… Spinal muscular atrophy (SMA) is a motor neuron disease characterized by degeneration
of spinal cord anterior horn cells and muscular atrophy. The autosomal recessive form of this …

… deletions of two candidate genes for spinal muscular atrophy (SMA), the survival motor
neuron (SMN) and neuronal … An asymptomatic individual with homozygous deletion of exons 7 …

… Spinal muscular atrophy (SMA) is characterized by degeneration of … Characterization of
survival motor neuron (SMNt) gene deletions in asymptomatic carriers of spinal muscular atrophy…

… the telomeric survival motor neuron gene (SMN1). Here we present molecular genetic data
… Sequence analysis of SMN1 cDNA clones showed a complete deletion of exons 5 and 6. To …

… We present the molecular analysis of 42 SMA patients who carry homozygous deletions
of telSMN exon 7 but not of … of survival motor neuron (SMNT) gene deletions in asymptomatic …

… gene deletion or conversion of the sequences in the SMN T … Dosage analysis of the SMN
T gene indicates that the … serine to isoleucine at codon 262 in SMNT. Patient 6376 I-1 is …

… Previous deletion analysis of telSMN in 191 SMA patients mainly of German origin has …
three families, we performed haplotype analysis with the polymorphic multicopy markers C212 …

… the telomeric survival motor neuron gene (SMNt) in most patients, and deletion of the neuronal
… The results of the analysis of SMNt and NAIP genotypes for 143 SMA patients, 200 SMA …

… of function of the survival motor neuron gene SMN1 on 5q13 but … genetic and phenotypic
analysis in Spanish spinal muscular … Deletions of the survival motor neuron gene in unaffected …

… two SMNC genes in a second asymptomatic carrier (table 3) … survival motor neuron gene in
patients with spinal muscular … RNA deletions of the 5q13 region in spinal muscular atrophies…