Moslemi AR - Search Results

1

Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.

Tulinius M, Moslemi AR, Darin N, Holme E, Oldfors A. Tulinius M, et al. Among authors: moslemi ar. Neuromuscul Disord. 2005 Jun;15(6):412-5. doi: 10.1016/j.nmd.2005.03.010. Neuromuscul Disord. 2005. PMID: 15907288

2

Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I.

Kollberg G, Moslemi AR, Lindberg C, Holme E, Oldfors A. Kollberg G, et al. Among authors: moslemi ar. J Neuropathol Exp Neurol. 2005 Feb;64(2):123-8. doi: 10.1093/jnen/64.2.123. J Neuropathol Exp Neurol. 2005. PMID: 15751226

3

POLG1 mutations associated with progressive encephalopathy in childhood.

Kollberg G, Moslemi AR, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A. Kollberg G, et al. Among authors: moslemi ar. J Neuropathol Exp Neurol. 2006 Aug;65(8):758-68. doi: 10.1097/01.jnen.0000229987.17548.6e. J Neuropathol Exp Neurol. 2006. PMID: 16896309

4

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.

Kollberg G, Darin N, Benan K, Moslemi AR, Lindal S, Tulinius M, Oldfors A, Holme E. Kollberg G, et al. Among authors: moslemi ar. Neuromuscul Disord. 2009 Feb;19(2):147-50. doi: 10.1016/j.nmd.2008.11.014. Epub 2009 Jan 12. Neuromuscul Disord. 2009. PMID: 19138848

5

Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy.

Darin N, Siibak T, Peter B, Hedberg-Oldfors C, Kollberg G, Kalbin V, Moslemi AR, Macao B, Oldfors A, Falkenberg M. Darin N, et al. Among authors: moslemi ar. Neuromuscul Disord. 2021 Apr;31(4):348-358. doi: 10.1016/j.nmd.2021.01.004. Epub 2021 Jan 12. Neuromuscul Disord. 2021. PMID: 33579567 Free article.

6

Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres.

Moslemi AR, Tulinius M, Holme E, Oldfors A. Moslemi AR, et al. Neuromuscul Disord. 1998 Jun;8(5):345-9. doi: 10.1016/s0960-8966(98)00029-7. Neuromuscul Disord. 1998. PMID: 9673990

7

Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations.

Roos S, Lindgren U, Ehrstedt C, Moslemi AR, Oldfors A. Roos S, et al. Among authors: moslemi ar. Neuromuscul Disord. 2014 Aug;24(8):713-20. doi: 10.1016/j.nmd.2014.05.009. Epub 2014 May 29. Neuromuscul Disord. 2014. PMID: 24953930

8

Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.

Kollberg G, Jansson M, Pérez-Bercoff A, Melberg A, Lindberg C, Holme E, Moslemi AR, Oldfors A. Kollberg G, et al. Among authors: moslemi ar. Eur J Hum Genet. 2005 Apr;13(4):463-9. doi: 10.1038/sj.ejhg.5201341. Eur J Hum Genet. 2005. PMID: 15702133

9

A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.

Mayr JA, Moslemi AR, Förster H, Kamper A, Idriceanu C, Muss W, Huemer M, Oldfors A, Sperl W. Mayr JA, et al. Among authors: moslemi ar. Neuromuscul Disord. 2006 Dec;16(12):874-7. doi: 10.1016/j.nmd.2006.08.010. Epub 2006 Oct 20. Neuromuscul Disord. 2006. PMID: 17056256

10

Molecular genetic and clinical aspects of mitochondrial disorders in childhood.

Moslemi AR, Darin N. Moslemi AR, et al. Mitochondrion. 2007 Jul;7(4):241-52. doi: 10.1016/j.mito.2007.02.002. Epub 2007 Feb 14. Mitochondrion. 2007. PMID: 17376748 Review.

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