Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia-Reference-Cited by-同舟云学术

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

Published:2024-09 Issue: Volume:199 Page:106600
ISSN:0969-9961
Container-title:Neurobiology of Disease
language:en
Short-container-title:Neurobiology of Disease

Author:

Arnskötter Frederik,da Silva Patricia Benites Goncalves,Schouw Mackenna E.,Lukasch Chiara,Bianchini Luca,Sieber Laura,Garcia-Lopez Jesus,Ahmad Shiekh Tanveer,Li Yiran,Lin Hong,Joshi Piyush,Spänig Lisa,Radoš Magdalena,Roiuk Mykola,Sepp Mari,Zuckermann Marc,Northcott Paul A.,Patrizi Annarita,Kutscher Lena M.

Publisher

Elsevier BV

Reference83 articles.

1. Cryo-EM structures of the human Elongator complex at work;Abbassi;Nat. Commun.,2024

2. Microdeletions of ELP4 are associated with language impairment, autism spectrum disorder, and mental retardation;Addis;Hum. Mutat.,2015

3. Familial dysautonomia is caused by mutations of the IKAP gene;Anderson;Am. J. Hum. Genet.,2001

4. Hereditary sensory and autonomic neuropathies: types II, III, and IV;Axelrod;Orphanet J. Rare Dis.,2007

5. Survival in familial dysautonomia: impact of early intervention;Axelrod;J. Pediatr.,2002

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