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Clinical Features and Biomarkers Associated With Intensive Care-Dependent Refractory NMDAR Encephalitis: A Retrospective Cohort Study. [PDF]
Neurol Neuroimmunol NeuroinflammElosua-Bayes I +16 more
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Unraveling the cardiovascular burden of long COVID: symptom profiles, underlying mechanisms, and clinical management insights. [PDF]
Front Cardiovasc MedSheng J +5 more
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Cutoffs, sensitivity and specificity of the Ewing battery in evaluating autonomic nervous system disorders: a systematic review. [PDF]
Clin Auton ResBarkoula TR +4 more
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Exploring the Effects of Pemivibart Monoclonal Antibody Infusion in Long COVID: A Case Series Offering Initial Clinical Insights. [PDF]
CureusBaratta JM, Jensen KA, Cobb C.
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Current Opinion in Genetics and 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
exaly +3 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
exaly +3 more sources
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
openaire +2 more sources
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 +2 more sources
Journal of the American Veterinary Medical Association, 1988
Autonomic dysfunction was diagnosed in a 2.5-year-old spayed domestic shorthair cat. The cat had an 8-day history of progressive anorexia, signs of depression, constipation, weight loss, and intermittent regurgitation. Physical examination findings were signs of depression, dehydration, cachexia, bradycardia, bilateral nonresponsive mydriasis, prolapse
D D, Canton, N J, Sharp, G D, Aguirre
openaire +2 more sources
Autonomic dysfunction was diagnosed in a 2.5-year-old spayed domestic shorthair cat. The cat had an 8-day history of progressive anorexia, signs of depression, constipation, weight loss, and intermittent regurgitation. Physical examination findings were signs of depression, dehydration, cachexia, bradycardia, bilateral nonresponsive mydriasis, prolapse
D D, Canton, N J, Sharp, G D, Aguirre
openaire +2 more sources
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
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
openaire +2 more sources