17 results on '"Milone, Margherita"'
Search Results
2. Adolescent-Onset Multisystem Proteinopathy due to a Novel VCP Variant
3. Cancer-associated regional ischemic myopathy: a rare myopathy
4. Glycogen accumulation in GNE myopathy
5. Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia
6. A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathy
7. Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease – case series and review.
8. Adolescent-onset multisystem proteinopathy due to a novel VCP variant
9. Abdominal wall muscle fatty replacement and enlargement in autosomal dominant calpainopathy-3
10. Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations
11. A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy
12. A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission
13. ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles
14. Abdominal wall muscle fatty replacement and enlargement in autosomal dominant calpainopathy-3
15. Autosomal dominant distal myopathy due to a novel ACTA1 mutation
16. Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants
17. Amyloidosis and exercise intolerance in ANO5 muscular dystrophy
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