Khani M - Search Results

1

Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations.

Sabeghi D, InanlooRahatloo K, Mirzadeh HS, Khani M, Shamshiri H, Taghavi T, Alavi A, Boostani R, Tonekaboni SH, Akhondian J, Ebrahimi M, Salehi N, Nafissi S, Elahi E. Sabeghi D, et al. Among authors: khani m. Acta Neurol Belg. 2024 Aug;124(4):1363-1370. doi: 10.1007/s13760-024-02598-7. Epub 2024 Jul 4. Acta Neurol Belg. 2024. PMID: 38965176

2

An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report.

Alavi A, Khani M, Nafissi S, Shamshiri H, Elahi E. Alavi A, et al. Among authors: khani m. Iran J Basic Med Sci. 2014 Oct;17(10):735-9. Iran J Basic Med Sci. 2014. PMID: 25729540 Free PMC article.

3

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. Iran J Neurol. 2015 Jul 6;14(3):152-7. Iran J Neurol. 2015. PMID: 26622980 Free PMC article.

4

Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations.

Khani M, Shamshiri H, Alavi A, Nafissi S, Elahi E. Khani M, et al. J Neurol Sci. 2016 Oct 15;369:318-323. doi: 10.1016/j.jns.2016.08.035. Epub 2016 Aug 17. J Neurol Sci. 2016. PMID: 27653917

5

Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients.

Khani M, Alavi A, Shamshiri H, Zamani B, Hassanpour H, Kazemi MH, Nafissi S, Elahi E. Khani M, et al. Neurobiol Aging. 2019 Mar;75:225.e9-225.e14. doi: 10.1016/j.neurobiolaging.2018.11.003. Epub 2018 Nov 16. Neurobiol Aging. 2019. PMID: 30553531

6

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. 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

7

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. J Neurol. 2021 Feb;268(2):640-650. doi: 10.1007/s00415-020-10171-4. Epub 2020 Sep 8. J Neurol. 2021. PMID: 32897397

8

BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes.

Khani M, Shamshiri H, Taheri H, Hardy J, Bras JT, Carmona S, Moazzeni H, Alavi A, Heshmati A, Taghizadeh P, Nilipour Y, Ghazanfari T, Shahabi M, Okhovat AA, Rohani M, Valle G, Boostani R, Abdi S, Eshghi S, Nafissi S, Elahi E. Khani M, et al. Neurobiol Aging. 2021 Mar;99:102.e1-102.e10. doi: 10.1016/j.neurobiolaging.2020.09.021. Epub 2020 Oct 5. Neurobiol Aging. 2021. PMID: 33189404

9

A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome.

Khani M, Shamshiri H, Moazzeni H, Taheri H, Ahmadieh H, Alavi A, Farboodi N, Nafissi S, Elahi E. Khani M, et al. Neuromuscul Disord. 2021 Jun;31(6):528-531. doi: 10.1016/j.nmd.2021.03.003. Epub 2021 Mar 8. Neuromuscul Disord. 2021. PMID: 33824075

10

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. Eur J Neurol. 2022 Dec;29(12):3556-3563. doi: 10.1111/ene.15528. Epub 2022 Sep 13. Eur J Neurol. 2022. PMID: 35996994

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