Results 131 to 140 of about 2,169 (197)

Clinical Experience of Timing Treatment in Newborns with Spinal Muscular Atrophy: A Call for Standardized Screening Practices in Italy. [PDF]

Int J Neonatal Screen
Bitetti I, Iannaccone R, Margiotta G, Varone A.   +3 more
europepmc   +1 more source

Pharmacokinetics of therapies approved for spinal muscular atrophy: A narrative review of current evidence. [PDF]

J Int Med Res
Sel EK, Gkrinia EMM, Roncato R, Vitezić D, Janković S, Belančić A, EACPT Early Career Clinical Pharmacologists Working Group.   +6 more
europepmc   +1 more source

Analyse der gesundheitsbezogenen Lebensqualität von Patienten mit spinaler Muskelatrophie (SMA) unter der Therapie mit Nusinersen und Ermittlung der Belastung ihrer pflegenden Angehörigen [PDF]

Velling, Ann-Kathrin
core   +1 more source

A Chemically Induced CRISPR/dCas13^FCPF Platform for Precise and Programmable RNA Regulation. [PDF]

J Med Chem
Hasselbeck S, Wang J, Bai Z, Hüfner T, Hummer G, Grote P, Cheng X.   +6 more
europepmc   +1 more source

Efficacy and safety of risdiplam in adults with 5q-associated spinal muscular atrophy: a nationwide observational cohort study in Austria. [PDF]

EClinicalMedicine
Keritam O, Erdler M, Fasching B, Zulehner G, Rath J, Krenn M, Waldhör T, Gruber VA, Langweil N, Kiss C, Griedl TA, Gold V, Wanschitz J, Hotter A, Kleinveld VEA, Horlings CGC, Erber A, Schernhammer E, Troger J, Grinzinger S, Müller P, Langenscheidt D, Rappold M, Wiesenhofer A, Gosk-Tomek M, Knipp F, Mahal S, Bernert G, Baumann M, Zimprich F, Topakian R, Eggers C, Quasthoff S, Löscher W, Cetin H.   +34 more
europepmc   +1 more source

Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial. [PDF]

Nat Med
Kwon JM, Munell F, Le Goff L, Yuge K, Kato T, Cances C, De Waele L, Woodcock IR, Mercuri EM, Proud CM, Darras BT, Hayes LH, Oskoui M, Visootsak J, Williams G, Ilić A, Yang L, van der Pol WL.   +17 more
europepmc   +1 more source

Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program. [PDF]

Int J Neonatal Screen
Leanca MC, Onose G, Nicolae G, Neagu E, Vasile D, Bercu E, Balanescu OM, Capitanescu A, Munteanu C, Popescu C, Mirea A.   +10 more
europepmc   +1 more source

Presymptomatic Treatment of a Genetic Disease with a Small-Molecule Drug. [PDF]

N Engl J Med
Sumner CJ.
europepmc   +1 more source

Swallowing and feeding after disease-modifying treatment for spinal muscular atrophy: a systematic review of assessment modalities and outcomes. [PDF]

Orphanet J Rare Dis
Martí Y, Gorni K, Kumari S, Mahajan A, Baranello G, Waele L, McGrattan KE.   +6 more
europepmc   +1 more source

Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016 [PDF]

Cavallina, Ilaria, Leone, Daniela, Mastella, Chiara, Ricci, Federica   +3 more
core   +1 more source