247 results on '"Menezes, Manoj P"'
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2. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
3. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
4. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
5. CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation
6. A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre
7. Replicating and redesigning ankle-foot orthoses with 3D printing for children with Charcot-Marie-Tooth disease
8. Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature
9. Development of a functional outcome measure for riboflavin transporter deficiency
10. Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophy
11. Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency
12. Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease
13. 2646 Neurofibromatosis model of care project – development of a state-wide integrated value-based model of care for the neurofibromatoses
14. C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement
15. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
16. C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement
17. Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy
18. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
19. Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy
20. Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders
21. Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter
22. Feasibility of designing, manufacturing and delivering 3D printed ankle-foot orthoses: a systematic review
23. CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection‐triggered encephalopathy syndromes.
24. Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect
25. Natural history of Charcot‐Marie‐Tooth disease during childhood
26. Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids
27. Steroid‐responsive aseptic meningitis with raised intracranial pressure syndrome associated with myelin oligodendrocyte glycoprotein autoantibodies
28. Established and novel measures of upper limb impairment in children with Charcot‐Marie‐tooth disease type 1A and riboflavin transporter deficiency type 2
29. Advances in the management of Charcot–Marie–Tooth disease in childhood
30. Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease
31. Reliability and sensitivity of radiographic measures of hip dysplasia in childhood Charcot-Marie-Tooth disease.
32. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
33. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
34. Eye movement disorders are an early manifestation of CACNA1A mutations in children
35. Systematic review of exercise for Charcot-Marie-Tooth disease
36. Reply: The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy
37. Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease
38. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
39. Reliability and sensitivity of radiographic measures of hip dysplasia in childhood Charcot-Marie-Tooth disease
40. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
41. Paediatric neurocysticercosis in high income countries.
42. Clinical, Genetic, and Disability Profile of Pediatric Distal Hereditary Motor Neuropathy
43. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
44. Inherited neuromuscular disorders: Pathway to diagnosis
45. Peripheral neuropathy associated with mitochondrial disease in children
46. Psychiatric comorbidity is common in dystonia and other movement disorders
47. Surgical outcomes of cavovarus foot deformity in children with Charcot-Marie-Tooth disease
48. Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale
49. Development and validation of the Charcot-Marie-Tooth Disease Infant Scale
50. Psychiatric comorbidity is common in dystonia and other movement disorders.
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