Condition: Juvenile Spinal Muscular Atrophy


rs104893932 in SMN1;SMN2 gene and Juvenile Spinal Muscular Atrophy PMID 14715275 2004 Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.

PMID 9158159 1997 Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

PMID 10732817 1997 Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.

PMID 17761659 2007 Consensus statement for standard of care in spinal muscular atrophy.

PMID 9837824 1998 Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

rs121909192 in SMN2 gene and Juvenile Spinal Muscular Atrophy PMID 19716110 2009 A positive modifier of spinal muscular atrophy in the SMN2 gene.

PMID 14715275 2004 Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.

PMID 9158159 1997 Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

PMID 9837824 1998 Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

PMID 10732817 1997 Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.

rs104893927 in SMN2;SMN1 gene and Juvenile Spinal Muscular Atrophy PMID 10732817 1997 Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.

PMID 9158159 1997 Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

PMID 14715275 2004 Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.

PMID 9837824 1998 Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

PMID 17761659 2007 Consensus statement for standard of care in spinal muscular atrophy.