254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 – 30 January 2022
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference45 articles.
1. Measuring outcomes in adults with spinal muscular atrophy - challenges and future directions - meeting report;Sansone;J Neuromuscul Disord,2020
2. Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2;Cartegni;Am J Hum Genet,2006
3. hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing;Kashima;Am Mol Genet,2007
4. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy;Feldkötter;Am J Hum Genet,2002
5. Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4;Wadman;Eur J Neurol,2018
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1. Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol;Neurology and Therapy;2024-01-05
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