Cargando…

Identifying Biomarkers of Spinal Muscular Atrophy for Further Development

BACKGROUND: Spinal muscular atrophy (SMA) is caused by bi-allelic, recessive mutations of the survival motor neuron 1 (SMN1) gene and reduced expression levels of the survival motor neuron (SMN) protein. Degeneration of alpha motor neurons in the spinal cord causes progressive skeletal muscle weakne...

Descripción completa

Detalles Bibliográficos
Autores principales:	Glascock, Jacqueline, Darras, Basil T., Crawford, Thomas O., Sumner, Charlotte J., Kolb, Stephen J., DiDonato, Christine, Elsheikh, Bakri, Howell, Kelly, Farwell, Wildon, Valente, Marta, Petrillo, Marco, Tingey, Jessica, Jarecki, Jill
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	IOS Press 2023
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578234/ https://www.ncbi.nlm.nih.gov/pubmed/37458045 http://dx.doi.org/10.3233/JND-230054

Ejemplares similares

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening
por: Glascock, Jacqueline, et al.
Publicado: (2018)

Neurofilament as a potential biomarker for spinal muscular atrophy
por: Darras, Basil T., et al.
Publicado: (2019)

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

Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2
por: Glascock, Jacqueline, et al.
Publicado: (2020)

Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future
por: McGrattan, Katlyn Elizabeth, et al.
Publicado: (2021)

An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials
por: Darras, Basil T., et al.
Publicado: (2019)

Nusinersen improves walking distance and reduces fatigue in later‐onset spinal muscular atrophy
por: Montes, Jacqueline, et al.
Publicado: (2019)

Increased systemic HSP70B levels in spinal muscular atrophy infants
por: Eichelberger, Eric J., et al.
Publicado: (2021)

Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study
por: Acsadi, Gyula, et al.
Publicado: (2021)

Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies
por: Darras, Basil T., et al.
Publicado: (2019)

Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States
por: Lally, Cathy, et al.
Publicado: (2017)

Yeo and Darras: Extraneuronal Phenotypes of Spinal Muscular Atrophy
por: Yeo, Crystal Jing Jing, et al.
Publicado: (2020)

Evaluating Perceived Fatigue within an Adult Spinal Muscular Atrophy Population
por: Belter, Lisa, et al.
Publicado: (2023)

Implications of circulating neurofilaments for spinal muscular atrophy treatment early in life: A case series
por: Alves, Christiano R.R., et al.
Publicado: (2021)

Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy
por: Belter, Lisa, et al.
Publicado: (2022)

Economic burden of spinal muscular atrophy: an analysis of claims data
por: Belter, Lisa, et al.
Publicado: (2020)

A Short Antisense Oligonucleotide Ameliorates Symptoms of Severe Mouse Models of Spinal Muscular Atrophy
por: Keil, Jeffrey M, et al.
Publicado: (2014)

Ethical Perspectives on Treatment Options with Spinal Muscular Atrophy Patients
por: Yeo, Crystal J. J., et al.
Publicado: (2022)

A qualitative study of perceptions of meaningful change in spinal muscular atrophy
por: McGraw, Sarah, et al.
Publicado: (2017)

In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy
por: Ojala, Kristine S., et al.
Publicado: (2021)

Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients
por: Lochmüller, Hanns, et al.
Publicado: (2018)

Longitudinal natural history of type I spinal muscular atrophy: a critical review
por: Mercuri, Eugenio, et al.
Publicado: (2020)

Spinal muscular atrophy, pediatric virology and gene therapy: A challenge of modern weakness and hope
por: Darras, Basil T., et al.
Publicado: (2018)

Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey
por: Belter, Lisa, et al.
Publicado: (2020)

Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls
por: Viscidi, Emma, et al.
Publicado: (2021)

Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study
por: Qian, Ying, et al.
Publicado: (2015)

Safety, Tolerability, and Effect of Nusinersen in Non-ambulatory Adults With Spinal Muscular Atrophy
por: Elsheikh, Bakri, et al.
Publicado: (2021)

Correction to: Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls
por: Viscidi, Emma, et al.
Publicado: (2022)

Developmental milestones in type I spinal muscular atrophy
por: De Sanctis, Roberto, et al.
Publicado: (2016)

Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen
por: Arnold, W David, et al.
Publicado: (2021)

Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA)
por: Curry, Mary, et al.
Publicado: (2021)

Systemic nature of spinal muscular atrophy revealed by studying insurance claims
por: Lipnick, Scott L., et al.
Publicado: (2019)

Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA
por: Mouchet, Julie, et al.
Publicado: (2023)

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

Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy
por: Chiriboga, Claudia A., et al.
Publicado: (2016)

Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy
por: Swoboda, Kathryn J., et al.
Publicado: (2009)

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

Comparisons Between Separately Conducted Clinical Trials: Letter to the Editor Regarding Dabbous O, Maru B, Jansen JP, Lorenzi M, Cloutier M, Guérin A, et al. Adv Ther (2019) 36(5):1164–76. doi:10.1007/s12325-019-00923-8
por: Sandrock, Alfred W., et al.
Publicado: (2019)

Spinal Muscular Atrophy Therapeutics: Where do we Stand?
por: d’Ydewalle, Constantin, et al.
Publicado: (2015)

Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy
por: Hale, Jaime E., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_4hohit31il325hc88lti7soi5e