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Rabi Tawil Selected Research

Facioscapulohumeral Muscular Dystrophy

1/2020Case Studies on the Genetic and Clinical Diagnosis of Facioscapulohumeral Muscular Dystrophy.
1/2020Magnetic resonance imaging correlates with electrical impedance myography in facioscapulohumeral muscular dystrophy.
10/2019SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
1/2019Clinically Advanced p38 Inhibitors Suppress DUX4 Expression in Cellular and Animal Models of Facioscapulohumeral Muscular Dystrophy.
1/2019Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development.
10/2018Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
10/2018Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments.
8/2018Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study.
1/2018Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.
1/2018Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.
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Rabi Tawil Research Topics

Disease

21Facioscapulohumeral Muscular Dystrophy
01/2020 - 05/2003
6Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
01/2022 - 05/2008
4Muscular Dystrophies (Muscular Dystrophy)
01/2020 - 05/2008
3Neoplasms (Cancer)
10/2022 - 04/2008
2Myotonic Dystrophy (Dystrophia Myotonica)
12/2021 - 12/2013
2Myasthenia Gravis
04/2021 - 03/2016
2Hypersensitivity (Allergy)
01/2017 - 05/2008
2Paralysis (Palsy)
01/2017 - 04/2016
2Disease Progression
01/2016 - 04/2013
2Muscular Diseases (Myopathy)
12/2013 - 01/2012
2Hypertrophy
09/2010 - 10/2009
2Muscular Atrophy (Muscle Atrophy)
10/2009 - 08/2009
1Respiratory Tract Infections (Respiratory Tract Infection)
01/2022
1Vomiting
01/2022
1Myotonia
12/2021
1Inflammatory Bowel Diseases (Inflammatory Bowel Disease)
04/2021
1Thymoma (Thymic Carcinoma)
04/2021
1Neuromuscular Diseases (Neuromuscular Disease)
01/2021
1Arhinia, choanal atresia, and microphthalmia
10/2019
1Vascular Diseases (Vascular Disease)
07/2015
1Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease)
10/2012
1Rare Diseases (Rare Disease)
03/2012
1Virus Diseases (Viral Diseases)
01/2012
1Spinal Muscular Atrophy (Progressive Muscular Atrophy)
10/2010
1Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
05/2008
1Telangiectasis (Telangiectasia)
07/2006
1High-Frequency Hearing Loss
07/2006
1Autoimmune Diseases (Autoimmune Disease)
05/2005
1Systemic Lupus Erythematosus (Libman-Sacks Disease)
05/2005
1Ischemia
05/2005
1Dermatomyositis (Dermatopolymyositis)
05/2005
1Atrophy
05/2005
1Neuroferritinopathy
04/2005

Drug/Important Bio-Agent (IBA)

8Transcription Factors (Transcription Factor)IBA
01/2019 - 01/2012
8ChromatinIBA
10/2018 - 04/2008
5Proteins (Proteins, Gene)FDA Link
01/2020 - 04/2005
5Biomarkers (Surrogate Marker)IBA
01/2020 - 12/2013
4Adrenal Cortex Hormones (Corticosteroids)IBA
01/2022 - 07/2013
4MyostatinIBA
09/2010 - 05/2008
3Prednisone (Sone)FDA LinkGeneric
01/2022 - 07/2013
2Retinaldehyde (Retinal)IBA
07/2015 - 07/2006
1deflazacortIBA
01/2022
1GlucocorticoidsIBA
12/2021
1DystrophinIBA
12/2021
1Mexiletine (Mexitil)FDA LinkGeneric
12/2021
1Rituximab (Mabthera)FDA Link
04/2021
1Pharmaceutical PreparationsIBA
01/2021
1Adenosine Triphosphatases (ATPase)IBA
10/2019
1RNA (Ribonucleic Acid)IBA
01/2019
1SteroidsIBA
05/2018
1Transfer RNA (tRNA)IBA
01/2017
1Acetazolamide (Diamox)FDA LinkGeneric
01/2017
1Dichlorphenamide (Daranide)FDA Link
04/2016
1Pyridostigmine Bromide (Pyridostigmine)FDA LinkGeneric
03/2016
1HeterochromatinIBA
12/2013
1Indicators and Reagents (Reagents)IBA
04/2013
1Biological ProductsIBA
10/2012
1Retroelements (Retrotransposon)IBA
01/2012
1DefensinsIBA
01/2012
1Homeodomain Proteins (Proteins, Homeobox)IBA
01/2012
1plastinIBA
10/2010
1p38 Mitogen-Activated Protein KinasesIBA
10/2009
1StamulumabIBA
05/2008
1Neutralizing AntibodiesIBA
05/2008
1DNA (Deoxyribonucleic Acid)IBA
04/2008
1Complement System Proteins (Complement)IBA
05/2005
1Interferon-alpha (Interferon Alfa)IBA
05/2005
1ApoferritinsIBA
04/2005
1ElastinIBA
05/2003
1ParaquatIBA
05/2003
1DecorinIBA
05/2003
1Cyclin-Dependent Kinase Inhibitor p21IBA
05/2003
1LumicanIBA
05/2003

Therapy/Procedure

2Therapeutics
10/2018 - 01/2017
1Braces
10/2022
1Canes (Cane)
10/2022
1Walkers
10/2022
1Investigational Therapies (Experimental Therapy)
03/2012