Condition: HMN (Hereditary Motor Neuropathy) Proximal Type I
rs104893922 in
SMN1;SMN2 gene and
HMN (Hereditary Motor Neuropathy) Proximal Type I
PMID 10732817 1997 Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
PMID 15580564 2005 Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
PMID 14715275 2004 Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.
PMID 21088113 2011 HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.
PMID 15249625 2004 Detection of novel mutations in the SMN Tudor domain in type I SMA patients.
PMID 7813012 1995 Identification and characterization of a spinal muscular atrophy-determining gene.
PMID 21389246 2011 The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.
PMID 9147655 1997 Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?
PMID 17761659 2007 Consensus statement for standard of care in spinal muscular atrophy.
PMID 22510849 2012 Clinical utility gene card for: proximal spinal muscular atrophy.
PMID 27939059 2016 Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study.
PMID 8922999 1996 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-determining gene.
rs104893934 in
SMN2;SMN1 gene and
HMN (Hereditary Motor Neuropathy) Proximal Type I
PMID 7813012 1995 Identification and characterization of a spinal muscular atrophy-determining gene.
PMID 21088113 2011 HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.
PMID 9147655 1997 Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?
PMID 27939059 2016 Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study.
PMID 14715275 2004 Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.
PMID 15580564 2005 Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
PMID 21389246 2011 The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.
PMID 17761659 2007 Consensus statement for standard of care in spinal muscular atrophy.
PMID 22510849 2012 Clinical utility gene card for: proximal spinal muscular atrophy.
PMID 10732817 1997 Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
PMID 15249625 2004 Detection of novel mutations in the SMN Tudor domain in type I SMA patients.