19 results on '"Simonati, Alessandro"'
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2. Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders
3. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study
4. Survey on treatments for primary headaches in 13 specialized juvenile Headache Centers: The first multicenter Italian study
5. Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review
6. Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells
7. Enhanced expression of the autophagosomal marker LC3-II in detergent-resistant protein lysates from a CLN3 patient's post-mortem brain
8. NCL diseases — clinical perspectives
9. Human pathology in NCL
10. C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation
11. GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings
12. Variant Late Infantile Neuronal Ceroid Lipofuscinosis Because of CLN1 Mutations
13. Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities
14. Quantitative analysis of PPT1 interactome in human neuroblastoma cells
15. Involvement of the mitochondrial compartment in human NCL fibroblasts
16. Chapter 22 - Ataxia in mitochondrial disorders
17. Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6
18. Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations
19. Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis
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