Tajsharghi H - Search Results

1

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. Among authors: tajsharghi h. Brain Commun. 2019 Sep 3;1(1):fcz011. doi: 10.1093/braincomms/fcz011. eCollection 2019. Brain Commun. 2019. PMID: 32954258 Free PMC article.

2

Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.

Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A. Moslemi AR, et al. Among authors: tajsharghi h. N Engl J Med. 2010 Apr 1;362(13):1203-10. doi: 10.1056/NEJMoa0900661. N Engl J Med. 2010. PMID: 20357282 Free article.

3

Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.

Abdul-Hussein S, Rahl K, Moslemi AR, Tajsharghi H. Abdul-Hussein S, et al. Among authors: tajsharghi h. PLoS One. 2013 Sep 10;8(9):e72396. doi: 10.1371/journal.pone.0072396. eCollection 2013. PLoS One. 2013. PMID: 24039757 Free PMC article.

4

Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC.

Pokrzywa M, Norum M, Lengqvist J, Ghobadpour M, Abdul-Hussein S, Moslemi AR, Tajsharghi H. Pokrzywa M, et al. Among authors: tajsharghi h. PLoS One. 2015 Nov 6;10(11):e0142094. doi: 10.1371/journal.pone.0142094. eCollection 2015. PLoS One. 2015. PMID: 26544689 Free PMC article.

5

Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.

Kariminejad A, Ghaderi-Sohi S, Hossein-Nejad Nedai H, Varasteh V, Moslemi AR, Tajsharghi H. Kariminejad A, et al. Among authors: tajsharghi h. BMC Musculoskelet Disord. 2016 Mar 1;17:109. doi: 10.1186/s12891-016-0947-5. BMC Musculoskelet Disord. 2016. PMID: 26932181 Free PMC article.

6

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

Kariminejad A, Almadani N, Khoshaeen A, Olsson B, Moslemi AR, Tajsharghi H. Kariminejad A, et al. Among authors: tajsharghi h. BMC Genet. 2016 May 31;17(1):71. doi: 10.1186/s12863-016-0382-5. BMC Genet. 2016. PMID: 27245440 Free PMC article.

7

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: tajsharghi h. Neurol Genet. 2018 Oct 5;4(5):e276. doi: 10.1212/NXG.0000000000000276. eCollection 2018 Oct. Neurol Genet. 2018. PMID: 30338296 Free PMC article.

8

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. Among authors: tajsharghi h. Neurol Genet. 2018 Dec 3;4(6):e295. doi: 10.1212/NXG.0000000000000295. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30584599 Free PMC article.

9

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. Among authors: tajsharghi h. 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.

10

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.

Kariminejad A, Szenker-Ravi E, Lekszas C, Tajsharghi H, Moslemi AR, Naert T, Tran HT, Ahangari F, Rajaei M, Nasseri M, Haaf T, Azad A, Superti-Furga A, Maroofian R, Ghaderi-Sohi S, Najmabadi H, Abbaszadegan MR, Vleminckx K, Nikuei P, Reversade B. Kariminejad A, et al. Among authors: tajsharghi h. Am J Hum Genet. 2019 Dec 5;105(6):1294-1301. doi: 10.1016/j.ajhg.2019.10.013. Epub 2019 Nov 21. Am J Hum Genet. 2019. PMID: 31761294 Free PMC article.

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