Similar articles for PMID: 22189570

Year	Number of Results
1986	2
2000	3
2001	1
2002	1
2003	5
2004	5
2005	4
2006	10
2008	6
2009	9
2010	8
2011	9
2012	13
2013	6
2014	8
2015	5
2016	3
2017	3
2019	3
2020	1
2021	1
2023	1
2024	0

1

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

Lax NZ, Whittaker RG, Hepplewhite PD, Reeve AK, Blakely EL, Jaros E, Ince PG, Taylor RW, Fawcett PR, Turnbull DM. Lax NZ, et al. Brain. 2012 Jan;135(Pt 1):62-71. doi: 10.1093/brain/awr326. Epub 2011 Dec 20. Brain. 2012. PMID: 22189570 Free PMC article.

2

Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.

Dong HL, Ma Y, Yu H, Wei Q, Li JQ, Liu GL, Li HF, Chen L, Chen DF, Bai G, Wu ZY. Dong HL, et al. Brain. 2021 Sep 4;144(8):2457-2470. doi: 10.1093/brain/awab135. Brain. 2021. PMID: 33751098

3

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations.

Tzoulis C, Tran GT, Schwarzlmüller T, Specht K, Haugarvoll K, Balafkan N, Lilleng PK, Miletic H, Biermann M, Bindoff LA. Tzoulis C, et al. Brain. 2013 Aug;136(Pt 8):2393-404. doi: 10.1093/brain/awt103. Epub 2013 Apr 26. Brain. 2013. PMID: 23625061

4

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

González-Vioque E, Blázquez A, Fernández-Moreira D, Bornstein B, Bautista J, Arpa J, Navarro C, Campos Y, Fernández-Moreno MA, Garesse R, Arenas J, Martín MA. González-Vioque E, et al. Arch Neurol. 2006 Jan;63(1):107-11. doi: 10.1001/archneur.63.1.107. Arch Neurol. 2006. PMID: 16401742

5

Microangiopathy in the cerebellum of patients with mitochondrial DNA disease.

Lax NZ, Pienaar IS, Reeve AK, Hepplewhite PD, Jaros E, Taylor RW, Kalaria RN, Turnbull DM. Lax NZ, et al. Brain. 2012 Jun;135(Pt 6):1736-50. doi: 10.1093/brain/aws110. Epub 2012 May 9. Brain. 2012. PMID: 22577219 Free PMC article.

6

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.

Kaliszewska M, Kruszewski J, Kierdaszuk B, Kostera-Pruszczyk A, Nojszewska M, Łusakowska A, Vizueta J, Sabat D, Lutyk D, Lower M, Piekutowska-Abramczuk D, Kaniak-Golik A, Pronicka E, Kamińska A, Bartnik E, Golik P, Tońska K. Kaliszewska M, et al. Hum Genet. 2015 Sep;134(9):951-66. doi: 10.1007/s00439-015-1578-x. Epub 2015 Jun 16. Hum Genet. 2015. PMID: 26077851 Free PMC article.

7

The impact of pathogenic mitochondrial DNA mutations on substantia nigra neurons.

Reeve A, Meagher M, Lax N, Simcox E, Hepplewhite P, Jaros E, Turnbull D. Reeve A, et al. J Neurosci. 2013 Jun 26;33(26):10790-801. doi: 10.1523/JNEUROSCI.3525-12.2013. J Neurosci. 2013. PMID: 23804100 Free PMC article.

8

Mitochondrial DNA polymerase-gamma and human disease.

Hudson G, Chinnery PF. Hudson G, et al. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R244-52. doi: 10.1093/hmg/ddl233. Hum Mol Genet. 2006. PMID: 16987890 Review.

9

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.

Tchikviladzé M, Gilleron M, Maisonobe T, Galanaud D, Laforêt P, Durr A, Eymard B, Mochel F, Ogier H, Béhin A, Stojkovic T, Degos B, Gourfinkel-An I, Sedel F, Anheim M, Elbaz A, Viala K, Vidailhet M, Brice A, Jardel C, Lombès A. Tchikviladzé M, et al. J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):646-54. doi: 10.1136/jnnp-2013-306799. Epub 2014 Aug 11. J Neurol Neurosurg Psychiatry. 2015. PMID: 25118206

10

mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.

Stumpf JD, Bailey CM, Spell D, Stillwagon M, Anderson KS, Copeland WC. Stumpf JD, et al. Hum Mol Genet. 2010 Jun 1;19(11):2123-33. doi: 10.1093/hmg/ddq089. Epub 2010 Feb 25. Hum Mol Genet. 2010. PMID: 20185557 Free PMC article.

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