Results 11 to 20 of about 187,613 (226)

Familial Dysautonomia: Mechanisms and Models

Genetics and Molecular Biology
Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions.
Paula Dietrich, Ioannis Dragatsis
doaj   +5 more sources

Pathologic fracture of mandibular ramus in a patient with familial dysautonomia: A case report

Oral and Maxillofacial Surgery Cases
Familial dysautonomia is a rare disease that impairs the development of sensory nerves, afferent autonomic nerves, and afferent baroreflex pathways.
Patrick J. Nolan, David Koslovsky, Drew Roberts   +2 more
doaj   +2 more sources

Familial dysautonomy (Riley-Day syndrome)

Arquivos de Neuro-Psiquiatria, 1994
Familial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta ...
Edward R. Tonholo Silva, Setsuko Ikeda Takahashi, Lucia Yoshinaga   +2 more
doaj   +2 more sources

Characteristics of ataxic gait in familial dysautonomia patients. [PDF]

PLoS ONE, 2018
Progressive ataxic gait is a common symptom in individuals with Familial Dysautonomia (FD). At least 50% of adults with FD require assistance with walking.
Sigal Portnoy, Channa Maayan, Jeanna Tsenter, Yonah Ofran, Vladimir Goldman, Nurit Hiller, Naama Karniel, Isabella Schwartz   +7 more
doaj   +2 more sources

Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells. [PDF]

PLoS ONE, 2010
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy that results from abnormal development and progressive degeneration of the sensory and autonomic nervous system.
Hadas Keren, Maya Donyo, David Zeevi, Channa Maayan, Tal Pupko, Gil Ast   +5 more
doaj   +2 more sources

IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies

The Application of Clinical Genetics, 2017
Berish Y Rubin, Sylvia L Anderson Department of Biological Sciences, Fordham University, Bronx, NY, USA Abstract: The successful completion of the Human Genome Project led to the discovery of the molecular basis of thousands of genetic disorders ...
Rubin BY, Anderson SL
doaj   +1 more source

Familial Dysautonomia, Report of 3 Cases from Iran and a Discussion about Their General and Anaesthesia Care [PDF]

Novelty in Biomedicine, 2015
Background: Familial Dysautonomia (FD) is a rare hereditary syndrome which is an autosomal recessive trait that typically affects Jewish children. Important signs and symptoms of the disorder include; diminished pain perception, absence of overflow tears,
Badiozaman Radpay, Mahtab Poor Zamany Nejat Kermany, Ali Asghar Halimi-Asl   +2 more
doaj   +2 more sources

Self-Induced Stretch Syncope: An Underrecognized Condition. [PDF]

Ann Child Neurol Soc
Annals of the Child Neurology Society, Volume 4, Issue 3, Page 242-243, September 2026.
Khan SM, Vedanarayanan VJ.
europepmc   +2 more sources

Contemporary management of pain in cirrhosis: Toward precision therapy for pain

Hepatology, EarlyView., 2022
Abstract Chronic pain is highly prevalent in patients with cirrhosis and is associated with poor health‐related quality of life and poor functional status. However, there is limited guidance on appropriate pain management in this population, and pharmacologic treatment can be harmful, leading to adverse outcomes, such as gastrointestinal bleeding ...
Alexis Holman, Neehar Parikh, Dan J. Clauw, David A. Williams, Elliot B. Tapper   +4 more
wiley   +1 more source

nvpinkham/Dysautonomia: Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia

, 2022
R code used in "Gut microbiome dysbiosis drives metabolic dysfunction in Familial ...
Nick Pinkham
core   +1 more source