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. A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathy
6. Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia
7. Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease – case series and review.
8. Abdominal wall muscle fatty replacement and enlargement in autosomal dominant calpainopathy-3
9. Adolescent-onset multisystem proteinopathy due to a novel VCP variant
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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