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Items: 1 to 20 of 304

1.

Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G-->C mutation.

Xie S, Xiao JX, Qi ZY, Yang YL, Jiang XX.

Clin Imaging. 2009 Jan-Feb;33(1):1-6. doi: 10.1016/j.clinimag.2008.08.001.

PMID:
19135921
2.

Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome.

Zhang Y, Yang YL, Sun F, Cai X, Qian N, Yuan Y, Wang ZX, Qi Y, Xiao JX, Wang XY, Zhang YH, Jiang YW, Qin J, Wu XR.

J Inherit Metab Dis. 2007 Apr;30(2):265. Epub 2007 Feb 24.

PMID:
17323145
3.

Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.

Yang YL, Sun F, Zhang Y, Qian N, Yuan Y, Wang ZX, Qi Y, Xiao JX, Wang XY, Qi ZY, Zhang YH, Jiang YW, Bao XH, Qin J, Wu XR.

Chin Med J (Engl). 2006 Mar 5;119(5):373-7.

PMID:
16542579
4.

Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome.

Salviati L, Freehauf C, Sacconi S, DiMauro S, Thoma J, Tsai AC.

Am J Med Genet A. 2004 Jul 15;128A(2):195-8.

PMID:
15214016
5.

MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.

Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M, Savoiardo M.

AJNR Am J Neuroradiol. 2002 Aug;23(7):1095-100.

6.

Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.

Rossi A, Biancheri R, Bruno C, Di Rocco M, Calvi A, Pessagno A, Tortori-Donati P.

AJNR Am J Neuroradiol. 2003 Jun-Jul;24(6):1188-91.

7.

SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.

Moslemi AR, Tulinius M, Darin N, Aman P, Holme E, Oldfors A.

Neurology. 2003 Oct 14;61(7):991-3.

PMID:
14557577
8.

[Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics].

Tsygankova PG, Mikhaĭlova SV, Zakharova EIu, Pichkur NA, Il'ina ES, Nikolaeva EA, Rudenskaia GE, Dadali EL, Kolpakchi LM, Fedoniuk ID, Matiushchenko GN.

Zh Nevrol Psikhiatr Im S S Korsakova. 2010;110(1):25-32. Russian.

PMID:
20436434
9.

Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations.

Sonam K, Khan NA, Bindu PS, Taly AB, Gayathri N, Bharath MM, Govindaraju C, Arvinda HR, Nagappa M, Sinha S, Thangaraj K.

Brain Dev. 2014 Oct;36(9):807-12. doi: 10.1016/j.braindev.2013.10.012. Epub 2013 Nov 18.

PMID:
24262866
10.

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

Piekutowska-Abramczuk D, Popowska E, Pronicki M, Karczmarewicz E, Tylek-Lemanska D, Sykut-Cegielska J, Szymanska-Dembinska T, Bielecka L, Krajewska-Walasek M, Pronicka E.

Eur J Paediatr Neurol. 2009 Mar;13(2):146-53. doi: 10.1016/j.ejpn.2008.03.009. Epub 2008 Jun 26.

PMID:
18583168
11.

Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders.

Diogo L, Cordeiro M, Garcia P, Fineza I, Moura C, Oliveira CR, Veiga M, Garcia T, Grazina M.

Pediatr Neurol. 2010 Mar;42(3):196-200. doi: 10.1016/j.pediatrneurol.2009.09.010.

PMID:
20159429
12.

Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency.

Yüksel A, Seven M, Cetincelik U, Yeşil G, Köksal V.

Pediatr Neurol. 2006 Jun;34(6):486-9.

PMID:
16765830
13.

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.

Bruno C, Biancheri R, Garavaglia B, Biedi C, Rossi A, Lamba LD, Bado M, Greco M, Zeviani M, Minetti C.

J Child Neurol. 2002 Mar;17(3):233-6.

PMID:
12026244
14.

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease.

Pronicki M, Matyja E, Piekutowska-Abramczuk D, Szymanska-Debinska T, Karkucinska-Wieckowska A, Karczmarewicz E, Grajkowska W, Kmiec T, Popowska E, Sykut-Cegielska J.

J Clin Pathol. 2008 Apr;61(4):460-6. Epub 2007 Oct 1.

15.

SURF1 missense mutations promote a mild Leigh phenotype.

Piekutowska-Abramczuk D, Magner M, Popowska E, Pronicki M, Karczmarewicz E, Sykut-Cegielska J, Kmiec T, Jurkiewicz E, Szymanska-Debinska T, Bielecka L, Krajewska-Walasek M, Vesela K, Zeman J, Pronicka E.

Clin Genet. 2009 Aug;76(2):195-204. doi: 10.1111/j.1399-0004.2009.01195.x.

PMID:
19780766
16.

SURF1-associated Leigh syndrome: a case series and novel mutations.

Lee IC, El-Hattab AW, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ.

Hum Mutat. 2012 Aug;33(8):1192-200. doi: 10.1002/humu.22095. Epub 2012 Apr 30.

PMID:
22488715
17.

[A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome].

Capková M, Hansíková H, Godinot C, Houst'ková H, Houstĕk J, Zeman J.

Cas Lek Cesk. 2002 Oct 11;141(20):636-41. Czech.

PMID:
12515039
18.

Leigh syndrome: serial MR imaging and clinical follow-up.

Arii J, Tanabe Y.

AJNR Am J Neuroradiol. 2000 Sep;21(8):1502-9.

19.

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

Tanigawa J, Kaneko K, Honda M, Harashima H, Murayama K, Wada T, Takano K, Iai M, Yamashita S, Shimbo H, Aida N, Ohtake A, Osaka H.

Brain Dev. 2012 Nov;34(10):861-5. doi: 10.1016/j.braindev.2012.02.007. Epub 2012 Mar 10.

PMID:
22410471
20.

New splicing-site mutations in the SURF1 gene in Leigh syndrome patients.

Pequignot MO, Desguerre I, Dey R, Tartari M, Zeviani M, Agostino A, Benelli C, Fouque F, Prip-Buus C, Marchant D, Abitbol M, Marsac C.

J Biol Chem. 2001 May 4;276(18):15326-9. Epub 2001 Feb 6.

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