141 results on '"O'Callaghan, Mar"'
Search Results
2. Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy
3. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study
4. Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
5. PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression
6. Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.
7. Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission
8. Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III
9. Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
10. Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience
11. Neuromuscular Manifestations in Mitochondrial Diseases in Children
12. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
13. Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects
14. Leigh syndrome is the main clinical characteristic of PTCD3 deficiency
15. Liver-Directed Adeno-Associated Virus–Mediated Gene Therapy for Mucopolysaccharidosis Type VI
16. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
17. Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
18. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
19. Pediatric Gaucher disease with intermediate type 2–3 phenotype associated with parkinsonian features and levodopa responsiveness
20. Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III
21. Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich’s Ataxia
22. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study
23. Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.
24. Additional file 1 of Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
25. Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus
26. Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy
27. Comment on “A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome”
28. Front Cover
29. Molecular characterization of Spanish patients withMECP2duplication syndrome
30. Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus
31. Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease
32. Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
33. A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy
34. New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
35. Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
36. Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
37. Molecular characterization of Spanish patients with MECP2 duplication syndrome.
38. Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.
39. Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
40. New Ways of Looking at the State Apparatus and the State Archive in Nineteenth-Century Ireland 'Curiosities from That Phonetic Museum': Royal Irish Constabulary Reports and Their Political Uses, 1879-91
41. Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
42. GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction
43. A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
44. Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
45. Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency
46. Vanishing White Matter Disease in a Spanish Population
47. Biochemical parameters to assess choroid plexus dysfunction in Kearns–Sayre syndrome patients
48. Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich’s Ataxia
49. Coenzyme Q10‐responsive ataxia: 2‐year‐treatment follow‐up
50. Axenfeld–Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion
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