Pages that link to "Q94512101"
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The following pages link to Rabi Tawil (Q94512101):
Displaying 50 items.
- Facioscapulohumeral dystrophy: the path to consensus on pathophysiology (Q21195884) (← links)
- Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD (Q21563357) (← links)
- Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene (Q21563391) (← links)
- Drug treatment for facioscapulohumeral muscular dystrophy (Q24247211) (← links)
- Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) (Q24553132) (← links)
- DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2 (Q24657535) (← links)
- Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation (Q26998289) (← links)
- An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients (Q28238050) (← links)
- Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositis (Q28246912) (← links)
- Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III (Q28248897) (← links)
- A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy (Q28272415) (← links)
- A unifying genetic model for facioscapulohumeral muscular dystrophy (Q28291033) (← links)
- The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 (Q29026180) (← links)
- RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy (Q29036117) (← links)
- Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 (Q29303884) (← links)
- Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York (Q30201978) (← links)
- Facioscapulohumeral Dystrophy (Q30250223) (← links)
- Patient-identified disease burden in facioscapulohumeral muscular dystrophy (Q30583657) (← links)
- Splicing biomarkers of disease severity in myotonic dystrophy (Q33904051) (← links)
- Gene expression during normal and FSHD myogenesis (Q34032716) (← links)
- Restrictive lung involvement in facioscapulohumeral muscular dystrophy (Q34079666) (← links)
- 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). (Q34095613) (← links)
- Grip force, EDL contractile properties, and voluntary wheel running after postdevelopmental myostatin depletion in mice (Q34151237) (← links)
- Diagnostic odyssey of patients with myotonic dystrophy (Q34172180) (← links)
- DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle (Q34211798) (← links)
- DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. (Q34243739) (← links)
- Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production. (Q34247338) (← links)
- Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level (Q34328093) (← links)
- Management and treatment of Andersen-Tawil syndrome (ATS). (Q34613764) (← links)
- Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. (Q34920751) (← links)
- Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence (Q34975617) (← links)
- Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. (Q35001068) (← links)
- DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis (Q35053069) (← links)
- Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy (Q35094699) (← links)
- DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy (Q35190362) (← links)
- A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy (Q35249502) (← links)
- Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome (Q35762888) (← links)
- Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs (Q35811204) (← links)
- Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies (Q35988817) (← links)
- Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies (Q36028441) (← links)
- Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD. (Q36100981) (← links)
- Sex-related differences in gene expression in human skeletal muscle (Q36288095) (← links)
- Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD (Q36295486) (← links)
- Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats (Q36405882) (← links)
- Prospective cohort study of spinal muscular atrophy types 2 and 3. (Q36475291) (← links)
- Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4. (Q36833432) (← links)
- Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. (Q36891155) (← links)
- DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD. (Q38867746) (← links)
- Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells (Q38974056) (← links)
- Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei. (Q39745787) (← links)