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Items: 1 to 20 of 95

1.

Respiratory chain deficiencies.

Delonlay P, Rötig A, Sarnat HB.

Handb Clin Neurol. 2013;113:1651-66. doi: 10.1016/B978-0-444-59565-2.00033-2. Review.

PMID:
23622386
2.

Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions.

Lee YM, Kang HC, Lee JS, Kim SH, Kim EY, Lee SK, Slama A, Kim HD.

Epilepsia. 2008 Apr;49(4):685-90. doi: 10.1111/j.1528-1167.2007.01522.x. Epub 2008 Feb 5.

3.

Mitochondrial syndromes with leukoencephalopathies.

Wong LJ.

Semin Neurol. 2012 Feb;32(1):55-61. doi: 10.1055/s-0032-1306387. Epub 2012 Mar 15. Review.

PMID:
22422207
4.

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.

Lebre AS, Rio M, Faivre d'Arcier L, Vernerey D, Landrieu P, Slama A, Jardel C, Laforêt P, Rodriguez D, Dorison N, Galanaud D, Chabrol B, Paquis-Flucklinger V, Grévent D, Edvardson S, Steffann J, Funalot B, Villeneuve N, Valayannopoulos V, de Lonlay P, Desguerre I, Brunelle F, Bonnefont JP, Rötig A, Munnich A, Boddaert N.

J Med Genet. 2011 Jan;48(1):16-23. doi: 10.1136/jmg.2010.079624. Epub 2010 Oct 23.

PMID:
20972245
5.

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).

Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, Panagiotaraki C, Seneca S, Lissens W, Ribes A, Geers C, Smet J, De Meirleir L.

Eur J Paediatr Neurol. 2013 Nov;17(6):625-30. doi: 10.1016/j.ejpn.2013.05.013. Epub 2013 Jun 28.

PMID:
23816342
6.

Mitochondrial disease and epilepsy.

Rahman S.

Dev Med Child Neurol. 2012 May;54(5):397-406. doi: 10.1111/j.1469-8749.2011.04214.x. Epub 2012 Jan 28. Review.

7.

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient.

Mierzewska H, van der Knaap MS, Scheper GC, Bekiesinska-Figatowska M, Szczepanik E, Jurkiewicz E.

Brain Dev. 2011 Oct;33(9):713-7. doi: 10.1016/j.braindev.2010.12.005. Epub 2011 Jan 28.

PMID:
21277128
8.

[Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background].

Pronicka E, Piekutowska-Abramczuk D, Pronicki M.

Postepy Biochem. 2008;54(2):161-8. Review. Polish.

PMID:
18807927
9.

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

Reuter MS, Sass JO, Leis T, Köhler J, Mayr JA, Feichtinger RG, Rauh M, Schanze I, Bähr L, Trollmann R, Uebe S, Ekici AB, Reis A.

Am J Med Genet A. 2014 Dec;164A(12):3162-9. doi: 10.1002/ajmg.a.36766. Epub 2014 Sep 23.

PMID:
25251209
10.

Brain MRI and proton MRS findings in infants and children with respiratory chain defects.

Dinopoulos A, Cecil KM, Schapiro MB, Papadimitriou A, Hadjigeorgiou GM, Wong B, deGrauw T, Egelhoff JC.

Neuropediatrics. 2005 Oct;36(5):290-301.

PMID:
16217703
11.

Mitochondrial disorders and ataxia.

Vedanarayanan VV.

Semin Pediatr Neurol. 2003 Sep;10(3):200-9.

PMID:
14653408
12.

The expanding clinical spectrum of mitochondrial diseases.

De Vivo DC.

Brain Dev. 1993 Jan-Feb;15(1):1-22. Review.

PMID:
8338207
13.

[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations].

Devaux-Bricout M, Grévent D, Lebre AS, Rio M, Desguerre I, De Lonlay P, Valayannopoulos V, Brunelle F, Rötig A, Munnich A, Boddaert N.

Rev Neurol (Paris). 2014 May;170(5):381-9. doi: 10.1016/j.neurol.2014.03.006. Epub 2014 Apr 24. Review. French.

PMID:
24768439
14.

Diagnosis of mitochondrial diseases: clinical and histological study of sixty patients with ragged red fibers.

Challa S, Kanikannan MA, Murthy JM, Bhoompally VR, Surath M.

Neurol India. 2004 Sep;52(3):353-8.

15.

Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.

Oglesbee D, Freedenberg D, Kramer KA, Anderson BD, Hahn SH.

Pediatr Neurol. 2006 Oct;35(4):289-92.

PMID:
16996407
16.

Diagnosis and treatment of childhood mitochondrial diseases.

Gropman AL.

Curr Neurol Neurosci Rep. 2001 Mar;1(2):185-94. Review.

PMID:
11898515
17.

Early-onset LBSL: how severe does it get?

Steenweg ME, van Berge L, van Berkel CG, de Coo IF, Temple IK, Brockmann K, Mendonça CI, Vojta S, Kolk A, Peck D, Carr L, Uziel G, Feigenbaum A, Blaser S, Scheper GC, van der Knaap MS.

Neuropediatrics. 2012 Dec;43(6):332-8. doi: 10.1055/s-0032-1329395. Epub 2012 Oct 12.

PMID:
23065766
18.

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naudé J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M.

Brain. 2012 May;135(Pt 5):1387-94. doi: 10.1093/brain/aws070. Epub 2012 Apr 4.

PMID:
22492562
19.

1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.

Boddaert N, Romano S, Funalot B, Rio M, Sarzi E, Lebre AS, Bahi-Buisson N, Valayannopoulos V, Desguerre I, Seidenwurm D, Brunelle F, Brami-Zylberberg F, Rötig A, Munnich A, de Lonlay P.

Mol Genet Metab. 2008 Jan;93(1):85-8. Epub 2007 Oct 22.

PMID:
17950645
20.

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.

Kashani A, Thiffault I, Dilenge ME, Saint-Martin C, Guerrero K, Tran LT, Shoubridge E, van der Knaap MS, Braverman N, Bernard G.

Neurogenetics. 2014 Aug;15(3):161-4. doi: 10.1007/s10048-014-0412-2. Epub 2014 Jun 21.

PMID:
24952175

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