Patents
Patent Title: Patient Information Forms for FSHD (Facioscapulohumeral Muscular Dystrophy), DM (Myotonic Dystrophy), and Unaffected Blood Relatives of Individuals with FSH
Patent #: TXu 1-790-681
Issue Date: Nov 16, 2011
Country: United States
Invented By:
Michael McDermott, Richard T Moxley, III, Al-Rabi N Tawil, Charles A Thornton
Patent Title: Methods for Alleviating Facioscapulohumeral Dystrophy (FSHD) by an SiRNA Molecule Inhibiting the Expression of
Patent #: 10,865,445
Issue Date: Dec 15, 2020
Country: United States
Invented By:
Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel
Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: 3192880
Issue Date: Oct 09, 2019
Country: Europe
Invented By:
Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel
Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: FR3192880
Issue Date: Oct 09, 2019
Country: France
Invented By:
Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel
Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: 602011062701.5
Issue Date: Oct 09, 2019
Country: Germany
Invented By:
Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel
Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: GB3192880
Issue Date: Oct 09, 2019
Country: United Kingdom
Invented By:
Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel
Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: 2606152
Issue Date: Oct 05, 2016
Country: Europe
Invented By:
Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel
Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: FR2606152
Issue Date: Oct 05, 2016
Country: France
Invented By:
Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel
Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: 60 2011 031 061.5
Issue Date: Oct 05, 2016
Country: Germany
Invented By:
Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel
Patent Title: Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
Patent #: GB2606152
Issue Date: Oct 05, 2016
Country: United Kingdom
Invented By:
Linda Geng, Stephen Tapscott, Al-Rabi N Tawil, Silvere van der Maarel
Patent Title: Facioscapulohumeral Dystrophy Composite Outcome Measure (FSHD-COM)
Patent #: TXu 2-056-221
Issue Date: Aug 17, 2017
Country: United States
Invented By:
Katy J Eichinger, Chad R Heatwole, Jeffery Statland, Al-Rabi N Tawil
Patent Title: Data Forms for: Cellular and Molecular Pathophysiology (CAMP) of Facioscapulohumeral Muscular Dystrophy (FSHD) Study
Patent #: TXu 1-666-178
Issue Date: Dec 18, 2009
Country: United States
Invented By:
Al-Rabi N Tawil
Patent Title: DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)
Patent #: 3119909
Issue Date: Nov 13, 2019
Country: Europe
Invented By:
Stephen Tapscott, Al-Rabi N Tawil, Zizhen Yao, Silvere van der Maarel
Patent Title: DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)
Patent #: FR319909
Issue Date: Nov 13, 2019
Country: France
Invented By:
Stephen Tapscott, Al-Rabi N Tawil, Zizhen Yao, Silvere van der Maarel
Patent Title: DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)
Patent #: 602015041689.9
Issue Date: Nov 13, 2019
Country: Germany
Invented By:
Stephen Tapscott, Al-Rabi N Tawil, Zizhen Yao, Silvere van der Maarel
Patent Title: DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)
Patent #: GB319909
Issue Date: Nov 13, 2019
Country: United Kingdom
Invented By:
Stephen Tapscott, Al-Rabi N Tawil, Zizhen Yao, Silvere van der Maarel
Patent Title: DUX4-induced gene expression in Facioscapulohumeral Muscular Dystrophy (FSHD)
Patent #: NL3119909
Issue Date: Nov 13, 2019
Country: Netherlands
Invented By:
Stephen Tapscott, Al-Rabi N Tawil, Zizhen Yao, Silvere van der Maarel
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Publications
Journal Articles
9/13/2023
Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM. "Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy." Brain : a journal of neurology.. 2023 Sep 13; Epub 2023 Sep 13.
6/21/2023
Wang LH, Leung DG, Wagner KR, Lowry SJ, McDermott MP, Eichinger K, Higgs K, Walker M, Lewis L, Martens WB, Mul K, Sansone VA, Shieh P, Elsheikh B, LoRusso S, Butterfield RJ, Johnson N, Preston MR, Messina C, Carraro E, Tawil R, Statland J, . "Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy." Neuromuscular disorders : NMD.. 2023 Jun 21; Epub 2023 Jun 21.
6/5/2023
Tawil R. "Finding the Determinants of Disease Severity in FSHD." Neurology.. 2023 Jun 5; Epub 2023 Jun 05.
Books & Chapters
2008
Chapter Title: Facioscapulohumeral Dystrophy
Book Title: The Molecular and Genetic Basis of Neurologic and Psychiatric Disease
Author List: Tawil, Rabi
Edited By: Rosenburg RN, DiMauro S, Paulson HL, Ptacek L, Nestler EJ
Published By: Wolters Kluwer/Lippincott Williams & Wilkins 2008 in Philadelphia, PA
2006
Chapter Title: Channelopathies: myotonic disorders and periodic paralysis
Book Title: Pediatric Neurology
Author List: Moxley III RT, Tawil R
Edited By: Swaiman KF, Ashwal S and Ferriero DM
Published By: Mosby 2006 in St. Louis
2005
Chapter Title: Periodic paralyses and associated disorders
Book Title: Neurobase - in Medlink CD ROM (updated yearly)
Author List: Tawil R, Cleland J
Edited By: Gilman S, Goldstein GW, Waxman SG
Published By: Arbor Publishing 2005 in San Diego
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