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Items: 1 to 20 of 128

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.

PMID:
16896309
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.

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
9.

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
10.

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
11.

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
12.

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
13.

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
14.

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
15.

High cytochrome c oxidase expression links to severe skeletal energy failure by (31)P-MRS spectroscopy in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.

Liu AH, Niu FN, Chang LL, Zhang B, Liu Z, Chen JY, Zhou Q, Wu HY, Xu Y.

CNS Neurosci Ther. 2014 Jun;20(6):509-14. doi: 10.1111/cns.12257. Epub 2014 Mar 27.

PMID:
24674659
16.

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
17.

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.

18.
19.

When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?

Lorenzoni PJ, Werneck LC, Kay CS, Silvado CE, Scola RH.

Arq Neuropsiquiatr. 2015 Nov;73(11):959-67. doi: 10.1590/0004-282X20150154. Review.

20.

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

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