Search

Your search keyword '"J. Vajsar"' showing total 90 results

Search Constraints

Start Over You searched for: Author "J. Vajsar" Remove constraint Author: "J. Vajsar"
90 results on '"J. Vajsar"'

Search Results

1. SMA – OUTCOME MEASURES AND REGISTRIES

2. SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES

3. SMA - CLINICAL

5. Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain

7. Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive

8. Myopathy with Allgrove syndrome

9. Spontaneous Non-Traumatic Anterior Compartment Syndrome with Peroneal Neuropathy and Favorable Outcome

10. IGIV in neurology--evidence and recommendations

11. Amplitudes of sural and radial sensory nerve action potentials in orthodromic and antidromic studies in children

12. Intravenous immunoglobulin treatment in children with Guillain-Barré syndrome

13. Fetal nerve healing: an experimental study

14. Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments

15. Letters

21.  Pediatric Chronic Inflammatory Demyelinating Polyneuropathy: Challenges in Diagnosis and Therapeutic Strategies.

22. Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year.

23. Clinical profile and multidisciplinary needs of patients with neuromuscular disorders transitioning from paediatric to adult care.

24. Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.

25. Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study.

26. A National Spinal Muscular Atrophy Registry for Real-World Evidence.

27. Respiratory Dysfunction and Sleep-Disordered Breathing in Children With Myasthenia Gravis.

28. Signs and Symptoms in Congenital Myopathies.

30. Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.

31. Longitudinal Outcomes in the 2014 Acute Flaccid Paralysis Cluster in Canada.

32. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study.

33. Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

35. Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update.

36. Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.

37. Clinical characteristics of pediatric myasthenia: a surveillance study.

38. Efficacy and safety of thoracoscopic thymectomy in the treatment of juvenile myasthenia gravis.

39. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

40. Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.

41. Consensus statement on standard of care for congenital muscular dystrophies.

42. Nocturnal hypoventilation: predictors and outcomes in childhood progressive neuromuscular disease.

43. Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.

45. Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.

46. Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques.

47. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

48. Enterostomy tube placement in children with spinal muscular atrophy type 1.

49. Walker-Warburg syndrome.

50. A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.

Catalog

Books, media, physical & digital resources