231 results on '"Monfrini, Edoardo"'
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2. Family History in Parkinson's Disease: A National Cross‐Sectional Study.
3. Dystonic Tremor as Main Clinical Manifestation of SCA21.
4. Clinical uses of Bupropion in patients with Parkinson’s disease and comorbid depressive or neuropsychiatric symptoms: a scoping review
5. Soft cerebellar signs unveil RARS2‐related epilepsy
6. Unleashing the potential of mRNA therapeutics for inherited neurological diseases
7. Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.
8. Neurosteroid Levels in GBA Mutated and Non-Mutated Parkinson's Disease: A Possible Factor Influencing Clinical Phenotype?
9. A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism
10. Hallucinations in Neurological Disorders
11. Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy
12. Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia
13. Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome
14. Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson’s Disease
15. A novel pathogenic PSEN1 variant in a patient with dystonia-parkinsonism without dementia
16. The unexpected finding of CNS autoantibodies in GBA1 mutation carriers with atypical parkinsonism
17. GABRB1‐related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation
18. Chorea‐Acanthocytosis Presenting with Parkinsonism‐Dystonia without Chorea
19. Levodopa responsive asymmetric parkinsonism as clinical presentation of progranulin gene mutation.
20. A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1
21. A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation
22. Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
23. Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations
24. Brain Calcifications: Genetic, Molecular, and Clinical Aspects
25. Abnormalities of lipid metabolism in neuronal models of CoQ10 deficiency (S49.004)
26. Reply to: “Lack of Association betweenTWNKRare Variants and Parkinson's Disease in a Chinese Cohort”
27. Are patients with GBA–Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort
28. Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
29. Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview
30. Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
31. Deconstructing speech alterations in episodic ataxia type 2: Perceptual-acoustic analysis in a case due to CACNA1A gene mutation
32. Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope?
33. Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant
34. RAB32 mutation in Parkinson's disease.
35. BiallelicSTAB1pathogenic variants cause hereditary hyperferritinemia
36. Juvenile-onset dystonia with spasticity in Leigh syndrome caused by a novel NDUFA10 variant
37. Reply to: No Association between RareTWNKVariants and Parkinson's Disease in European Cohorts
38. Adult-onset KMT2B-related dystonia
39. Clinical Reasoning: A 75-year-old man with parkinsonism, mood depression, and weight loss
40. Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease.
41. Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?
42. TWNKin Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study
43. Cognitive and Autonomic Dysfunction in Multiple System Atrophy Type P and C: A Comparative Study
44. Progressive myoclonus without epilepsy due to a NUS1 frameshift insertion: Dyssynergia cerebellaris myoclonica revisited
45. Cognitive and Autonomic Dysfunction in Multiple System Atrophy Type P and C: A Comparative Study
46. Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease
47. VPS13C-associated Parkinson's disease: Two novel cases and review of the literature
48. Dysautonomia in Parkinson’s Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control
49. A Practical Approach to Early-Onset Parkinsonism
50. NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?
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