Spinal muscular atrophy type 1: A fatal case in a 1‐year‐old girl with delayed diagnosis
Key Clinical Message Spinal muscular atrophy (SMA) is a growing clinical concern, necessitating higher awareness and early detection. This case study focuses on the difficulties and advances in detecting and treating SMA. It emphasizes the value of early
Saira Batool Rizvi+6 more
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Search strategies for new born screening for spinal muscular atrophy (SMA)
Marie Carrigan
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A Comprehensive Review of Spinal Muscular Atrophy (Sma): Treatment Strategies
Spinal muscular atrophy (SMA), a rare genetic disorder causing progressive muscle weakness due to SMN1 gene mutations, affects approximately 1 in 10,000 live births and historically lacked disease-modifying treatments. The approval of Spinraza (nusinersen) with the aid of the FDA in 2016 marked a paradigm shift because the first therapy for SMA ...
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Spinal Muscular Atrophy (SMA) and Medical Nutrition Therapy
Mücahit MUSLU
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Schwann cell pathology in spinal muscular atrophy (SMA)
The childhood neuromuscular disease spinal muscular atrophy (SMA) is caused by low levels of survival motor neuron (SMN) protein. Historically, SMA has been characterised as a disease primarily affecting lower motor neurons. However, recent breakthroughs have revealed defects in other non-neuronal cells and tissues. In vivo analysis of peripheral nerve
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SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion [PDF]
Hans Scheffer+5 more
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An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA) [PDF]
Claudia Helmken+5 more
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Recent Progress in the Identification of the X-Linked Infantile Spinal Muscular Atrophy (Xl-SMA) Gene: Implications for Neuronal Apoptosis [PDF]
L. Baumbach+7 more
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