Results 31 to 40 of about 187,598 (208)

Neuronal and glial cell alterations involved in the retinal degeneration of the familial dysautonomia optic neuropathy. [PDF]

Glia
Familial dysautonomia (FD) is a rare genetic neurodevelopmental and neurodegenerative disorder. In addition to the autonomic and peripheral sensory neuropathies that challenge patient survival, one of the most debilitating symptoms affecting patients ...
Schultz A, Albertos-Arranz H, Sáez XS, Morgan J, Darland DC, Gonzalez-Duarte A, Kaufmann H, Mendoza-Santiesteban CE, Cuenca N, Lefcort F.   +9 more
europepmc   +2 more sources

Renal disease in familial dysautonomia [PDF]

, 1980
Renal disease in familial dysautonomia. A study of renal disease in familial dysautonomia identified excess glomerulosclerosis in 10 of 13 autopsied and biopsied patients. Sympathetic nerve terminals could not be found on renal vessels in biopsied tissue;
Gluck, Melvin, Pearson, John, Gallo, Gloria, Axelrod, Felicia   +3 more
core   +1 more source

Case report: Perioperative management of a patient with familial dysautonomia

, 2021
Familial dysautonomia is a rare autosomal recessive neurodegenerative disease affecting cells of the autonomic nervous system. Patients with this disease are insensitive to pain but their autonomic nervous system is still activated with noxious stimuli ...
Minnea Kalra, Melodie Sarebanha, A Joseph Layon, Laura Valente, Ettore Crimi*   +4 more
core   +1 more source

Induced pluripotent stem cell (iPSC) lines from two individuals carrying a homozygous (BGUi007-A) and a heterozygous (BGUi006-A) mutation in ELP1 for in vitro modeling of familial dysautonomia

Stem Cell Research, 2021
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy affecting the development and function of the peripheral nervous system. FD causing gene is IKBKAP, encoding IkappaB kinase complex-associated protein also named elongator complex
Lior Dor, Tatiana Rabinski, Dor Zlotnik, Michal Shilian, Miguel Weil, Gad D. Vatine   +5 more
doaj   +1 more source

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

, 2021
Background: The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of ...
Borghi C, Biasucci G, EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)   +2 more
core   +1 more source

Elongator and codon bias regulate protein levels in mammalian peripheral neurons

Nature Communications, 2018
Familial dysautonomia is linked to mutations in IKBKAP, a scaffolding protein for the Elongator complex, which regulates codon-biased gene translation in yeast. Here the authors show in mammalian neurons that IKBKAP loss alters expression of codon-biased
Joy Goffena, Frances Lefcort, Yongqing Zhang, Elin Lehrmann, Marta Chaverra, Jehremy Felig, Joseph Walters, Richard Buksch, Kevin G. Becker, Lynn George   +9 more
doaj   +1 more source

Severe heart disease in an unusual case of familial amyloid polyneuropathy type I

Revista Portuguesa de Cardiologia, 2013
Familial amyloid polyneuropathy type I (FAP type I) is a rare hereditary systemic amyloidosis caused by the Val30Met mutation in the transthyretin (TTR) gene. The clinical onset and spectrum are variable and depend on phenotypic heterogeneity.
Miguel Oliveira Santos, Dulce Brito
doaj   +1 more source

A conserved and essential basic region mediates tRNA binding to the Elp1 subunit of the Saccharomyces cerevisiae Elongator complex [PDF]

, 2014
Elongator is a conserved, multi-protein complex discovered in Saccharomyces cerevisiae, loss of which confers a range of pleiotropic phenotypes. Elongator in higher eukaryotes is required for normal growth and development and a mutation in the largest ...
Bandau, Susanne, Stark, Michael J. R., Di Santo, Rachael   +2 more
core   +1 more source

Familial dysautonomia as an anaesthetic hazard [PDF]

Canadian Anaesthetists’ Society Journal, 1965
Familial dysautonomia is described as presented in the literature and as it appeared in a young girl who required six anaesthetics for major surgical procedures. Intravenous thiopental was used for induction and invariably caused a fairly sharp drop in blood pressure. A technique of light anaesthesia with nitrous oxide and oxygen was quite satisfactory
openaire   +2 more sources

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky, Melissa Lopez, Janet Miller, Millenia Jimenez, Eric M. Liotta, Igor J. Koralnik   +5 more
wiley   +1 more source