Results 151 to 160 of about 253,124 (183)

Familial dysautonomia

Current Paediatrics, 1997
Abstract Familial dysautonomia (FD, Riley-Day syndrome, hereditary sensory and autonomic neuropathy type III) can be considered a genetic model for understanding how perturbations in the autonomic nervous system and the sensory system can compromise cognition and alter behavior.
J. Palma, Horacio Kaufmann
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FAMILIAL DYSAUTONOMIA

Pediatrics, 1955
The case of an infant with familial dysautonomia, complicated by an aspiration (lipoid) pneumonia, is presented. The additional manifestation of tongue-biting was attributed to underlying psychiatric disorder.
J R, HARRIS, H, GALL, S, WASSER
openaire   +3 more sources

Carnosol, a diterpene present in rosemary, increases ELP1 levels in familial Dysautonomia (FD) patient-derived cells and healthy adults: a possible therapy for FD.

Human Molecular Genetics, 2022
Recent research on Familial Dysautonomia (FD) has focused on the development of therapeutics that facilitate the production of the correctly spliced, exon 20-containing, transcript in cells and individuals bearing the splice-altering, FD-causing ...
S. Anderson, Faaria Fasih-Ahmad, A. J. Evans, B. Rubin   +3 more
semanticscholar   +1 more source

Familial dysautonomia

Current Opinion in Genetics & Development, 2002
Familial dysautonomia is a developmental disorder of the sensory and autonomic nervous system. Recent studies have shown that two mutations in the gene IKBKAP are responsible for the disease. IKAP, the IKBKAP-encoded protein, is a member of the recently identified human Elongator complex.
Susan A, Slaugenhaupt, James F, Gusella
openaire   +2 more sources

Uncommon side effects of common drugs in patients with familial dysautonomia

Pharmacoepidemiology and Drug Safety, 2021
Patients with the autosomal recessive disorder of familial dysautonomia typically exhibit exacerbated adverse side effects to many common drugs. We aimed to catalog these adverse effects – with a focus on common drugs that are frequently administered to ...
Liat Perl, David Hakimian, C. Maayan, David Rekhtman, Elchanan Fried, M. Salmon-Divon, Daniel M. Sapozhnikov, D. Cheishvili   +7 more
semanticscholar   +1 more source

Peripheral neuron phenotypes of familial dysautonomia are rescued by AAV-mediated gene therapy

Research Square
Familial dysautonomia (FD) is a rare genetic, neurodevelopmental and neurodegenerative disorder, where a homozygous mutation in the ELP1 gene is responsible for defects and symptoms found in 99% of patients (1).
Nadja Zeltner, H. Wu, Tripti Saini, Jennifer Art, William Delaney, F. Lefcort   +5 more
semanticscholar   +1 more source

Genipin rescues developmental and degenerative defects in familial dysautonomia models and accelerates axon regeneration.

Science Translational Medicine
The peripheral nervous system (PNS) is essential for proper body function. A high percentage of the world's population suffers from nerve degeneration or peripheral nerve damage.
Kenyi Saito-Diaz, P. Dietrich, Tripti Saini, Md Mamunur Rashid, H. Wu, M. Ishan, Xin Sun, Sydney Bedillion, A. Patel, A. R. Prudden, C. Wzientek, Trinity Nora Knight, Ya-Wen Chen, G. Boons, Shuibing Chen, L. Studer, M. Tiemeyer, Bingqian Xu, I. Dragatsis, Hong-Xiang Liu, Nadja Zeltner   +20 more
semanticscholar   +1 more source

Familial dysautonomia

The Journal of Pediatrics, 1966
J, Dancis, A A, Smith
  +5 more sources

Pregnancy in familial dysautonomia

American Journal of Obstetrics and Gynecology, 1978
This report describes the first two known instances of viable pregnancies in two patients with familial dysautonomia (Riley-Day syndrome). The offspring were apparently normal. Several conditions, specifically related to autonomic and sensory dysfunction in pregnancy, are discussed.
R F, Porges, F B, Axelrod, M, Richards
openaire   +2 more sources

Personality Development and Familial Dysautonomia

Pediatrics, 1980
The study sought to establish baselines for personality and frequency of psychopathology in familial dysautonomia (FD). Fifty FD patients, aged 6 to 28 years, served as subjects. FD subjects in all age ranges manifest neurotic patterns, but show no greater incidence of more severe pathology than is found in the general population.
D, Clayson, W, Welton, F B, Axelrod
openaire   +2 more sources