Sedghi M - Search Results

1

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant.

Sedghi M, Salari M, Moslemi AR, Kariminejad A, Davis M, Goullée H, Olsson B, Laing N, Tajsharghi H. Sedghi M, et al. Neurol Genet. 2018 Dec 3;4(6):e295. doi: 10.1212/NXG.0000000000000295. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30584599 Free PMC article.

2

Therapeutic Effects of Adrenocorticotropic Hormone ACTH in Children with Severely Intractable Seizure.

Nasiri J, Sarajan A, Salari M, Sedghi M. Nasiri J, et al. Among authors: sedghi m. Iran J Child Neurol. 2017 Summer;11(3):19-26. Iran J Child Neurol. 2017. PMID: 28883872 Free PMC article.

3

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction.

Lee RG, Sedghi M, Salari M, Shearwood AJ, Stentenbach M, Kariminejad A, Goullee H, Rackham O, Laing NG, Tajsharghi H, Filipovska A. Lee RG, et al. Among authors: sedghi m. Neurol Genet. 2018 Oct 5;4(5):e276. doi: 10.1212/NXG.0000000000000276. eCollection 2018 Oct. Neurol Genet. 2018. PMID: 30338296 Free PMC article.

4

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.

Sedghi M, Moslemi AR, Olive M, Etemadifar M, Ansari B, Nasiri J, Emrahi L, Mianesaz HR, Laing NG, Tajsharghi H. Sedghi M, et al. Ann Clin Transl Neurol. 2019 Nov;6(11):2197-2204. doi: 10.1002/acn3.50912. Epub 2019 Sep 27. Ann Clin Transl Neurol. 2019. PMID: 31560180 Free PMC article.

5

Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP.

Sedghi M, Moslemi AR, Cabrera-Serrano M, Ansari B, Ghasemi M, Baktashian M, Fattahpour A, Tajsharghi H. Sedghi M, et al. Brain Commun. 2019 Sep 3;1(1):fcz011. doi: 10.1093/braincomms/fcz011. eCollection 2019. Brain Commun. 2019. PMID: 32954258 Free PMC article.

6

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, Giess A, Tucci A, Beetz C, Sedghi M, Ansari B, Barresi R, Basiri K, Cortese A, Elgar G, Fernandez-Garcia MA, Yip J, Foley AR, Gutowski N, Jungbluth H, Lassche S, Lavin T, Marcelis C, Marks P, Marini-Bettolo C, Medne L, Moslemi AR, Sarkozy A, Reilly MM, Muntoni F, Millan F, Muraresku CC, Need AC, Nemeth AH, Neuhaus SB, Norwood F, O'Donnell M, O'Driscoll M, Rankin J, Yum SW, Zolkipli-Cunningham Z, Brusius I, Wunderlich G; Genomics England Research Consortium; Karakaya M, Wirth B, Fakhro KA, Tajsharghi H, Bönnemann CG, Taylor JC, Houlden H. Pagnamenta AT, et al. Among authors: sedghi m. Brain. 2021 Mar 3;144(2):584-600. doi: 10.1093/brain/awaa420. Brain. 2021. PMID: 33559681 Free PMC article.

7

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

Sekiguchi F, Nasiri J, Sedghi M, Salehi M, Hosseinzadeh M, Okamoto N, Mizuguchi T, Nakashima M, Miyatake S, Takata A, Miyake N, Matsumoto N. Sekiguchi F, et al. Among authors: sedghi m. J Hum Genet. 2018 Apr;63(4):487-491. doi: 10.1038/s10038-017-0404-9. Epub 2018 Feb 6. J Hum Genet. 2018. PMID: 29410513

8

Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.

Ganji H, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M. Ganji H, et al. Among authors: sedghi m. J Child Neurol. 2015 Apr;30(5):558-62. doi: 10.1177/0883073814521297. Epub 2014 Feb 20. J Child Neurol. 2015. PMID: 24563475

9

Association of AHSG with alopecia and mental retardation (APMR) syndrome.

Reza Sailani M, Jahanbani F, Nasiri J, Behnam M, Salehi M, Sedghi M, Hoseinzadeh M, Takahashi S, Zia A, Gruber J, Lynch JL, Lam D, Winkelmann J, Amirkiai S, Pang B, Rego S, Mazroui S, Bernstein JA, Snyder MP. Reza Sailani M, et al. Among authors: sedghi m. Hum Genet. 2017 Mar;136(3):287-296. doi: 10.1007/s00439-016-1756-5. Epub 2017 Jan 4. Hum Genet. 2017. PMID: 28054173

10

A case report of 22q11 deletion syndrome confirmed by array-CGH method.

Sedghi M, Nouri N, Abdali H, Memarzadeh M, Nouri N. Sedghi M, et al. J Res Med Sci. 2012 Mar;17(3):310-2. J Res Med Sci. 2012. PMID: 23267387 Free PMC article.

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