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Parkinsonism & Related Disorders|October 20, 2018
Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonismFilippo Manti, Francesca Nardecchia, Sabina Barresi, et al.
The Journal of Biological Chemistry|July 12, 2007
Distinct structural changes in a G protein-coupled receptor caused by different classes of agonist ligandsJian Hua Li, Sung-Jun Han, Fadi F Hamdan, et al.
European Journal of Medical Genetics|November 19, 2015
Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delayJosé-Mario Capo-Chichi, Cybel Mehawej, Valerie Delague, et al.
The Journal of Biological Chemistry|May 5, 2005
Pronounced conformational changes following agonist activation of the M(3) muscarinic acetylcholine receptorSung-Jun Han, Fadi F Hamdan, Soo-Kyung Kim, et al.
Journal of Receptor and Signal Transduction Research|April 26, 2008
Metabolic roles of the M3 muscarinic acetylcholine receptor studied with M3 receptor mutant mice: a reviewDinesh Gautam, Jongrye Jeon, Jian Hua Li, et al.
Annals of Clinical and Translational Neurology|June 9, 2022
Assessment of burden and segregation profiles of CNVs in patients with epilepsyClaudia Moreau, Frédérique Tremblay, Stefan Wolking, et al.
European Journal of Human Genetics : EJHG|March 3, 2011
Intellectual disability without epilepsy associated with STXBP1 disruptionFadi F Hamdan, Julie Gauthier, Sylvia Dobrzeniecka, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 1, 2009
Neuronal M3 muscarinic acetylcholine receptors are essential for somatotroph proliferation and normal somatic growthDinesh Gautam, Jongrye Jeon, Matthew F Starost, et al.
Cell Metabolism|June 7, 2006
A critical role for beta cell M3 muscarinic acetylcholine receptors in regulating insulin release and blood glucose homeostasis in vivoDinesh Gautam, Sung-Jun Han, Fadi F Hamdan, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophyFadi F Hamdan, Hirotomo Saitsu, Kiyomi Nishiyama, et al.
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