE CARDÍACO Y MÚLTIPLES LESIONES CEREBRALES
21. 117. POLIMIOSITIS CON FIBRAS COX NEGATIVAS. PRESENTACIÓN DE DOS CASOS Y REVISIÓN DE LA LITERATURA
22. 20675. CARACTERÍSTICAS SEROLÓGICAS, HISTOPATOLÓGICAS Y DIFICULTADES TERAPÉUTICAS DE UNA SERIE DE PACIENTES CON MIOPATÍA BRAQUIOCERVICAL INFLAMATORIA (BCIM)
23. 20481. MIOPATÍA DISTAL DOMINANTE DE INICIO EN LA EDAD ADULTA POR UNA NUEVA VARIANTE EN HETEROCIGOSIS EN EL GEN ACTN2
24. 20424. AUSENCIA DE MUTACIONES PATOGÉNICAS Y FUERTE ASOCIACIÓN CON HLA-DRB1*11:01 EN PACIENTES JÓVENES NO EXPUESTOS A ESTATINAS CON MIOPATÍA NECROTIZANTE ANTI-HMGCR
25. 20624. CARACTERÍSTICAS CLÍNICAS, PATOLÓGICAS Y GENÉTICAS DE 27 PACIENTES CON TRASTORNOS CAUSADOS POR VARIANTES PATOGÉNICAS EN POLG
26. 20484. MIOPATÍAS MITOCONDRIALES PRIMARIAS: CARACTERÍSTICAS BASALES Y POTENCIALES BIOMARCADORES A PARTIR DE UN ESTUDIO DE HISTORIA NATURAL
27. 20707. SERIE DE CASOS DE MIOPATÍAS DE PREDOMINIO AXIAL
28. Retrocerebellar Ependymal Cyst Presenting with Obstructive Hydrocephalus in an Infant
29. de novo RYR1 heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins
30. Functional evaluation of paraplegic monkeys ( Macaca mulatta) over fourteen months post-lesion
31. Clinical care and evolution of paraplegic monkeys ( Macaca mulatta) over fourteen months post-lesion
32. Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings
33. Correction to: SEOM clinical guidelines for anaplastic gliomas (2017)
34. Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye’s syndrome
35. Inhibition of DYRK1A destabilizes EGFR and reduces EGFR-dependent glioblastoma growth
36. Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency
37. A new muscle glycogen storage disease associated with glycogenin-1 deficiency
38. Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings
39. Atypical case of muscle-eye-brain disease with minimal myopathological changes: clinical features and molecular characterization: P13-102
40. Abnormal TDP-43 and FUS proteins in muscles of sporadic IBM: similarities in a TARDBP-linked ALS patient
41. Endoscopic Transnasal Trans-Sphenoidal Approach for Pituitary Adenomas: A Comparison to the Microscopic Approach Cohort by Propensity Score Analysis
42. Retrocerebellar Ependymal Cyst Presenting with Obstructive Hydrocephalus in an Infant
43. Imaging Features in Cerebral Amyloid Angiopathy
44. P.61 Imaging Mass Cytometry reveals new clues to understand the pathogenesis of Becker muscular dystrophy
45. Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis
46. Phase II trial of palbociclib in recurrent RB-positive anaplastic oligodendroglioma: A Spanish group for research in neurooncology (GEINO) trial
47. Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage
48. POMPE DISEASE AND METABOLIC DISORDERS
49. GEINO 1402: A phase Ib dose-escalation study followed by an extension phase to evaluate safety and efficacy of crizotinib in combination with temozolomide (TMZ) and radiotherapy (RT) in patients with newly diagnosed glioblastoma (GB)
50. Endoscopic Transnasal Trans-Sphenoidal Approach for Pituitary Adenomas: A Comparison to the Microscopic Approach Cohort by Propensity Score Analysis
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