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Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy

PloS one, 2022-11, Vol.17 (11), p.e0276756-e0276756

2022

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Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey

Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.1-217, Article 217

2020

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"I have SMA, SMA doesn't have me": a qualitative snapshot into the challenges, successes, and quality of life of adolescents and young adults with SMA

Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.96-96, Article 96

2021

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A qualitative study of perceptions of meaningful change in spinal muscular atrophy

BMC neurology, 2017-04, Vol.17 (1), p.68-68, Article 68

2017

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Evaluating Perceived Fatigue within an Adult Spinal Muscular Atrophy Population

Neurology and therapy, 2023-12, Vol.12 (6), p.2161-2175

2023

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The SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the United States

Orphanet journal of rare diseases, 2020-05, Vol.15 (1), p.118-118, Article 118

2020

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The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models

Human molecular genetics, 2013-10, Vol.22 (20), p.4084-4101

2013

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Effects of the COVID-19 Pandemic on SMA Screening and Care: Physician and Community Insights

Neurology and therapy, 2023-10, Vol.12 (5), p.1631-1647

2023

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Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers' perspective: a two-part study

BMC neurology, 2021-03, Vol.21 (1), p.143-143, Article 143

2021

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Economic burden of spinal muscular atrophy: an analysis of claims data

Journal of market access & health policy, 2020, Vol.8 (1), p.1843277

2020

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Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

Human molecular genetics, 2010-02, Vol.19 (3), p.454-467

2010

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Correction to: Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers’ perspective: a two-part study

BMC neurology, 2021-09, Vol.21 (1), p.1-354, Article 354

2021

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Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy

Human molecular genetics, 2005-07, Vol.14 (14), p.2003-2018

2005

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Valproic acid increases SMN levels in spinal muscular atrophy patient cells

Annals of neurology, 2003-11, Vol.54 (5), p.647-654

2003

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Oxygen Regulation of Airway Branching in Drosophila Is Mediated by Branchless FGF

Cell, 1999-10, Vol.99 (2), p.211-220

1999

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DcpS as a Therapeutic Target for Spinal Muscular Atrophy

ACS chemical biology, 2008-11, Vol.3 (11), p.711-722

2008

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An overview of the Cure SMA membership database: Highlights of key demographic and clinical characteristics of SMA members

Journal of neuromuscular diseases, 2018-05, Vol.5 (2), p.167-176

2018

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Assessment of Referral Patterns, Referral Barriers, and Diagnostic Patterns in Spinal Muscular Atrophy (SMA) Amongst Pediatricians

Pediatrics (Evanston), 2021-03, Vol.147 (3_MeetingAbstract), p.64-66

2021

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Evaluating Benefit-risk Decision-making in Spinal Muscular Atrophy: A First-ever Study to Assess Risk Tolerance in the SMA Patient Community

Clinical therapeutics, 2019-05, Vol.41 (5), p.943-960.e4

2019

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Assessing perspectives of disease burden and clinically meaningful changes using the Spinal Muscular Atrophy Health Index in adolescents and young adults

Muscle & nerve, 2022-09, Vol.66 (3), p.276-281

2022

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Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study

BMC neurology, 2015-10, Vol.15 (1), p.217-217, Article 217

2015

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Clinical and Research Readiness for Spinal Muscular Atrophy: The Time Is Now for Knowledge Translation

Physical therapy, 2022-10, Vol.102 (10), p.1

2022

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Telemedicine Use, Comfort, and Perceived Effectiveness in the Spinal Muscular Atrophy Community

Telemedicine journal and e-health, 2024-02, Vol.30 (2), p.536

2024

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Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy

Prenatal diagnosis, 2022-10, Vol.42 (11), p.1409-1419

2022

Volltextzugriff (PDF)

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening

Journal of neuromuscular diseases, 2018, Vol.5 (2), p.145-158

2018

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Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy

Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey

"I have SMA, SMA doesn't have me": a qualitative snapshot into the challenges, successes, and quality of life of adolescents and young adults with SMA

A qualitative study of perceptions of meaningful change in spinal muscular atrophy

Evaluating Perceived Fatigue within an Adult Spinal Muscular Atrophy Population

The SMA Clinical Trial Readiness Program: creation and evaluation of a program to enhance SMA trial readiness in the United States

The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models

Effects of the COVID-19 Pandemic on SMA Screening and Care: Physician and Community Insights

Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers' perspective: a two-part study

Economic burden of spinal muscular atrophy: an analysis of claims data

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

Correction to: Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers’ perspective: a two-part study

Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy

Valproic acid increases SMN levels in spinal muscular atrophy patient cells

Oxygen Regulation of Airway Branching in Drosophila Is Mediated by Branchless FGF

DcpS as a Therapeutic Target for Spinal Muscular Atrophy

An overview of the Cure SMA membership database: Highlights of key demographic and clinical characteristics of SMA members

Assessment of Referral Patterns, Referral Barriers, and Diagnostic Patterns in Spinal Muscular Atrophy (SMA) Amongst Pediatricians

Evaluating Benefit-risk Decision-making in Spinal Muscular Atrophy: A First-ever Study to Assess Risk Tolerance in the SMA Patient Community

Assessing perspectives of disease burden and clinically meaningful changes using the Spinal Muscular Atrophy Health Index in adolescents and young adults

Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study

Clinical and Research Readiness for Spinal Muscular Atrophy: The Time Is Now for Knowledge Translation

Telemedicine Use, Comfort, and Perceived Effectiveness in the Spinal Muscular Atrophy Community

Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening

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