24 results on '"Sowden, Janet E."'
Search Results
2. Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A
3. Reply: The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy
4. Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease
5. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
6. Patient Identification of the Symptomatic Impact of Charcot–Marie–Tooth Disease Type 1A
7. Reliability of the Charcot‐Marie‐Tooth functional outcome measure
8. Measuring peripheral nerve involvement in Friedreich’s ataxia
9. Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome
10. Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID‐19 pandemic: Challenges and solutions.
11. Biallelic mutations in SORDcause a common and potentially treatable hereditary neuropathy with implications for diabetes
12. Electrophysiological features of SYT2 mutations; a novel and treatable neuromuscular syndrome
13. Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy
14. Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy
15. Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
16. Electrophysiologic features ofSYT2mutations causing a treatable neuromuscular syndrome
17. Reply: The p.Ser107Leu inBICD2is a mutation ‘hot spot’ causing distal spinal muscular atrophy
18. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
19. Electrophysiologic features of SYT2mutations causing a treatable neuromuscular syndrome
20. Author Correction: Biallelic mutations in SORDcause a common and potentially treatable hereditary neuropathy with implications for diabetes
21. Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
22. Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
23. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
24. Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.