An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

B Wirth - Human mutation, 2000 - Wiley Online Library
Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the
spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle …

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy

Y Sun, M Grimmler, V Schwarzer, F Schoenen… - Human …, 2005 - Wiley Online Library
The autosomal recessive spinal muscular atrophy (SMA), a neuromuscular disease and
frequent cause of early death in childhood, is caused in 96% of patients by homozygous …

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: mutations, testing, and clinical relevance

MC Keinath, DE Prior, TW Prior - The Application of Clinical …, 2021 - Taylor & Francis
Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes
degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which …

Spinal muscular atrophy: mechanisms and therapeutic strategies

CL Lorson, H Rindt, M Shababi - Human molecular genetics, 2010 - academic.oup.com
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and
a leading genetic cause of infantile mortality. SMA is caused by mutation or deletion of …

Detection of the Survival Motor Neuron (SMN) Genes by FISH: Further Evidence for a Role for SMN2 in the Modulation of Disease Severity in SMA Patients

T Vitali, V Sossi, F Tiziano, S Zappata… - Human molecular …, 1999 - academic.oup.com
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder
which presents with various clinical phenotypes ranging from severe to very mild. All forms …

Spinal muscular atrophy

A D'Amico, E Mercuri, FD Tiziano, E Bertini - Orphanet journal of rare …, 2011 - Springer
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease
characterized by degeneration of alpha motor neurons in the spinal cord, resulting in …

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in …

E Hahnen, R Forkert, C Marke… - Human molecular …, 1995 - academic.oup.com
Proximal spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular
disorder characterized by degeneration of anterior horn cells in the spinal cord leading to …

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA …

DW Parsons, PE McAndrew, UR Monani… - Human molecular …, 1996 - academic.oup.com
The gene for autosomal recessive spinal muscular atrophy (SMA) has been mapped to 5q12
in a region that contains repeated markers and genes. Three cDNAs that detect deletions in …

Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

C Brahe, O Clermont, S Zappata… - Human molecular …, 1996 - academic.oup.com
Recently, a spinal muscular atrophy (SMA) determining gene, termed survival motor neuron
(SMN) gene, has been isolated from the 5q13 region and found deleted in most patients. A …