Associated Papers
Advances in the treatment of familial dysautonomia: what does the future hold?
Grobocopatel Marra M et al.
Expert Review of Neurotherapeutics, 2025
Autonomic failure: Clinicopathologic, physiologic, and genetic aspects.
Younger DS
Handbook of Clinical Neurology, 2023
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Structural asymmetry in the eukaryotic Elongator complex.
Dauden MI et al.
Febs Letters, 2018
IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies.
Rubin BY et al.
The Application of Clinical Genetics, 2017
Dimerization of elongator protein 1 is essential for Elongator complex assembly.
Xu H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Modelling familial dysautonomia in human induced pluripotent stem cells.
Lee G et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2011
Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.
Chen YT et al.
Molecular and Cellular Biology, 2009
IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia.
Gold-von Simson G et al.
Pediatric Research, 2008
A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
Hims MM et al.
Genomics, 2007
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.
Hims MM et al.
Journal of Molecular Medicine (berlin, Germany), 2007
Molecular genetics of hereditary sensory neuropathies.
Auer-Grumbach M et al.
Neuromolecular Medicine, 2006
Hereditary sensory neuropathies.
Houlden H et al.
Current Opinion in Neurology, 2004
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.
Slaugenhaupt SA et al.
Human Molecular Genetics, 2004
Identification of the first non-Jewish mutation in familial Dysautonomia.
Leyne M et al.
American Journal of Medical Genetics. Part A, 2003
Familial Dysautonomia: Mechanisms and Models.
Dietrich P et al.
Genetics and Molecular Biology, 0