Cargando…

It’s time to measure disability in spinal muscular atrophy

Detalles Bibliográficos
Autores principales:	Trabacca, Antonio, Ferrante, Camilla, De Rinaldis, Marta
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Pacini Editore Srl 2022
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9237752/ https://www.ncbi.nlm.nih.gov/pubmed/35832503 http://dx.doi.org/10.36185/2532-1900-070

Ejemplares similares

Peripheral circulation disturbances in two consecutive children with spinal muscular atrophy and literature review
por: Cristofano, Gloria, et al.
Publicado: (2022)

Early Infantile Onset Non-5q Spinal Muscular Atrophies: A Diagnostic Odyssey
por: Suthar, Renu, et al.
Publicado: (2021)

Neuromuscular disorders and transition from pediatric to adult care in a multidisciplinary perspective: a narrative review of the scientific evidence and current debate
por: Accogli, Giuseppe, et al.
Publicado: (2022)

SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe
por: Kayadjanian, Nathalie, et al.
Publicado: (2013)

Do we always need to treat patients with spinal muscular atrophy? A personal view and experience
por: Agosto, Caterina, et al.
Publicado: (2021)

Anaesthetic management of severe scoliosis correction in spinal muscular atrophy, severe restrictive lung disease and difficult airway
por: Babu, Tency, et al.
Publicado: (2022)

Germline BRCA2 mutation in a case of aggressive prostate cancer accompanied by spinal bulbar muscular atrophy
por: Hongo, Hiroshi, et al.
Publicado: (2021)

Spinal muscular atrophy
por: D'Amico, Adele, et al.
Publicado: (2011)

The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy
por: Bansagi, Boglarka, et al.
Publicado: (2015)

A Spinal Muscular Atrophy Family with Intrafamilial Phenotype Differences Despite the Same Copy-Number Variation in SMN2
por: Park, Jin-Mo, et al.
Publicado: (2019)

Comment on: “Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy” by Zhou et al.
por: Chen, Tai‐Heng
Publicado: (2020)

A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland
por: Gillingwater, Thomas H., et al.
Publicado: (2022)

The need for evidence‐based treatment decisions in spinal muscular atrophy type 0
por: Erbas, Yasemin, et al.
Publicado: (2021)

Risdiplam for spinal muscular atrophy
Publicado: (2022)

Nusinersen for spinal muscular atrophy
por: Wurster, Claudia D., et al.
Publicado: (2018)

Spinal Muscular Atrophy and Ependymoma
por: Albakr, Aishah, et al.
Publicado: (2017)

How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?
por: Uher, David, et al.
Publicado: (2023)

Objective measurement of oral function in adults with spinal muscular atrophy
por: Kruse, T., et al.
Publicado: (2023)

Reply to: The need for evidence‐based treatment decisions in spinal muscular atrophy type 0
por: Mercuri, Eugenio, et al.
Publicado: (2021)

Onasemnogene abeparvovec for spinal muscular atrophy
Publicado: (2022)

Mitochondrial Dysfunction in Spinal Muscular Atrophy
por: Zilio, Eleonora, et al.
Publicado: (2022)

Modeling Spinal Muscular Atrophy in Drosophila
por: Chang, Howard Chia-Hao, et al.
Publicado: (2008)

Carrier screening for spinal muscular atrophy
por: Prior, Thomas W.
Publicado: (2008)

Androgens in spinal and bulbar muscular atrophy
Publicado: (2012)

Spinal Muscular Atrophy: The Treatment Approved
por: Tabet, Rabih, et al.
Publicado: (2017)

Advances in spinal muscular atrophy therapeutics
por: Parente, Valeria, et al.
Publicado: (2018)

Euglycemic Ketoacidosis in Spinal Muscular Atrophy
por: Stoimenis, Dimitrios, et al.
Publicado: (2019)

Metabolic Dysfunction in Spinal Muscular Atrophy
por: Deguise, Marc-Olivier, et al.
Publicado: (2021)

Update on Biomarkers in Spinal Muscular Atrophy
por: Pino, Megan G, et al.
Publicado: (2021)

Editorial: Advances in spinal muscular atrophy
por: Sun, Jianli
Publicado: (2023)

Factors associated with pharmacological treatment in children with attention-deficit/hyperactivity disorders: a retrospective study of a series of 77 cases in a single third-level reference Centre in Apulia region
por: Amendola, Simone, et al.
Publicado: (2023)

Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities
por: Rodriguez-Torres, Rafael S., et al.
Publicado: (2023)

The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al.
por: Zhou, Haiyan, et al.
Publicado: (2020)

Cardiac involvement in patients with Spinal Muscular Atrophies
por: Palladino, Alberto, et al.
Publicado: (2011)

Gene therapy for spinal muscular atrophy: Solomon's consensus in Covid times
por: Zafeiriou, Dimitrios
Publicado: (2020)

Growth patterns in children with spinal muscular atrophy
por: De Amicis, Ramona, et al.
Publicado: (2021)

Nusinersen Treatment in Adults With Spinal Muscular Atrophy
por: Duong, Tina, et al.
Publicado: (2021)

Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy
por: Lusakowska, Anna, et al.
Publicado: (2021)

Identifying Biomarkers of Spinal Muscular Atrophy for Further Development
por: Glascock, Jacqueline, et al.
Publicado: (2023)

Advances and limitations for the treatment of spinal muscular atrophy
por: Day, John W., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_7atcrjc2jeatmfc2ppgq36d0um