Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Jill Jarecki"'
Publikováno v:
Neurology and Therapy, Vol 13, Iss 3, Pp 583-598 (2024)
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Clinical trial data suggest early diagnosis and treatment are critical. The purpose of this st
Externí odkaz:
https://doaj.org/article/e77e62e7f8324a64a293f7d6d9bcb8ef
Publikováno v:
Neurology and Therapy, Vol 12, Iss 6, Pp 2161-2175 (2023)
Abstract Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. While chronic fatigue is a common manifestation of SMA, the field lacks comprehensive data t
Externí odkaz:
https://doaj.org/article/71c0e746b4ee4260839644edd3889166
Autor:
Mary Curry, Ilse Peterson, Lisa Belter, Fatou Sarr, Sarah Whitmire, Mary Schroth, Jill Jarecki
Publikováno v:
Neurology and Therapy, Vol 12, Iss 5, Pp 1631-1647 (2023)
Abstract Objective As part of efforts to reduce diagnostic delays and enhance clinical trials, Cure SMA evaluated the effects of COVID-19 on SMA care and clinical trial conduct. Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neu
Externí odkaz:
https://doaj.org/article/1648f62f8164406c83ecaabe057ea0b5
Autor:
Tina Duong, Jessica Braid, Hannah Staunton, Aurelie Barriere, Fani Petridis, Johannes Reithinger, Rosangel Cruz, Jill Jarecki, Mencia De Lemus, Nicole Gusset, Ria Broekgaarden, Sharan Randhawa, Jessica Flynn, Rob Arbuckle, Sonia Reif, Lida Yang, Angela De Martini, Carole Vuillerot
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-4 (2021)
Externí odkaz:
https://doaj.org/article/3e7969a63e0b479d964476d929ecea58
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-13 (2021)
Abstract Background Spinal Muscular Atrophy (SMA), a leading genetic cause of death in infants, is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. While early diagnosis of SMA is critical to modi
Externí odkaz:
https://doaj.org/article/87175ca803414466b5b6009aeaa50108
Autor:
Tina Duong, Jessica Braid, Hannah Staunton, Aurelie Barriere, Fani Petridis, Johannes Reithinger, Rosangel Cruz, Jill Jarecki, Mencia De Lemus, Nicole Gusset, Ria Broekgaarden, Sharan Randhawa, Jessica Flynn, Rob Arbuckle, Sonia Reif, Lida Yang, Angela De Martini, Carole Vuillerot
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-14 (2021)
Abstract Background The 32-item Motor Function Measure (MFM32) is a clinician-reported outcome measure used to assess the functional abilities of individuals with neuromuscular diseases, including those with spinal muscular atrophy (SMA). This two-pa
Externí odkaz:
https://doaj.org/article/40a4d4e72db647e4b617a358a6c10774
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background With the approval of three treatments for spinal muscular atrophy (SMA) and several promising therapies on the horizon, the SMA adolescent and young adult populations are expected to evolve in the coming years. It is imperative to
Externí odkaz:
https://doaj.org/article/8e361c2d2c604503b23a7fd26787ce94
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Individuals and/or caregivers of individuals affected by spinal muscular atrophy (SMA) completed the 2019 Cure SMA Community Update Survey, online, assessing health-related quality of life (HRQoL), loss of work productivity, and f
Externí odkaz:
https://doaj.org/article/efbe59ac97fc4c40b84bf75e9011aafb
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Spinal muscular atrophy (SMA) is a rare neuromuscular disease with a rapidly evolving treatment landscape. To better meet the needs of trial sponsors and the patient community in the United States (US) in this evolving context, Cure SMA esta
Externí odkaz:
https://doaj.org/article/f42a0a6a7c904762b96b43092ff2c91a
Publikováno v:
Journal of Market Access & Health Policy, Vol 8, Iss 1 (2020)
Background: Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disease. Objective: Characterize direct costs associated with SMA management. Data source: Truven Health Analytics MarketScan claims data (2012–2016). Patients: Eligible pati
Externí odkaz:
https://doaj.org/article/57e6b65dc4854a7c881414149697dc1e