41 results on '"Bianchi, Maria Laura Ester"'
Search Results
2. Efficacy of safinamide on non-motor symptoms in a cohort of patients affected by idiopathic Parkinson’s disease
3. fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1
4. Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors
5. Correction to: Efficacy of safinamide on non-motor symptoms in a cohort of patients affected by idiopathic Parkinson’s disease
6. Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2
7. Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
8. Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2
9. Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes
10. Lack of Any Cardiac Involvement in a Patient with Andersen-Tawil Syndrome Associated with the c.574A→G Mutation in KCNJ2
11. Spectral domain optical coherence tomography findings in myotonic dystrophy
12. Correction to: Efficacy of safinamide on non-motor symptoms in a cohort of patients affected by idiopathic Parkinson’s disease (Neurological Sciences, (2019), 40, 2, (275-279), 10.1007/s10072-018-3628-3)
13. Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors
14. Correction to: Efficacy of safinamide on non-motor symptoms in a cohort of patients affected by idiopathic Parkinson’s disease
15. Efficacy of safinamide on non-motor symptoms in a cohort of patients affected by idiopathic Parkinson’s disease
16. Central Nervous System involvement in Myotonic Dystrophies
17. An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy.
18. Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors (J Nerol, 10.1007/s00415-015-8006-y)
19. Author response
20. An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy
21. Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)
22. Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)
23. Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes
24. Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.
25. Abnormal Functional Brain Connectivity and Personality Traits in Myotonic Dystrophy Type 1
26. Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS
27. Polymorphisms of Dopamine Receptor Genes and Risk of L-Dopa-Induced Dyskinesia in Parkinson's Disease.
28. Alternative splicing alterations of Ca2+handling genes are associated with Ca2+signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes
29. Spectral Domain Optical Coherence Tomography Findings in Myotonic Dystrophy. (P2.289)
30. Fibular nerve neurotmesis secondary to knee trauma: A diagnosis requiring nerve ultrasound
31. Remitting-Relapsing Carbamazepine Overdosage Mimicking Vertebrobasilar Transient Ischemic Attacks
32. Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study
33. Double site nerve lesion: ultrasound diagnosed musculocutaneous involvement in traumatic Brachial Plexus injury
34. Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2
35. Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions
36. Double site nerve lesion: Ultrasound diagnosed musculocutaneous involvement in traumatic brachial plexus injury
37. Positive outcome in a patient with Wilson's disease treated with reduced zinc dosage in pregnancy
38. Lack of Any Cardiac Involvement in a Patient with Andersen-Tawil Syndrome Associated with the c.574A→G Mutation in KCNJ2
39. Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 ( DM1) and type 2 ( DM2) myotubes.
40. Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.
41. Positive outcome in a patient with Wilson's disease treated with reduced zinc dosage in pregnancy.
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