Shakiba M - Search Results

1

Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage.

Khodaeian M, Bitarafan F, Garrousi F, Sardehie EA, Pak N, Hosseinpour S, Shakiba M, Falah M, Garshasbi M, Tavasoli AR. Khodaeian M, et al. Among authors: shakiba m. J Clin Lab Anal. 2023 Nov;37(21-22):e24983. doi: 10.1002/jcla.24983. Epub 2023 Nov 10. J Clin Lab Anal. 2023. PMID: 37950505 Free PMC article.

2

Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders.

Shakiba M, Keramatipour M. Shakiba M, et al. Iran J Child Neurol. 2018 Winter;12(1):7-15. Iran J Child Neurol. 2018. PMID: 29379558 Free PMC article. Review.

3

Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).

Eghbali M, Abiri M, Talebi S, Noroozi Z, Shakiba M, Rostami P, Alimadadi H, Najafi M, Yazarlou F, Rabbani A, Modarressi MH. Eghbali M, et al. Among authors: shakiba m. Orphanet J Rare Dis. 2020 Jan 31;15(1):35. doi: 10.1186/s13023-019-1266-3. Orphanet J Rare Dis. 2020. PMID: 32005221 Free PMC article.

4

A Rare Case of Glycogen Storage Disease Type 1a Presenting with Hemophagocytic Lymphohistiocytosis (HLH).

Saneifard H, Shamsian B, Shakiba M, Karizi Zarea S, Sheikhy A. Saneifard H, et al. Among authors: shakiba m. Case Rep Pediatr. 2020 Nov 11;2020:8818617. doi: 10.1155/2020/8818617. eCollection 2020. Case Rep Pediatr. 2020. PMID: 33224545 Free PMC article.

5

A Novel Mutation in PEX11β Gene.

Malekzadeh H, Shakiba M, Yasaei M. Malekzadeh H, et al. Among authors: shakiba m. Iran J Child Neurol. 2021 Winter;15(1):93-100. doi: 10.22037/ijcn.v15i1.26129. Iran J Child Neurol. 2021. PMID: 33558817 Free PMC article.

6

Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series.

Saneifard H, Shakiba M, Alaei M, Mosallanejad A, Ghanefard S, Yasaei M, Toudeshki KK. Saneifard H, et al. Among authors: shakiba m. Mol Genet Metab Rep. 2024 Jul 30;40:101124. doi: 10.1016/j.ymgmr.2024.101124. eCollection 2024 Sep. Mol Genet Metab Rep. 2024. PMID: 39185019 Free PMC article.

7

Utility of Seizure Pattern and Related Clinical Features in the Diagnosis of Neurometabolic Disorders.

Jafari N, Mosallanejad A, Ghobadifar A, Karimzadeh P, Ghassemabadi RG, Nasehi M, Shakiba M, Tabatabaee S. Jafari N, et al. Among authors: shakiba m. Iran J Child Neurol. 2020 Winter;14(1):123-132. Iran J Child Neurol. 2020. PMID: 32021636 Free PMC article.

8

Clinical and Paraclinical Characteristics of Non-Classic Phenylketonuria.

Shakiba M, Saneifard H, Alaei MR, Mosallanejad A, Lotfi M, Yasaei M, Alizade Naderi E. Shakiba M, et al. Iran J Child Neurol. 2021 Summer;15(3):131-138. doi: 10.22037/ijcn.v15i3.30519. Iran J Child Neurol. 2021. PMID: 34282370 Free PMC article.

9

A novel gene mutation for multicentric osteolysis nodulosis and arthropathy: Case report and review of literature.

Shakiba M, Alaei F. Shakiba M, et al. Heliyon. 2023 Mar 24;9(4):e14865. doi: 10.1016/j.heliyon.2023.e14865. eCollection 2023 Apr. Heliyon. 2023. PMID: 37025869 Free PMC article.

10

Defects in Very Long-Chain Fatty Acid Oxidation Presenting as Different Types of Cardiomyopathy.

Alaei F, Shakiba M, Saneifard H, Vahidshahi K, Alaei M. Alaei F, et al. Among authors: shakiba m. Case Rep Cardiol. 2022 Apr 28;2022:5529355. doi: 10.1155/2022/5529355. eCollection 2022. Case Rep Cardiol. 2022. PMID: 35531352 Free PMC article.

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