Latest Research

  1. Serpentine Fibula Polycystic Kidney …
  2. Choroiditis- Serpiginous
  3. Microphthalmia Associated With …
  4. Deafness- Isolated- Due to …
  5. Deafness- Autosomal Recessive 55
  6. Epitheliopathy- Acute Posterior …
  7. Glycogen Storage Disease Type 3
  8. Glucocorticoid Sensitive Hypertension
  9. Urofacial Syndrome
  10. Spontaneous Pneumothorax Familial Type
  11. Snyder Robinson Syndrome
  12. XY Female

Research

  1. A
  2. B
  3. C
  4. D
  5. E
  6. F
  7. G
  8. H
  9. I
  10. J
  11. K
  12. L
  13. M
  14. N
  15. O
  16. P
  17. Q
  18. R
  19. S
  20. T
  21. U
  22. V
  23. W
  24. X
  25. Y
  26. Z

Nemaline myopathy 4

  1. Combined MRI and (31)P-MRS Investigations of the ACTA1(H40Y) Mouse Model of Nemaline Myopathy Show Impaired Muscle Function and Altered Energy Metabolism.
  2. Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.
  3. Congenital myopathies - Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
  4. A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: Expanding the spectrum of dominant ACTA1 mutations.
  5. Maximizing functional independence in sporadic late onset nemaline myopathy.
  6. Nemaline myopathy and pregnancy: A challenge indeed.
  7. Neonatal nemaline myopathy with abundant intranuclear rods.
  8. Skeletal muscle involvement in HIV-infected patients.
  9. Experimental emetine myopathy: enzyme histochemical, electron microscopic, and immunomorphological studies.
  10. [Results of nasal brushing in the study of ciliary conformation and function in chronic bronchopneumopathies in childhood].
  11. Expression of cytoskeleton proteins in central core disease.
  12. Alpha-actinin and myosin light chains in congenital nemaline myopathy.
  13. Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy.
  14. [Changes in the motor apparatus of the bronchial cilia. Comparative study of two types of myopathies: nemaline myopathy and the Werdnig-Hoffmann syndrome].
  15. Unit rod segmental spinal instrumentation in the management of patients with progressive neuromuscular spinal deformity.
  16. Prolonged survival in neonatal nemaline rod myopathy.
  17. MR imaging as a potential diagnostic test for metabolic myopathies: importance of variations in the T2 of muscle with exercise.
  18. [A 22-year-old man with long-standing weakness and atrophy predominantly in the lower extremities].
  19. [An adult case of congenital myopathy--coexistence of nemaline rods and core-like structures].
  20. Siblings with rigid spine syndrome and nemaline rod myopathy, a unique association.