Tavasoli AR - Search Results

1

Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.

Hosseini Bereshneh A, Hosseipour S, Rasoulinezhad MS, Pak N, Garshasbi M, Tavasoli AR. Hosseini Bereshneh A, et al. Among authors: tavasoli ar. Eur J Med Genet. 2020 May;63(5):103868. doi: 10.1016/j.ejmg.2020.103868. Epub 2020 Jan 28. Eur J Med Genet. 2020. PMID: 32004679

2

The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy.

Mansouri V, Heidari M, Bemanalizadeh M, Azizimalamiri R, Nafissi S, Akbari MG, Barzegar M, Moayedi AR, Badv RS, Mohamadi M, Tavasoli AR, Amirsalari S, Khajeh A, Inaloo S, Fatehi F, Hosseinpour S, Babaei M, Hosseini SA, Mahdi Hosseiny SM, Fayyazi A, Hosseini F, Toosi MB, Khosroshahi N, Ghabeli H, Biglari HN, Kakhki SK, Mirlohi SH, Bidabadi E, Mohammadi B, Omrani A, Sedighi M, Vafaee-Shahi M, Rasulinezhad M, Hoseini SM, Movahedinia M, Rezaei Z, Karimi P, Farshadmoghadam H, Anvari S, Yaghini O, Nasiri J, Zamani G, Ashrafi MR. Mansouri V, et al. Among authors: tavasoli ar. J Neuromuscul Dis. 2023;10(2):211-225. doi: 10.3233/JND-221614. J Neuromuscul Dis. 2023. PMID: 36776076 Free article.

3

Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.

Kameli R, Ashrafi MR, Ehya F, Alizadeh H, Hosseinpour S, Garshasbi M, Tavasoli AR. Kameli R, et al. Among authors: tavasoli ar. Eur J Med Genet. 2020 Jan;63(1):103629. doi: 10.1016/j.ejmg.2019.02.002. Epub 2019 Feb 13. Eur J Med Genet. 2020. PMID: 30769224

4

Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.

Rostami P, Hosseinpour S, Ashrafi MR, Alizadeh H, Garshasbi M, Tavasoli AR. Rostami P, et al. Among authors: tavasoli ar. Acta Neurol Belg. 2020 Jun;120(3):511-516. doi: 10.1007/s13760-019-01168-6. Epub 2019 Jun 20. Acta Neurol Belg. 2020. PMID: 31222513 Review.

5

RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant.

Kameli R, Amanat M, Rezaei Z, Hosseionpour S, Nikbakht S, Alizadeh H, Ashrafi MR, Omrani A, Garshasbi M, Tavasoli AR. Kameli R, et al. Among authors: tavasoli ar. Orphanet J Rare Dis. 2019 Jul 26;14(1):184. doi: 10.1186/s13023-019-1155-9. Orphanet J Rare Dis. 2019. PMID: 31349848 Free PMC article.

6

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Among authors: tavasoli ar. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.

7

A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.

Binaafar S, Razmara E, Mahdieh N, Sahebjame H, Tavasoli AR, Garshasbi M. Binaafar S, et al. Among authors: tavasoli ar. Eur J Med Genet. 2020 May;63(5):103853. doi: 10.1016/j.ejmg.2020.103853. Epub 2020 Jan 21. Eur J Med Genet. 2020. PMID: 31978613

8

Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family.

Heidari E, Razmara E, Hosseinpour S, Tavasoli AR, Garshasbi M. Heidari E, et al. Among authors: tavasoli ar. Ann Hum Genet. 2020 Jul;84(4):315-323. doi: 10.1111/ahg.12378. Epub 2020 Feb 20. Ann Hum Genet. 2020. PMID: 32077500

9

The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations.

Zamani G, Hosseini Bereshneh A, Azizi Malamiri R, Bagheri S, Moradi K, Ashrafi MR, Tavasoli AR, Mohammadi M, Badv RS, Ghahvechi Akbari M, Heidari M. Zamani G, et al. Among authors: tavasoli ar. J Mol Neurosci. 2020 Oct;70(10):1565-1573. doi: 10.1007/s12031-020-01594-9. Epub 2020 May 21. J Mol Neurosci. 2020. PMID: 32436198

10

Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability.

Heidari E, Caddeo A, Zarabadi K, Masoudi M, Tavasoli AR, Romeo S, Garshasbi M. Heidari E, et al. Among authors: tavasoli ar. Genomics. 2020 Nov;112(6):4072-4077. doi: 10.1016/j.ygeno.2020.07.008. Epub 2020 Jul 6. Genomics. 2020. PMID: 32645526 Free article.

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