In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase.

by Zhe Zhang, Joy Norris, Charles Schwartz, Emil Alexov
Published 2011-01-01

Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase

by Yunhui Peng, Joy Norris, Charles Schwartz, Emil Alexov
Published 2016-01-01

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

by Laila C. Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I. Rodenhiser, Charles Schwartz, Bekim Sadikovic
Published 2018-02-01

Pitolisant, a wake‐promoting agent devoid of psychostimulant properties: Preclinical comparison with amphetamine, modafinil, and solriamfetol

by Stéphane Krief, Isabelle Berrebi‐Bertrand, Isabelle Nagmar, Martin Giret, Simon Belliard, David Perrin, Marilyne Uguen, Philippe Robert, Jeanne‐Marie Lecomte, Jean‐Charles Schwartz, Olivier Finance, Xavier Ligneau
Published 2021-10-01

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type

by Sadegheh Haghshenas, Michael A. Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Haley McConkey, Tugce Balci, Victoria Mok Siu, Cindy D. Skinner, Roger E. Stevenson, Bekim Sadikovic, Charles Schwartz
Published 2021-01-01

An inverse agonist of the histamine H3 receptor improves wakefulness in narcolepsy: Studies in orexin−/− mice and patients

by Jian-Sheng Lin, Yves Dauvilliers, Isabelle Arnulf, Hélène Bastuji, Christelle Anaclet, Régis Parmentier, Laurence Kocher, Masashi Yanagisawa, Philippe Lehert, Xavier Ligneau, David Perrin, Philippe Robert, Michel Roux, Jeanne-Marie Lecomte, Jean-Charles Schwartz
Published 2008-04-01