Alavi A - Search Results

1

White matter abnormalities in 15 subjects with SPG76.

Alkhalifa A, Chen S, Hasiloglu ZI, Filosto M, Cali E, Houlden H, Sgobbi de Souza P, Alavi A, Goizet C, Stevanin G, Taithe F, Nicita F, Vasco G, Tozza S, Cocozza S, Carboni N, Figus A, Wu J, Basak AN, Brais B, Rouleau G, La Piana R. Alkhalifa A, et al. Among authors: alavi a. J Neurol. 2023 Dec;270(12):5784-5792. doi: 10.1007/s00415-023-11918-5. Epub 2023 Aug 14. J Neurol. 2023. PMID: 37578488

2

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: alavi a. 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

3

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

4

Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases.

Vafaee-Shahi M, Ghasemi S, Ghahvechi-Akbar M, Tahernia L, Davarzani A, Hajati R, Zare-Abdollahi D, Alavi A. Vafaee-Shahi M, et al. Among authors: alavi a. Curr J Neurol. 2020 Oct 6;19(4):200-210. doi: 10.18502/cjn.v19i4.5548. Curr J Neurol. 2020. PMID: 38011432 Free PMC article.

5

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: alavi a. Iran J Neurol. 2012;11(4):155-8. Iran J Neurol. 2012. PMID: 24250886 Free PMC article.

6

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

7

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J. Alonso-Pérez J, et al. Among authors: alavi a. Brain. 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301. Brain. 2022. PMID: 34515763 Free PMC article.

8

A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree.

Rahmani B, Fekrmandi F, Ahadi K, Ahadi T, Alavi A, Ahmadiani A, Asadi S. Rahmani B, et al. Among authors: alavi a. BMC Neurol. 2018 Nov 29;18(1):195. doi: 10.1186/s12883-018-1201-6. BMC Neurol. 2018. PMID: 30497409 Free PMC article.

9

CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation.

Rahimi Bidgoli MM, Javanparast L, Rohani M, Najmabadi H, Zamani B, Alavi A. Rahimi Bidgoli MM, et al. Among authors: alavi a. Int J Neurosci. 2021 Oct;131(10):962-974. doi: 10.1080/00207454.2020.1763344. Epub 2020 May 13. Int J Neurosci. 2021. PMID: 32352326

10

Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.

Ghasemi A, Tavasoli AR, Khojasteh M, Rohani M, Alavi A. Ghasemi A, et al. Among authors: alavi a. Mol Syndromol. 2023 Oct;14(5):405-415. doi: 10.1159/000529678. Epub 2023 Mar 30. Mol Syndromol. 2023. PMID: 37915394 Free PMC article.

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