28 results on '"Tawil, Rabi"'
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2. Engineered FSHD mutations results in D4Z4 heterochromatin disruption and feedforward DUX4 network activation
3. Cytosolic adaptation to mitochondria-induced proteostatic stress causes progressive muscle wasting
4. Developmental exposure to methylmercury and resultant muscle mercury accumulation and adult motor deficits in mice
5. Case Studies on the Genetic and Clinical Diagnosis of Facioscapulohumeral Muscular Dystrophy
6. Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients
7. Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015
8. 225th ENMC international workshop
9. Developing standardized corticosteroid treatment for Duchenne muscular dystrophy
10. A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD)
11. Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
12. Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29–30 May 2015, Rochester, New York
13. Post-exercise increment in compound muscle action potential amplitude in hyperkalemic periodic paralysis
14. Facioscapulohumeral Muscular Dystrophy
15. The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
16. Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy
17. Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient
18. If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)
19. DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy
20. Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence
21. 171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy
22. Resuscitated sudden cardiac death in Andersen-Tawil syndrome
23. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients
24. Neurologic channelopathies: Evolving concepts and therapeutic challenges
25. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress
26. Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome
27. S-6-4 Myotonia and periodic paralysis: implications of molecular defects for treatment
28. Identification of a mutation in the gene causing hyperkalemic periodic paralysis
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