Results 21 to 30 of about 253,124 (183)

Longitudinal changes in the macula and optic nerve in familial dysautonomia. [PDF]

J Neurol, 2021
Kfir J, Wu M, Liu M, Raju L, Schuman JS, Ishikawa H, Vanegas IM, Mendoza-Santiesteban CE, Palma JA, Norcliffe-Kaufmann L, Morgenstein B, Kaufmann H, Wollstein G.   +12 more
europepmc   +4 more sources

ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia. [PDF]

Am J Hum Genet, 2019
Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA.   +19 more
europepmc   +4 more sources

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   +2 more sources

Familial Dysautonomia [PDF]

BMJ, 1965
Y R AHUJA, H FUDENBERG
openalex   +4 more sources

The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system [PDF]

Disease Models & Mechanisms, 2017
Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction.
Marta Chaverra, Lynn George, Marc Mergy, Hannah Waller, Katharine Kujawa, Connor Murnion, Ezekiel Sharples, Julian Thorne, Nathaniel Podgajny, Andrea Grindeland, Yumi Ueki, Steven Eiger, Cassie Cusick, A. Michael Babcock, George A. Carlson, Frances Lefcort   +15 more
doaj   +2 more sources

Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure. [PDF]

PLoS ONE
Familial Dysautonomia (FD) is a rare disease caused by ELP1 exon 20 skipping. Here we clarify the role of RNA Polymerase II (RNAPII) and chromatin on this splicing event.
Federico Riccardi, Giulia Romano, Danilo Licastro, Franco Pagani   +3 more
doaj   +2 more sources

Commentary: Congenital corneal anesthesia: A rare form of type-4 familial dysautonomia [PDF]

Indian Journal of Ophthalmology, 2022
Muralidhar Ramappa, Sunita Chaurasia, Lokesh Lingappa, Srinivas Namineni, Deepak P Edward   +4 more
doaj   +2 more sources

Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia

Neurobiology of Disease
Familial Dysautonomia (FD) is an autosomal recessive disorder caused by a splice site mutation in the gene ELP1, which disproportionally affects neurons.
Frederik Arnskötter, Patricia Benites Goncalves da Silva, Mackenna E. Schouw, Chiara Lukasch, Luca Bianchini, Laura Sieber, Jesus Garcia-Lopez, Shiekh Tanveer Ahmad, Yiran Li, Hong Lin, Piyush Joshi, Lisa Spänig, Magdalena Radoš, Mykola Roiuk, Mari Sepp, Marc Zuckermann, Paul A. Northcott, Annarita Patrizi, Lena M. Kutscher   +18 more
doaj   +2 more sources

Familial distal dysautonomia. [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1989
A patient is described who presented with painful feet on exercise. He had no evidence of peripheral vascular disease but did have anhidrosis and failure of vasodilatation in the hands and feet suggesting peripheral dysautonomia. Examination of his mother and a cousin and clinical histories of blood relatives suggested that his problem was a severe ...
Brian Robinson, Ralph H. Johnson, David Abernethy, Linda Holloway   +3 more
openalex   +4 more sources

Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia. [PDF]

Am J Hum Genet, 2023
Morini E, Chekuri A, Logan EM, Bolduc JM, Kirchner EG, Salani M, Krauson AJ, Narasimhan J, Gabbeta V, Grover S, Dakka A, Mollin A, Jung SP, Zhao X, Zhang N, Zhang S, Arnold M, Woll MG, Naryshkin NA, Weetall M, Slaugenhaupt SA.   +20 more
europepmc   +2 more sources