Cargando…

Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies

Spinal muscular atrophy (SMA) is a genetic neuromuscular disease resulting in global muscular weakness and, frequently, in respiratory failure and premature death. Gene-based therapies like Nusinersen are now available for patients with SMA. The aim of this review was to assess in “real world” studi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Panagiotou, Panagiota, Kanaka-Gantenbein, Christina, Kaditis, Athanasios G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9406975/ https://www.ncbi.nlm.nih.gov/pubmed/36010097 http://dx.doi.org/10.3390/children9081207

Ejemplares similares

Eighteen Years with Spinal Muscular Atrophy (SMA) Type 1
por: Valencia, Borja, et al.
Publicado: (2013)

Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada
por: McMillan, H.J., et al.
Publicado: (2021)

Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort
por: Jones, Cynthia C., et al.
Publicado: (2020)

SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy
por: Kobayashi, Dione T., et al.
Publicado: (2013)

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

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

Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)
por: Paracha, Noman, et al.
Publicado: (2021)

Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA)
por: Zanetta, Chiara, et al.
Publicado: (2014)

Spontaneous Breathing Pattern as Respiratory Functional Outcome in Children with Spinal Muscular Atrophy (SMA)
por: LoMauro, A., et al.
Publicado: (2016)

Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol
por: Saposnik, Gustavo, et al.
Publicado: (2022)

Correction to: Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA)
por: Paracha, Noman, et al.
Publicado: (2022)

Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)
por: Mix, Lucas, et al.
Publicado: (2021)

Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
por: Finkel, Richard S., et al.
Publicado: (2012)

Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse
por: McGovern, Vicki L., et al.
Publicado: (2015)

Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls
por: Czech, Christian, et al.
Publicado: (2015)

The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs
por: Hensel, Niko, et al.
Publicado: (2020)

Routine Cerebrospinal Fluid (CSF) Parameters in Patients With Spinal Muscular Atrophy (SMA) Treated With Nusinersen
por: Wurster, Claudia D., et al.
Publicado: (2019)

Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment
por: Monnette, Alisha, et al.
Publicado: (2021)

Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review
por: Chong, Li Chuin, et al.
Publicado: (2021)

Systematic Literature Review to Identify Utility Values in Patients with Spinal Muscular Atrophy (SMA) and Their Caregivers
por: Sutherland, C. Simone, et al.
Publicado: (2021)

Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1
por: Boursange, Sophie, 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)

Association of type IV spinal muscular atrophy (SMA) with myoclonic epilepsy within a single family
por: Liyanage, Damith S, et al.
Publicado: (2014)

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool
por: Ramsey, Danielle, et al.
Publicado: (2017)

Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain
por: López-Bastida, Julio, et al.
Publicado: (2017)

The Cure SMA Membership Surveys: Highlights of Key Demographic and Clinical Characteristics of Individuals with Spinal Muscular Atrophy
por: Belter, Lisa, et al.
Publicado: (2021)

Low- and High-Attenuation Lung Volume in Quantitative Chest CT in Children without Lung Disease
por: Moutafidis, Dimitrios, et al.
Publicado: (2021)

Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
por: Crawford, Thomas O., et al.
Publicado: (2012)

An Evaluation of a Continuing Education Program for Family Caregivers of Ventilator-Dependent Children with Spinal Muscular Atrophy (SMA)
por: Boroughs, Deborah S.
Publicado: (2017)

Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study
por: Annoussamy, Mélanie, et al.
Publicado: (2020)

Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen
por: Johannsen, Jessika, et al.
Publicado: (2021)

Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study
Publicado: (2021)

Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence
por: Hjartarson, Helgi Thor, et al.
Publicado: (2022)

Therapeutic Decision-Making Under Uncertainty in the Management of Spinal Muscular Atrophy: Results From DECISIONS-SMA Study
por: Saposnik, Gustavo, et al.
Publicado: (2022)

Emerging Gene Therapy Approaches in the Management of Spinal Muscular Atrophy (SMA): An Overview of Clinical Trials and Patent Landscape
por: Ponomarev, Aleksei S., et al.
Publicado: (2023)

Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum
por: Najafi, Ali, et al.
Publicado: (2023)

Longitudinal prospective cohort study to assess peripheral motor function with extensive electrophysiological techniques in patients with Spinal Muscular Atrophy (SMA): the SMA Motor Map protocol
por: Ros, Leandra A. A., et al.
Publicado: (2023)

Alambres musculares (SMA) /
por: Hernández Ramírez, Edgar
Publicado: (2001)

Skeletal Muscle DNA Damage Precedes Spinal Motor Neuron DNA Damage in a Mouse Model of Spinal Muscular Atrophy (SMA)
por: Fayzullina, Saniya, et al.
Publicado: (2014)

Recent Progress in the Identification of the X-Linked Infantile Spinal Muscular Atrophy (Xl-SMA) Gene: Implications for Neuronal Apoptosis
por: Baumbach, L. L., et al.
Publicado: (2001)

Cannot write session to /tmp/vufind_sessions/sess_j7vhu8ia6cmts2bobsibcbri1v