Results 171 to 180 of about 20,100 (227)
Cognitive Fluctuations, Neuropsychiatric Burden, and Quality of Life in Moderate-Advanced Dementia With Lewy Bodies: The Role of Dysautonomia. [PDF]
NeurologyMahajan A +11 more
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Heat stroke associated with novel leukaemia inhibitory factor receptor gene variant in a Chinese infant. [PDF]
Open Life SciChen Y +5 more
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Low-Dose Naltrexone for Managing Pain and Autonomic Symptoms in Patients With Dysautonomia. [PDF]
CureusZapata N +5 more
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Autonomic Dysfunction in a Patient Initially Diagnosed With Parkinson's Disease Who Subsequently Developed Systemic Amyloidosis. [PDF]
CureusHelali JS, Mahindra A, Mohan R, Hwynn N.
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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
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
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
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 +2 more sources
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