Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.

Autor: Thornton CA; Neurology, University of Rochester, Rochester, NY, USA., Moxley RT 3rd; Neurology, University of Rochester, Rochester, NY, USA., Eichinger K; Neurology, University of Rochester, Rochester, NY, USA., Heatwole C; Center for Health and Technology, University of Rochester, Rochester, NY, USA., Mignon L; Translational Medicine, Ionis Pharmaceuticals, Carlsbad, CA, USA., Arnold WD; Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA., Ashizawa T; Neuroscience Research Program, Houston Methodist Research Institute, Houston, TX, USA., Day JW; Neuromuscular Medicine, Stanford University, Palo Alto, CA, USA., Dent G; Neurodegeneration Development Unit, Biogen, Cambridge, MA, USA., Tanner MK; Neurology, University of Rochester, Rochester, NY, USA., Duong T; Neuromuscular Medicine, Stanford University, Palo Alto, CA, USA., Greene EP; Neuromuscular Clinic, Houston Methodist Research Institute, Houston, TX, USA., Herbelin L; Neurology, University of Kansas Medical Center, Kansas City, KS, USA., Johnson NE; Neurology, University of Utah, Salt Lake City, UT, USA., King W; Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA., Kissel JT; Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA., Leung DG; Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, MD, USA., Lott DJ; Physical Therapy, University of Florida, Gainesville, FL, USA., Norris DA; Pharmacokinetics and Clinical Pharmacology, Ionis Pharmaceuticals, Carlsbad, CA, USA., Pucillo EM; Neurology, University of Utah, Salt Lake City, UT, USA., Schell W; Neuromuscular Clinic, Houston Methodist Research Institute, Houston, TX, USA., Statland JM; Neurology, University of Kansas Medical Center, Kansas City, KS, USA., Stinson N; Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, MD, USA., Subramony SH; Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, USA., Xia S; Biometrics, Ionis Pharmaceuticals, Carlsbad, CA, USA., Bishop KM; Clinical Development, Ionis Pharmaceuticals, Carlsbad, CA, USA., Bennett CF; Ionis Pharmaceuticals, Carlsbad, CA, USA. Electronic address: fbennett@ionisph.com.

Publikováno v: The Lancet. Neurology [Lancet Neurol] 2023 Mar; Vol. 22 (3), pp. 218-228.

Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation.

Autor: Deutsch GK; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA., Hagerman KA; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA., Sampson J; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA., Dent G; Biogen, Cambridge, MA., Dekdebrun J; Department of Neurology, The University of Rochester Medical Center, Rochester, NY., Parker DM; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA., Thornton CA; Department of Neurology, The University of Rochester Medical Center, Rochester, NY., Heatwole CR; Department of Neurology, The University of Rochester Medical Center, Rochester, NY., Subramony SH; Department of Neurology, Norman Fixel Center for Neurological Disorders, University of Florida College of Medicine, Gainesville, FL., Mankodi AK; National Institute of Neurological Disorders and Stroke, Rockville, MD., Ashizawa T; Department of Neurology, Weill Cornell Medicine at Houston Methodist Hospital, Houston, TX., Statland JM; Department of Neurology, University of Kansas Medical Center, Kansas City, KS., Arnold WD; Departments of Neurology, PM&R, Neuroscience and Physiology and Cell Biology, The Ohio State University, Columbus, OH., Moxley RT 3rd; Department of Neurology, The University of Rochester Medical Center, Rochester, NY., Day JW; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.

Publikováno v: Muscle & nerve [Muscle Nerve] 2022 May; Vol. 65 (5), pp. 560-567. Date of Electronic Publication: 2022 Feb 28.

An algorithm for discontinuing mechanical ventilation in boys with x-linked myotubular myopathy after positive response to gene therapy: the ASPIRO experience.

Autor: Graham, Robert J.¹ (AUTHOR), Amin, Reshma² (AUTHOR), Demirel, Nadir³ (AUTHOR), Edel, Lisa⁴ (AUTHOR), Lilien, Charlotte^5,6 (AUTHOR), MacBean, Victoria⁷ (AUTHOR), Rafferty, Gerrard F.⁸ (AUTHOR), Sawnani, Hemant^9,10 (AUTHOR), Schön, Carola¹¹ (AUTHOR), Smith, Barbara K.¹² (AUTHOR), Syed, Faiza² (AUTHOR), Sarazen, Micaela¹³ (AUTHOR), Prasad, Suyash¹³ (AUTHOR), Rico, Salvador¹³ (AUTHOR), Perez, Geovanny F.¹⁴ (AUTHOR) gperez@upa.chob.edu

Publikováno v: Respiratory Research. 9/16/2024, Vol. 25 Issue 1, p1-10. 10p.

Ameliorated cellular hallmarks of myotonic dystrophy in hybrid myotubes from patient and unaffected donor cells.

Autor: Raaijmakers, Renée H.L.^1,2,3 (AUTHOR), Ausems, C. Rosanne M.^1,2,3 (AUTHOR), Willemse, Marieke³ (AUTHOR), Cumming, Sarah A.⁴ (AUTHOR), van Engelen, Baziel G.M.² (AUTHOR), Monckton, Darren G.⁴ (AUTHOR), van Bokhoven, Hans¹ (AUTHOR) hans.vanbokhoven@radboudumc.nl, Wansink, Derick G.³ (AUTHOR) rick.wansink@radboudumc.nl

Publikováno v: Stem Cell Research & Therapy. 9/15/2024, Vol. 15 Issue 1, p1-15. 15p.

Pilot investigations into the mechanistic basis for adverse effects of glucocorticoids in dysferlinopathy.

Autor: Lloyd, Erin M.^1,2 (AUTHOR), Crew, Rachael C.^1,3 (AUTHOR), Haynes, Vanessa R.⁴ (AUTHOR), White, Robert B.⁵ (AUTHOR), Mark, Peter J.¹ (AUTHOR), Jackaman, Connie² (AUTHOR), Papadimitriou, John M.⁶ (AUTHOR), Pinniger, Gavin J.¹ (AUTHOR), Murphy, Robyn M.⁷ (AUTHOR), Watt, Matthew J.⁴ (AUTHOR), Grounds, Miranda D.¹ (AUTHOR) miranda.grounds@emeriti.uwa.edu.au

Publikováno v: Skeletal Muscle. 8/9/2024, Vol. 14 Issue 1, p1-20. 20p.