Results 141 to 150 of about 187,598 (208)

Retrograde nerve growth factor signaling abnormalities in familial dysautonomia. [PDF]

J Clin Invest, 2020
Li L, Gruner K, Tourtellotte WG.
europepmc   +1 more source

<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 [PDF]

Anaesthesia, 1983
R.G. Cox, E. Sumner
openaire   +1 more source

Carbidopa for Afferent Baroreflex Failure in Familial Dysautonomia: A Double-Blind Randomized Crossover Clinical Trial. [PDF]

Hypertension, 2020
Norcliffe-Kaufmann L, Palma JA, Martinez J, Kaufmann H.   +3 more
europepmc   +1 more source

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

Pancreatitis in Familial Dysautonomia Patients.

Dig Dis
Benson AA, Cohen A, Peskin G, Hakimian D, Groisman A, Brooks R, Jacob H, Maayan C.   +7 more
europepmc   +1 more source

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

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

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

ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia. [PDF]

Am J Hum Genet, 2019
Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA.   +19 more
europepmc   +1 more source