565 results on '"López de Munain, Adolfo"'
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2. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
3. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
4. Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions
5. Oocyte electroporation prior to in vitro fertilization is an efficient method to generate single, double, and multiple knockout porcine embryos of interest in biomedicine and animal production
6. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
7. A multicentre validation study of the diagnostic value of plasma neurofilament light.
8. Executive functions and daily functioning in myotonic dystrophy type 1 ecological assessment with virtual reality
9. The parkinsonian LRRK2 R1441G mutation shows macroautophagy-mitophagy dysregulation concomitant with endoplasmic reticulum stress
10. A validated WAIS-IV short-form to estimate intellectual functioning in myotonic dystrophy type 1
11. Generation of Calpain-3 knock-out porcine embryos by CRISPR-Cas9 electroporation and intracytoplasmic microinjection of oocytes before insemination
12. Pathogenic LRRK2 regulates centrosome cohesion via Rab10/RILPL1-mediated CDK5RAP2 displacement
13. White matter integrity changes and neurocognitive functioning in adult-late onset DM1: a follow-up DTI study
14. Smoking is associated with age at disease onset in Parkinson's disease
15. CNS involvement in myotonic dystrophy type 1: does sex play a role?
16. Discovery of a novel family of FKBP12 “reshapers” and their use as calcium modulators in skeletal muscle under nitro-oxidative stress
17. The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics.
18. Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features
19. A mammalian-specific Alex3/Gα q protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival
20. Energy scarcity and impaired mitochondrial translation induce perinuclear stress granule clustering
21. The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3‐related muscular dystrophy
22. Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
23. Gut microbiome and serum metabolome analyses identify molecular biomarkers and altered glutamate metabolism in fibromyalgia
24. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study
25. Clinical and therapeutic features of myasthenia gravis in adults based on age at onset
26. Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease.
27. Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease.
28. The in-frame p.Lys254del-CAPN3 deletion is not sufficient to cause late-onset camptocormia in dominantly inherited calpainopathy
29. Nontraditional Lipid Variables Predict Recurrent Brain Ischemia in Embolic Stroke of Undetermined Source
30. Genealogy of the neurodegenerative diseases based on a meta-analysis of age-stratified incidence data
31. Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels
32. A mammalian-specific Alex3/Gαq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival.
33. iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology
34. Expanding the phenotypic spectrum ofTRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
35. Loss of the matrix metalloproteinase-10 causes premature features of aging in satellite cells
36. Data from Oncogenicity of the Developmental Transcription Factor Sox9
37. Supplementary Methods, Tables 1-3, Figure Legends 1-9 from Oncogenicity of the Developmental Transcription Factor Sox9
38. Supplementary Figures 1-9 from Oncogenicity of the Developmental Transcription Factor Sox9
39. Changes in Liver Lipidomic Profile in G2019S-LRRK2 Mouse Model of Parkinson’s Disease
40. Changes in Liver Lipidomic Profile in G2019S-LRRK2 Mouse Model of Parkinson’s Disease
41. Changes in Liver Lipidomic Profile in G2019S- LRRK2 Mouse Model of Parkinson's Disease
42. Loss of the matrix metalloproteinase-10 causes premature features of aging in satellite cells
43. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
44. Author Correction: A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
45. Isolation and characterization of myogenic precursor cells from human cremaster muscle
46. Progranulin Deficiency Induces Mitochondrial Dysfunction in Frontotemporal Lobar Degeneration with TDP-43 Inclusions
47. Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment
48. Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow‐up study
49. Senescence plays a role in myotonic dystrophy type 1
50. Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1)
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