231 results on '"La Piana, Roberta"'
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2. An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders
3. A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism
4. CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias
5. White matter abnormalities in 15 subjects with SPG76
6. Enhancing Variant of Uncertain Significance (VUS) Interpretation in Neurogenetics: Collaborative Experiences from a Tertiary Care Centre
7. Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series
8. Cortical and subcortical morphological alterations in motor subtypes of Parkinson’s disease
9. MRI‐ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
10. Resting-state Functional Connectivity in Children and Adults with Spinal Muscular Atrophy (P2-11.002)
11. Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.
12. The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings
13. Efficacy of whole exome sequencing re-analysis in adult-onset leukodystrophies
14. GAA-FGF14 ataxia: Exploring the clinical phenotype in a large French-Canadian cohort
15. Neuroradiological findings in GAA-FGF14 ataxia: Qualitative retrospective review and volumetric analysis in a series of 26 subjects
16. Mitochondrial MS mimickers: A literature review and a novel form associated to variants in the TUFM gene
17. A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia
18. Expanding the spectrum of white matter abnormalities in Wolfram syndrome: A retrospective review of six cases
19. Elucidating the impact of CSF1R variants on microglia development and function using patient-derived IPSCS
20. Characterization of brain white matter pathology in spinal muscular atrophy
21. Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period
22. 3T MRI study discloses high intrafamilial variability in CADASIL due to a novel NOTCH3 mutation
23. Brain functional organization and structure in patients with arteriovenous malformations
24. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
25. Spectrum of white matter abnormalities associated with FOXC1‐related disorders in two unrelated cases
26. A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism
27. Chapter 19 - General approach to treatment of genetic leukoencephalopathies in children and adults
28. Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease
29. Prevalence of Peripheral Nervous System Involvement in Adult Leukodystrophies (P2-5.031)
30. Optimized testing strategy for the diagnosis of GAA-FGF14ataxia
31. TUFM variants lead to white matter abnormalities mimicking multiple sclerosis.
32. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
33. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
34. Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype
35. Neuro-Ophthalmological Disorders in Cerebral Palsy: Ophthalmological, Oculomotor, and Visual Aspects
36. Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia
37. The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders
38. Repetitive Transcranial Magnetic Stimulation improves neuropsychiatric manifestations in Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (P1-1.Virtual)
39. White Matter Involvement in SPG76. A Retrospective MRI Analysis of 11 Subjects. (P1-1.Virtual)
40. Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family
41. A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia
42. Repetitive Transcranial Magnetic Stimulation Improves Neuropsychiatric Manifestations in Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
43. A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids
44. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA
45. POLR3A and POLR3B Mutations in Unclassified Hypomyelination
46. Spastic Paraparesis and Marked Improvement of Leukoencephalopathy in Aicardi-Goutières Syndrome
47. Placental Histological Features and Neurodevelopmental Outcomes at Two Years in Very-Low-Birth-Weight Infants
48. Adult Hereditary White Matter Diseases With Psychiatric Presentation: Clinical Pointers and MRI Algorithm to Guide the Diagnostic Process
49. COVID-19 and disease-modifying therapies in patients with demyelinating diseases of the central nervous system: A systematic review
50. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
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