Cargando…

Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

BACKGROUND: Spinal Muscular Atrophy (SMA) is a neurodegenerative motor neuron disorder resulting from a homozygous mutation of the survival of motor neuron 1 (SMN1) gene. The gene product, SMN protein, functions in RNA biosynthesis in all tissues. In humans, a nearly identical gene, SMN2, rescues an...

Descripción completa

Detalles Bibliográficos
Autores principales:	Finkel, Richard S., Crawford, Thomas O., Swoboda, Kathryn J., Kaufmann, Petra, Juhasz, Peter, Li, Xiaohong, Guo, Yu, Li, Rebecca H., Trachtenberg, Felicia, Forrest, Suzanne J., Kobayashi, Dione T., Chen, Karen S., Joyce, Cynthia L., Plasterer, Thomas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338723/ https://www.ncbi.nlm.nih.gov/pubmed/22558154 http://dx.doi.org/10.1371/journal.pone.0035462

Ejemplares similares

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)

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

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

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

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)

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

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

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)

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

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

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

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

SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy
por: Swoboda, Kathryn J., et al.
Publicado: (2010)

SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy
por: Kissel, John T., et al.
Publicado: (2011)

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)

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)

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

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

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)

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

Changes in Ventilatory Support Requirements of Spinal Muscular Atrophy (SMA) Patients Post Gene-Based Therapies
por: Panagiotou, Panagiota, et al.
Publicado: (2022)

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)

Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA)
por: Šoltić, Darija, et al.
Publicado: (2018)

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)

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)

Cannot write session to /tmp/vufind_sessions/sess_mkf85so6rpgv0uub6a9oaf8d28