16 results on '"Tomelleri, Giuliano"'
Search Results
2. Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes
3. A 5-year clinical follow-up study from the Italian National Registry for FSHD
4. Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis
5. A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes
6. Muscle biopsy features of idiopathic inflammatory myopathies and differential diagnosis
7. Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy
8. Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy
9. The role of mitochondria in neurodegenerative diseases
10. Systemic sclerosis and superficial siderosis of the central nervous system: casuality or causality?
11. Neuropathology of mitochondrial diseases
12. Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation
13. Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease)
14. Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease
15. Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases
16. Antisulfatide polyneuropathy: antibody-mediated complement attack on peripheral myelin
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.