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Items: 1 to 20 of 119

1.

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.

Cheldi A, Ronchi D, Bordoni A, Bordo B, Lanfranconi S, Bellotti MG, Corti S, Lucchini V, Sciacco M, Moggio M, Baron P, Comi GP, Colombo A, Bersano A; Lombardia GENS collaborators.

BMC Neurol. 2013 Jan 15;13:8. doi: 10.1186/1471-2377-13-8.

2.

[Clinical, pathological and molecular biological characteristics of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode in children].

Liu XL, Bao XH, Ma YN, Chang XZ, Qin J, Wu XR.

Zhonghua Er Ke Za Zhi. 2013 Feb;51(2):130-5. Chinese.

PMID:
23527980
3.

An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype.

Kanaumi T, Hirose S, Goto Y, Naitou E, Mitsudome A.

Pediatr Neurol. 2006 Mar;34(3):235-8.

PMID:
16504796
4.

Clinical, pathologic and genetic studies on mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.

Guo Y, Guo Z, Chen L, Zhang J, Wang W, Liu X, Ren H, Gao S.

Chin Med J (Engl). 1997 Nov;110(11):851-5.

PMID:
9772417
5.

A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.

Tanji K, Kaufmann P, Naini AB, Lu J, Parsons TC, Wang D, Willey JZ, Shanske S, Hirano M, Bonilla E, Khandji A, Dimauro S, Rowland LP.

J Neurol Sci. 2008 Jul 15;270(1-2):23-7. doi: 10.1016/j.jns.2008.01.016. Epub 2008 Mar 7.

PMID:
18314141
6.

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.

J Neuropathol Exp Neurol. 2006 Aug;65(8):758-68.

7.

Phenotypic and genotypic variability in Alpers syndrome.

Sofou K, Moslemi AR, Kollberg G, Bjarnadóttir I, Oldfors A, Nennesmo I, Holme E, Tulinius M, Darin N.

Eur J Paediatr Neurol. 2012 Jul;16(4):379-89. doi: 10.1016/j.ejpn.2011.12.006. Epub 2012 Jan 10.

PMID:
22237560
8.

Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation.

Sakuta R, Honzawa S, Murakami N, Goto Y, Nagai T.

Pediatr Neurol. 2002 Nov;27(5):397-400.

PMID:
12504210
9.

Screening for MELAS mutations in young patients with stroke of undetermined origin.

Conforto AB, Yamamoto FI, Oba-Shinjo SM, Pinto JG, Hoshino M, Scaff M, Marie SK.

Arq Neuropsiquiatr. 2007 Jun;65(2B):371-6.

10.

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.

Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R.

Arch Neurol. 2004 Feb;61(2):269-72.

PMID:
14967777
11.

The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.

Horv√°th R, Reilmann R, Holinski-Feder E, Ringelstein EB, Klopstock T.

Neuromuscul Disord. 2008 Jul;18(7):553-6. doi: 10.1016/j.nmd.2008.05.002. Epub 2008 Jun 30.

PMID:
18590963
12.

Polymerase gamma 1 mutations: clinical correlations.

Milone M, Massie R.

Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89. Review.

PMID:
20220442
13.

Single muscle fiber analysis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Tokunaga M, Mita S, Murakami T, Kumamoto T, Uchino M, Nonaka I, Ando M.

Ann Neurol. 1994 Apr;35(4):413-9.

PMID:
8154867
14.

MELAS/SANDO overlap syndrome associated with POLG1 mutations.

Hansen N, Zwarg T, Wanke I, Zierz S, Kastrup O, Deschauer M.

Neurol Sci. 2012 Feb;33(1):209-12. doi: 10.1007/s10072-011-0631-3. Epub 2011 Jun 7. No abstract available.

PMID:
21647632
15.

MELAS associated with mutations in the POLG1 gene.

Deschauer M, Tennant S, Rokicka A, He L, Kraya T, Turnbull DM, Zierz S, Taylor RW.

Neurology. 2007 May 15;68(20):1741-2. No abstract available.

PMID:
17502560
16.
17.

MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions.

Aharoni S, Traves TA, Melamed E, Cohen S, Silver EL.

J Neurol Sci. 2010 Sep 15;296(1-2):101-3. doi: 10.1016/j.jns.2010.06.029. Epub 2010 Jul 22.

PMID:
20655066
18.

Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.

Zhao D, Hong D, Zhang W, Yao S, Qi X, Lv H, Zheng R, Feng L, Huang Y, Yuan Y, Wang Z.

J Hum Genet. 2011 Nov;56(11):759-64. doi: 10.1038/jhg.2011.96. Epub 2011 Aug 18.

PMID:
21850008
19.
20.

Melas associated with mutations in the polg1 gene.

Tzoulis C, Bindoff LA.

Neurology. 2008 Mar 25;70(13):1054; author reply 1054-5. doi: 10.1212/01.wnl.0000307661.98694.c3. No abstract available.

PMID:
18362288
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