Baroreflex dysfunction
H Kaufmann, L Norcliffe-Kaufmann… - New England Journal …, 2020 - Mass Medical Soc
Baroreflex Dysfunction Baroreflexes play both an adaptive and a homeostatic role,
maintaining blood pressure, heart rate, and blood volume within the normal range. Defects …
maintaining blood pressure, heart rate, and blood volume within the normal range. Defects …
Genetic pain loss disorders
A Lischka, P Lassuthova, A Çakar, CJ Record… - Nature Reviews …, 2022 - nature.com
Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory
neuropathies and, if autonomic nerves are involved, hereditary sensory and autonomic …
neuropathies and, if autonomic nerves are involved, hereditary sensory and autonomic …
Dry eye syndrome: comprehensive etiologies and recent clinical trials
R Huang, C Su, L Fang, J Lu, J Chen… - International …, 2022 - Springer
Dry eye syndrome (DES) is multifactorial and likely to be a cause of concern more so than
ever given the rapid pace of modernization, which is directly associated with many of the …
ever given the rapid pace of modernization, which is directly associated with many of the …
Familial dysautonomia: History, genotype, phenotype and translational research
L Norcliffe-Kaufmann, SA Slaugenhaupt… - Progress in …, 2017 - Elsevier
Familial dysautonomia (FD) is a rare neurological disorder caused by a splice mutation in
the IKBKAP gene. The mutation arose in the 1500s within the small Jewish founder …
the IKBKAP gene. The mutation arose in the 1500s within the small Jewish founder …
Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia
AM Cheney, SM Costello, NV Pinkham… - Nature …, 2023 - nature.com
Familial dysautonomia (FD) is a rare genetic neurologic disorder caused by impaired
neuronal development and progressive degeneration of both the peripheral and central …
neuronal development and progressive degeneration of both the peripheral and central …
[HTML][HTML] Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA
G Romano, F Riccardi, E Bussani, S Vodret… - The American Journal of …, 2022 - cell.com
Familial dysautonomia (FD) is a currently untreatable, neurodegenerative disease caused
by a splicing mutation (c. 2204+ 6T> C) that causes skipping of exon 20 of the elongator …
by a splicing mutation (c. 2204+ 6T> C) that causes skipping of exon 20 of the elongator …
[HTML][HTML] Dry eye syndrome
MI Golden, JJ Meyer, BC Patel - 2017 - europepmc.org
Objectives: Identify the etiology of dry eye syndrome. Describe the presentation, diagnosis,
signs, and symptoms of a patient with dry eye syndrome. Outline the treatment and …
signs, and symptoms of a patient with dry eye syndrome. Outline the treatment and …
Familial dysautonomia
A González-Duarte, M Cotrina-Vidal… - Clinical Autonomic …, 2023 - Springer
Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic
neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death …
neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death …
ELP1 splicing correction reverses proprioceptive sensory loss in familial dysautonomia
Familial dysautonomia (FD) is a recessive neurodegenerative disease caused by a splice
mutation in Elongator complex protein 1 (ELP1, also known as IKBKAP); this mutation leads …
mutation in Elongator complex protein 1 (ELP1, also known as IKBKAP); this mutation leads …
The vagus and glossopharyngeal nerves in two autonomic disorders
L Norcliffe-Kaufmann - Journal of Clinical Neurophysiology, 2019 - journals.lww.com
The glossopharyngeal and vagus cranial nerves provide the brainstem with sensory inputs
from different receptors in the heart, lung, and vasculature. This afferent information is critical …
from different receptors in the heart, lung, and vasculature. This afferent information is critical …