Elahi E - Search Results

1

The frequency of spinocerebellar ataxia type 23 in a UK population.

Fawcett K, Mehrabian M, Liu YT, Hamed S, Elahi E, Revesz T, Koutsis G, Herscheson J, Schottlaender L, Wardle M, Morrison PJ, Morris HR, Giunti P, Wood N, Houlden H. Fawcett K, et al. Among authors: elahi e. J Neurol. 2013 Mar;260(3):856-9. doi: 10.1007/s00415-012-6721-1. Epub 2012 Oct 30. J Neurol. 2013. PMID: 23108490

2

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.

Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, Houlden H. Paisán-Ruiz C, et al. Among authors: elahi e. Mov Disord. 2010 Sep 15;25(12):1791-800. doi: 10.1002/mds.23221. Mov Disord. 2010. PMID: 20669327 Free PMC article.

3

Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation.

Khani M, Taheri H, Shamshiri H, Houlden H, Efthymiou S, Alavi A, Nafissi S, Elahi E. Khani M, et al. Among authors: elahi e. Am J Med Genet A. 2019 Aug;179(8):1507-1515. doi: 10.1002/ajmg.a.61184. Epub 2019 May 20. Am J Med Genet A. 2019. PMID: 31111683

4

Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.

Khani M, Taheri H, Shamshiri H, Moazzeni H, Hardy J, Bras JT, InanlooRahatloo K, Alavi A, Nafissi S, Elahi E. Khani M, et al. Among authors: elahi e. J Neurol. 2021 Feb;268(2):640-650. doi: 10.1007/s00415-020-10171-4. Epub 2020 Sep 8. J Neurol. 2021. PMID: 32897397

5

Observation of c.260A > G mutation in superoxide dismutase 1 that causes p.Asn86Ser in Iranian amyotrophic lateral sclerosis patient and absence of genotype/phenotype correlation.

Khani M, Alavi A, Nafissi S, Elahi E. Khani M, et al. Among authors: elahi e. Iran J Neurol. 2015 Jul 6;14(3):152-7. Iran J Neurol. 2015. PMID: 26622980 Free PMC article.

6

Effect of PITX2 knockdown on transcriptome of primary human trabecular meshwork cell cultures.

Paylakhi SH, Fan JB, Mehrabian M, Sadeghizadeh M, Yazdani S, Katanforoush A, Kanavi MR, Ronaghi M, Elahi E. Paylakhi SH, et al. Among authors: elahi e. Mol Vis. 2011;17:1209-21. Epub 2011 May 5. Mol Vis. 2011. PMID: 21617755 Free PMC article.

7

Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy.

Khani M, Nafissi S, Shamshiri H, Moazzeni H, Taheri H, Sadeghi M, Salehi N, Chitsazian F, Elahi E. Khani M, et al. Among authors: elahi e. Eur J Neurol. 2022 Dec;29(12):3556-3563. doi: 10.1111/ene.15528. Epub 2022 Sep 13. Eur J Neurol. 2022. PMID: 35996994

8

Insights into the regulatory molecules involved in glaucoma pathogenesis.

Moazzeni H, Khani M, Elahi E. Moazzeni H, et al. Among authors: elahi e. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):782-827. doi: 10.1002/ajmg.c.31833. Epub 2020 Sep 16. Am J Med Genet C Semin Med Genet. 2020. PMID: 32935930 Review.

9

Pantothenate kinase 2 mutation with eye-of-the-tiger sign on magnetic resonance imaging in three siblings.

Dezfouli MA, Jaberi E, Alavi A, Rezvani M, Shahidi G, Elahi E, Rohani M. Dezfouli MA, et al. Among authors: elahi e. Iran J Neurol. 2012;11(4):155-8. Iran J Neurol. 2012. PMID: 24250886 Free PMC article.

10

Evolution of SARS-CoV-2 genome from December 2019 to late March 2020: Emerged haplotypes and informative Tag nucleotide variations.

Safari I, InanlooRahatloo K, Elahi E. Safari I, et al. Among authors: elahi e. J Med Virol. 2021 Apr;93(4):2010-2020. doi: 10.1002/jmv.26553. Epub 2020 Nov 1. J Med Virol. 2021. PMID: 32975856 Free PMC article.

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