Spinal muscular atrophy: the past, present, and future of diagnosis and treatment

H Nishio, ETE Niba, T Saito, K Okamoto… - International Journal of …, 2023 - mdpi.com
Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive
inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the …

Spinal muscular atrophy: from gene discovery to clinical trials

DK Nurputra, PS Lai, NIF Harahap… - Annals of human …, 2013 - Wiley Online Library
Spinal muscular atrophy (SMA) is a common neuromuscular disorder with autosomal
recessive inheritance, resulting in the degeneration of motor neurons. The incidence of the …

Spinal muscular atrophy: Diagnosis, incidence, and newborn screening in Japan

T Kimizu, S Ida, K Okamoto, H Awano… - International journal of …, 2021 - mdpi.com
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that causes
degeneration of anterior horn cells in the human spinal cord and subsequent loss of motor …

Newborn screening for spinal muscular atrophy: Anticipating an imminent need

HC Phan, JL Taylor, H Hannon, R Howell - Seminars in perinatology, 2015 - Elsevier
Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality.
Children with type I SMA typically die by the age of 2 years. Recent progress in gene …

A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients

S Savad, MR Ashrafi, N Samadaian, M Heidari… - Scientific Reports, 2023 - nature.com
Spinal muscular atrophy (SMA) is among the most common autosomal recessive disorders
with different incidence rates in different ethnic groups. In the current study, we have …

Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene

ETE Niba, H Nishio, YOS Wijaya, P San Lai… - Brain and …, 2021 - Elsevier
Background Spinal muscular atrophy (SMA) is a neuromuscular disease caused by
homozygous deletion of SMN1 exons 7 and 8. However, exon 8 is retained in some cases …

Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan

S Sonehara, R Bo, Y Nambu, K Iketani, T Lee… - Genes, 2023 - mdpi.com
Newborn screening (NBS) for spinal muscular atrophy (SMA) is necessary, as favorable
outcomes can be achieved by treatment with disease-modifying drugs in early infancy …

Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients

T Yamamoto, H Sato, P San Lai, DK Nurputra… - Brain and …, 2014 - Elsevier
Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular
disorder caused by deletion or intragenic mutation of SMN1. SMA is classified into several …

Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III

GY Zheleznyakova, AV Kiselev, VG Vakharlovsky… - BMC medical …, 2011 - Springer
Background Spinal muscular atrophy (SMA type I, II and III) is an autosomal recessive
neuromuscular disorder caused by mutations in the survival motor neuron gene (SMN1) …

A Novel Protein Isoform of the Multicopy Human NAIP Gene Derives from Intragenic Alu SINE Promoters

MT Romanish, H Nakamura, CB Lai, Y Wang… - PloS one, 2009 - journals.plos.org
The human neuronal apoptosis inhibitory protein (NAIP) gene is no longer principally
considered a member of the Inhibitor of Apoptosis Protein (IAP) family, as its domain …