Tajsharghi H - Search Results

1

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Chatron N, Becker F, Morsy H, Schmidts M, Hardies K, Tuysuz B, Roselli S, Najafi M, Alkaya DU, Ashrafzadeh F, Nabil A, Omar T, Maroofian R, Karimiani EG, Hussien H, Kok F, Ramos L, Gunes N, Bilguvar K, Labalme A, Alix E, Sanlaville D, de Bellescize J, Poulat AL; EuroEpinomics-RES consortium AR working group; Moslemi AR, Lerche H, May P, Lesca G, Weckhuysen S, Tajsharghi H. Chatron N, et al. Among authors: tajsharghi h. Brain. 2020 May 1;143(5):1447-1461. doi: 10.1093/brain/awaa085. Brain. 2020. PMID: 32282878 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

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

Tajsharghi H, Hilton-Jones D, Raheem O, Saukkonen AM, Oldfors A, Udd B. Tajsharghi H, et al. Brain. 2010 May;133(Pt 5):1451-9. doi: 10.1093/brain/awq083. Brain. 2010. PMID: 20418530

4

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.

Ohlsson M, Hedberg C, Brådvik B, Lindberg C, Tajsharghi H, Danielsson O, Melberg A, Udd B, Martinsson T, Oldfors A. Ohlsson M, et al. Among authors: tajsharghi h. Brain. 2012 Jun;135(Pt 6):1682-94. doi: 10.1093/brain/aws103. Epub 2012 May 9. Brain. 2012. PMID: 22577218

5

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.

6

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.

7

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.

8

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.

9

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Kariminejad A, Dahl-Halvarsson M, Ravenscroft G, Afroozan F, Keshavarz E, Goullée H, Davis MR, Faraji Zonooz M, Najmabadi H, Laing NG, Tajsharghi H. Kariminejad A, et al. Among authors: tajsharghi h. Brain. 2017 Nov 1;140(11):2851-2859. doi: 10.1093/brain/awx230. Brain. 2017. PMID: 29053766

10

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.

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