564 results on '"Swoboda, Kathryn J."'
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2. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
3. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
4. Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis
5. Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophy
6. Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR
7. A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies
8. Exercise training reverses cancer-induced oxidative stress and decrease in muscle COPS2/TRIP15/ALIEN
9. Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development
10. Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment
11. Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
12. Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!
13. Circulating metabolites and physical performance are predictors of overall survival in metastatic lung cancer patients
14. Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy
15. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
16. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
17. Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR
18. Stander Use in Spinal Muscular Atrophy: Results From a Large Natural History Database
19. Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy
20. Impaired kidney structure and function in spinal muscular atrophy
21. Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3
22. Base editing as a genetic treatment for spinal muscular atrophy
23. Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II
24. Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies
25. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
26. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
27. Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study.
28. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
29. Harnessing the power of the patient perspective for rare disease therapeutics
30. De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
31. Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients
32. Clinical trial of L‐Carnitine and valproic acid in spinal muscular atrophy type I
33. Neurotransmitter-Related Disorders
34. Contributors
35. Case 38-2017: A 20-Year-Old Woman with Seizures and Progressive Dystonia
36. Natural history of infantile‐onset spinal muscular atrophy
37. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
38. Emerging therapies and challenges in spinal muscular atrophy
39. Survival of motor neurone protein is required for normal postnatal development of the spleen
40. Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I
41. Disclosure of Genetic Research Results to Members of a Founder Population
42. Implications of circulating neurofilaments for spinal muscular atrophy treatment early in life: A case series
43. SMN-targeted therapeutics for spinal muscular atrophy: are we SMArt enough yet?
44. RESISTANCE STRENGTH TRAINING EXERCISE IN CHILDREN WITH SPINAL MUSCULAR ATROPHY
45. Clinical and genetic characterization of manifesting carriers of DMD mutations
46. Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients
47. Cancer‐induced muscle atrophy is determined by intrinsic muscle oxidative capacity
48. Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec
49. Astrocytes influence the severity of spinal muscular atrophy
50. Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45
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