Results 191 to 200 of about 18,796 (241)
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Clinical Autonomic Research, 2023
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. The FD founder mutation in the ELP1 gene arose within the Ashkenazi Jews in the sixteenth century and is present in 1:30 Jews of European ancestry.
Alejandra González-Duarte +3 more
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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. The FD founder mutation in the ELP1 gene arose within the Ashkenazi Jews in the sixteenth century and is present in 1:30 Jews of European ancestry.
Alejandra González-Duarte +3 more
openaire +3 more sources
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
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
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
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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
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Central effects of Ivermectin in alleviation of Covid-19-induced dysautonomia.
Current Drug Targets, 2022Covid-19 may be associated with various neurological disorders, including dysautonomia, a dysfunction of the autonomic nervous system (ANS). In Covid-19, hypoxia, immuno-inflammatory abnormality, and deregulation of the renin-angiotensin system (RAS) may
H. Al-kuraishy +3 more
semanticscholar +1 more source
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.
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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.
openaire +2 more sources