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erythrokeratodermia with ataxia相关文献:
Erythrokeratodermia with ataxia.
Giroux JM, Barbeau A.
Arch Dermatol. 1972 Aug;106(2):183-8.
PMID:5048218
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.
Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K.
JAMA Neurol. 2015 Jul;72(7):797-805. doi: 10.1001/jamaneurol.2015.0610.
PMID:26010696
A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.
Bourassa CV, Raskin S, Serafini S, Teive HA, Dion PA, Rouleau GA.
JAMA Neurol. 2015 Aug;72(8):942-3. doi: 10.1001/jamaneurol.2015.0888.
PMID:26258735
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
Nishide M, Le Marquand K, Davis MR, Halmágyi GM, Fellner A, Narayanan RK, Kennerson ML, Reddel SW, Worgan L, Panegyres PK, Kumar KR.
Cerebellum. 2024 Feb;23(1):268-277. doi: 10.1007/s12311-023-01522-8. Epub 2023 Jan 25.
PMID:36696030
ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.
Gyening YK, Chauhan NK, Tytanic M, Ea V, Brush RS, Agbaga MP.
J Lipid Res. 2023 Jan;64(1):100317. doi: 10.1016/j.jlr.2022.100317. Epub 2022 Dec 1.
PMID:36464075
Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort.
Ozaki K, Ansai A, Nobuhara K, Araki T, Kubodera T, Ishii T, Higashi M, Sato N, Soga K, Mizusawa H, Ishikawa K, Yokota T.
Parkinsonism Relat Disord. 2019 Aug;65:238-242. doi: 10.1016/j.parkreldis.2019.05.019. Epub 2019 May 13.
PMID:31105016
Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes.
Richard G, Lin JP, Smith L, Whyte YM, Itin P, Wollina U, Epstein E Jr, Hohl D, Giroux JM, Charnas L, Bale SJ, DiGiovanna JJ.
J Invest Dermatol. 1997 Nov;109(5):666-71. doi: 10.1111/1523-1747.ep12337713.
PMID:9347797
A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.
Gyening YK, Boris K, Cyril M, Brush RS, Nassogne MC, Agbaga MP.
Acta Neuropathol Commun. 2023 Aug 11;11(1):131. doi: 10.1186/s40478-023-01628-4.
PMID:37568198
Synapse-Specific Defects in Synaptic Transmission in the Cerebellum of W246G Mutant ELOVL4 Rats-a Model of Human SCA34.
Nagaraja RY, Stiles MA, Sherry DM, Agbaga MP, Ahmad M.
J Neurosci. 2023 Aug 16;43(33):5963-5974. doi: 10.1523/JNEUROSCI.0378-23.2023. Epub 2023 Jul 25.
PMID:37491316
SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders.
Ellezam B, Kaseka ML, Nguyen DK, Michaud J.
Acta Neuropathol. 2023 Aug;146(2):337-352. doi: 10.1007/s00401-023-02582-0. Epub 2023 May 15.
PMID:37184663
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