Hereditary sensory and autonomic neuropathies
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Publisher
Elsevier
Reference111 articles.
1. A stop codon mutation in SCN9A causes lack of pain sensation;Ahmad;Hum Mol Genet,2007
2. Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia;Anderson;Biochem Biophys Res Commun,2005
3. Familial dysautonomia is caused by mutations of the IKAP gene;Anderson;Am J Hum Genet,2001
4. EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia;Anderson;Biochem Biophys Res Commun,2003
5. Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia;Anderson;Biochem Biophys Res Commun,2003
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1. Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1);Genes;2024-05-26
2. Autoimmune Autonomic Neuropathy: From Pathogenesis to Diagnosis;International Journal of Molecular Sciences;2024-02-15
3. The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy;Biomedicines;2023-05-28
4. Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family;Genes;2023-04-18
5. A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness;Annals of Human Genetics;2023-03
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