Results 121 to 130 of about 253,124 (183)

<i>ELP1</i>, the Gene Mutated in Familial Dysautonomia, Is Required for Normal Enteric Nervous System Development and Maintenance and for Gut Epithelium Homeostasis. [PDF]

J Neurosci
Chaverra M, Cheney AM, Scheel A, Miller A, George L, Schultz A, Henningsen K, Kominsky D, Walk H, Kennedy WR, Kaufmann H, Walk S, Copié V, Lefcort F.   +13 more
europepmc   +1 more source

Familial dysautonomia (Riley-Day syndrome).

, 1989
Sky Rc
openalex   +2 more sources

Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system. [PDF]

Sci Rep
Harripaul R, Morini E, Salani M, Logan E, Kirchner E, Bolduc J, Chekuri A, Currall B, Yadav R, Erdin S, Talkowski ME, Gao D, Slaugenhaupt S.   +12 more
europepmc   +1 more source

Familial Dysautonomia Is Caused by Mutations of the IKAP Gene [PDF]

, 2001
Sylvia L. Anderson, Rocco Coli, Ira Daly, Elizabeth Kichula, Matthew J. Rork, Sabrina A. Volpi, Josef Ekstein, Berish Y. Rubin   +7 more
openalex   +1 more source

Norepinephrine transporter defects lead to sympathetic hyperactivity in stem cell and mouse models of Familial Dysautonomia

, 2021
Hsueh Fu Wu, Wenxin Yu, Joeseph Carey, Frances Lefcort, Hong‐Xiang Liu, Nadja Zeltner   +5 more
openalex   +1 more source

Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia. [PDF]

Clin Auton Res, 2019
Won E, Palma JA, Kaufmann H, Milla SS, Cohen B, Norcliffe-Kaufmann L, Babb JS, Lui YW.   +7 more
europepmc   +1 more source

Identification of genes regulated by IKBKAP: Investigating why neurons die in the disease Familial Dysautonomia

, 2013
Connor Murnion
openalex   +1 more source

Improvement of daytime hypercapnia with nocturnal non-invasive ventilation in familial dysautonomia. [PDF]

Clin Auton Res, 2019
Kaufmann H, Norcliffe-Kaufmann L, Palma JA.   +2 more
europepmc   +1 more source

Use of vaccinia virus vectors to study protein processing in human disease. Normal nerve growth factor processing and secretion in cultured fibroblasts from patients with familial dysautonomia. [PDF]

, 1988
Robert H. Edwards, William J. Rutter
openalex   +1 more source

ELP1 Gene Augmentation Restores Visual Function in a Mouse Model of Familial Dysautonomia

Hu Cheng, Swanand Koli, Kate J. Lewis, Yasaman Anvarinia, Yating Liu, Morgan Erdoes, Caitlin Elizabeth Keiper, Reynette Estelien, Matthew Chagnon, Luk H Vandenberghe, Dadi Gao, Frances Lefcort, Elisabetta Morini, Susan A Slaugenhaupt, Anil Chekuri   +14 more
openalex   +2 more sources