708 results on '"Garavaglia, Barbara"'
Search Results
2. CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
3. Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years
4. Disorders of Glycolysis Glycolysis disorders and the Pentose Phosphate Pathway Pentose phosphate pathway disorders
5. Primary brain calcification: an international study reporting novel variants and associated phenotypes.
6. A Map of Human Mitochondrial Protein Interactions Linked to Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and NF-κB Signaling.
7. Illustration of the Long-Term Efficacy of Pallidal Deep Brain Stimulation in a Patient with PKAN Dystonia
8. Pure Parkinsonism as Possible Phenotype Expansion of THAP1‐Related Disorders
9. Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation
10. Disorders of Glycolysis and the Pentose Phosphate Pathway
11. CIAO1 and MMS19 de fi ciency : A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
12. The Role of VPS35 in the Pathobiology of Parkinson’s Disease
13. Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series
14. Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant
15. Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia
16. ANO3 as a Cause of Early‐Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution
17. Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment inGBA-associated Parkinson’s disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol
18. Clinical, molecular and glycophenotype insights in SLC39A8-CDG
19. Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
20. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis
21. Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy
22. The Clinical Spectrum of ANO3—Report of a New Family and Literature Review.
23. WDR45-dependent impairment of cell cycle in fibroblasts of patients with beta propeller protein-associated neurodegeneration (BPAN)
24. Unraveling Autonomic Dysfunction in GBA‐Related Parkinson's Disease
25. A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation
26. Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?
27. NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
28. Disorders of Glycolysis and the Pentose Phosphate Pathway
29. ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients
30. Idiopathic brain calcification in a patient with hereditary hemochromatosis
31. Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
32. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
33. Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
34. MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism
35. Adult diagnosis of Cockayne syndrome
36. Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature
37. A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature
38. Two Cases ofTMEM151A‐Associated Paroxysmal Dyskinesia in a Single‐Center Series of PRRT2 ‐Negative Patients
39. Variants in ATP5F1B are associated with dominantly inherited dystonia
40. Episignature analysis of moderate effects and mosaics
41. Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype
42. Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report.
43. ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome
44. The relevance of gender in Parkinson’s disease: a review
45. Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation
46. Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy
47. Adult-onset KMT2B-related dystonia
48. Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype
49. A PDE10A de novo mutation causes childhood‐onset chorea with diurnal fluctuations
50. Genetics, sex, and gender.
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