Über SMA
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Referenzen
- Bowerman M, et al. Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Dis Model Mech 2017; 10:943-954.
- Wirth B, et al. Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next. Annu Rev Genomics Hum Genet 2020; 21:231-261.
- Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 2000; 15:228-237.
- Singh RN, et al. Diverse role of survival motor neuron protein. Biochim Biophys Acta Gene Regul Mech 2017; 1860:299-315.
- Lauria F, et al. SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy. Nat Cell Biol 2020; 22:1239-1251.
- Chaytow H, et al. The role of survival motor neuron protein (SMN) in protein homeostasis. Cell Mol Life Sci 2018; 75:3877-3894.
- Mercuri E, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2018; 28:103-115.
- Nash LA, et al. Spinal Muscular Atrophy: More than a Disease of Motor Neurons? Curr Mol Med 2016; 16:779-792.
- Goemans N, TREAT-NMD Conference 2019, Oral presentation "How do we set the right expectations when treating SMA?”
- Rouault F, et al. Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients. Neuromuscul Disord 2017; 27:428-438.
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