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Article
Open Access5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2
Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is no con...
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Article
Open AccessExecutive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) issues from mutations in the survival of motor neuron (SMN) 1 gene. Loss or reduction of the SMN protein results in progressive muscle weakness. Whether this protein deficiency also ...
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Article
Neurofilament light chain in serum of adolescent and adult SMA patients under treatment with nusinersen
To determine the diagnostic and monitoring value of serum neurofilament light chain (NfL) in spinal muscular atrophy (SMA).
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Article
Open AccessGenotypes and phenotypes of patients with Lafora disease living in Germany
Lafora progressive myoclonus epilepsy (Lafora disease) is a rare, usually childhood-onset, fatal neurodegenerative disease caused by biallelic mutations in EPM2A (Laforin) or EPM2B (NHLRC1; Malin). The epidemiolo...
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Article
Therapieevaluation bei Patienten mit 5q-assoziierter spinaler Muskelatrophie
Die spinale Muskelatrophie (SMA) ist eine progressive, autosomal-rezessive neurodegenerative Erkrankung mit einer Inzidenz von 1:10.000 Lebendgeburten. Mit besserem Verständnis der molekularen Basis der SMA in...
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Article
Intrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients
Spinal muscular atrophy is a genetic motor neuron disease that leads to progressive muscular atrophy and muscle weakness. In December 2016, the Food and Drug Administration, and in June 2017, the European Medi...
