15 results on '"Comi, Giacomo Pietro"'
Search Results
2. Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
3. Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis
4. Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy
5. Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy
6. Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study
7. Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis
8. Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes
9. Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression
10. Adeno-Associated Virus (AAV)-Mediated Gene Therapy for Duchenne Muscular Dystrophy: The Issue of Transgene Persistence
11. Sodium Levels Predict Disability at Discharge in Guillain-Barré Syndrome: A Retrospective Cohort Study
12. Ophthalmoplegia Due to Miller Fisher Syndrome in a Patient With Myasthenia Gravis
13. Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients
14. Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature
15. Central Nervous System Involvement in Common Variable Immunodeficiency: A Case of Acute Unilateral Optic Neuritis in a 26-Year-Old Italian Patient
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.