… SMN2 copy number analysis showed 2 SMN2 copies in 45% of patients, 3 … Deletions of
the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy…

… analysis for the causative mutation or deletion at the 5q13.2 chromosome locus of the
survival motor neuron genes SMN1 and SMN2, with SMN1 the primary disease-causing gene. …

… by homozygous deletions of the survival motor neuron gene (… SMA is characterized by
reduced expression levels of the … gene therapy for symptomatic infantile-onset spinal muscular …

… Spinal Muscular Atrophy (SMA) is a disorder characterized by … of motor neurons in the spinal
cord, leading to muscular atrophy… Deletions of the survival motor neuron gene in unaffected …

… Spinal muscular atrophy (SMA) is characterized by … disease onset, as values in symptomatic
children with SMA remain … Deletions of the survival motor neuron gene in unaffected siblings …

… –25,000 based on genetic testing of symptomatic patients with … the human spinal cord and
subsequent loss of motor neurons [… SMN1 deletion test and SMN2 copy number analysis were …

… characterized by progressive degeneration of motor neurons … carrier frequency of the
heterozygous deletion of the SMN1 … abeparvovec in 14 pre-symptomatic infants of less than 6 …

… chromosome 5q13 and the survival motor neuron genes (SMN) … Spinal muscular atrophies
(SMAs) are characterized by … spinal muscular atrophy: evidence of homozygous deletions of …

… Spinal muscular atrophy (SMA) is an inherited neurodegenerative disease that is characterized
by the progressive atrophy of … mutation or deletion of the survival of motor neuron gene 1 (…

… ) pour Survival Motor Neuron qui permet la survie des neurones … is characterized by the
degeneration of lower motor neurons … In line with that, Jnk3 deletion improves the phenotype in …