Cargando…

Eighteen Years with Spinal Muscular Atrophy (SMA) Type 1

Detalles Bibliográficos
Autores principales:	Valencia, Borja, Bach, John Robert
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	National Research Institute of Tuberculosis and Lung Disease 2013
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4153236/ https://www.ncbi.nlm.nih.gov/pubmed/25191452

Ejemplares similares

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

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

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

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

Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1
por: Boursange, Sophie, et al.
Publicado: (2022)

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

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

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

Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)
por: Oskoui, Maryam, 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)

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)

Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)
por: Oskoui, Maryam, et al.
Publicado: (2023)

Heterogeneity in spinal muscular atrophy with respiratory distress type 1
por: Majid, Aziz, et al.
Publicado: (2012)

Tongue fasciculations in an infant with spinal muscular atrophy type 1
por: Giannopoulou, Eleni Z, et al.
Publicado: (2015)

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

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)

Very severe spinal muscular atrophy (Type 0)
por: Al Dakhoul, Suleiman
Publicado: (2017)

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)

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

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)

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

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

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)

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)

Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation
por: Chiu, Annie Ting Gee, et al.
Publicado: (2018)

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)

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)

Cannot write session to /tmp/vufind_sessions/sess_qukbtditrugsej92fi2nneuk5q