Similar articles for PMID: 19138848

Year	Number of Results
1990	4
1991	1
1995	1
1996	1
1997	1
1999	3
2000	2
2001	6
2003	6
2004	1
2005	13
2006	14
2007	32
2008	46
2009	51
2010	11
2011	11
2012	6
2013	7
2014	5
2015	8
2016	10
2017	11
2018	7
2019	6
2020	4
2022	3
2023	2
2024	0

1

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. 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

2

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chrétien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rötig A. Bourdon A, et al. Nat Genet. 2007 Jun;39(6):776-80. doi: 10.1038/ng2040. Epub 2007 May 7. Nat Genet. 2007. PMID: 17486094

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. 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 new missense mutation in caveolin-3 gene causes rippling muscle disease.

Dotti MT, Malandrini A, Gambelli S, Salvadori C, De Stefano N, Federico A. Dotti MT, et al. J Neurol Sci. 2006 Apr 15;243(1-2):61-4. doi: 10.1016/j.jns.2005.11.032. Epub 2006 Feb 3. J Neurol Sci. 2006. PMID: 16458928

5

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.

Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A. Götz A, et al. Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub 2008 Sep 26. Brain. 2008. PMID: 18819985

6

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.

Bornstein B, Area E, Flanigan KM, Ganesh J, Jayakar P, Swoboda KJ, Coku J, Naini A, Shanske S, Tanji K, Hirano M, DiMauro S. Bornstein B, et al. Neuromuscul Disord. 2008 Jun;18(6):453-9. doi: 10.1016/j.nmd.2008.04.006. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18504129 Free PMC article.

7

Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study.

Stojanovic V, Mayr JA, Sperl W, Barišić N, Doronjski A, Milak G. Stojanovic V, et al. Croat Med J. 2013 Dec;54(6):579-84. doi: 10.3325/cmj.2013.54.579. Croat Med J. 2013. PMID: 24382854 Free PMC article.

8

Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.

Blázquez A, Gil-Borlado MC, Morán M, Verdú A, Cazorla-Calleja MR, Martín MA, Arenas J, Ugalde C. Blázquez A, et al. Neuromuscul Disord. 2009 Feb;19(2):143-6. doi: 10.1016/j.nmd.2008.11.016. Epub 2009 Jan 21. Neuromuscul Disord. 2009. PMID: 19162478

9

Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.

Okhuijsen-Kroes EJ, Trijbels JM, Sengers RC, Mariman E, van den Heuvel LP, Wendel U, Koch G, Smeitink JA. Okhuijsen-Kroes EJ, et al. Neuropediatrics. 2001 Aug;32(4):183-90. doi: 10.1055/s-2001-17372. Neuropediatrics. 2001. PMID: 11571698 Review.

10

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.

Mancuso M, Filosto M, Tsujino S, Lamperti C, Shanske S, Coquet M, Desnuelle C, DiMauro S. Mancuso M, et al. Arch Neurol. 2003 Oct;60(10):1445-7. doi: 10.1001/archneur.60.10.1445. Arch Neurol. 2003. PMID: 14568816

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