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Year | Number of Results |
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2007 | 1 |
2010 | 1 |
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2021 | 1 |
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PubMed (cited) for id: 611126
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Page 1
Development and characterization of a mouse model for Acad9 deficiency.
Mol Genet Metab. 2021 Sep-Oct;134(1-2):156-163. doi: 10.1016/j.ymgme.2021.09.002. Epub 2021 Sep 14.
Mol Genet Metab. 2021.
PMID: 34556413
Free PMC article.
Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.
Dewulf JP, Barrea C, Vincent MF, De Laet C, Van Coster R, Seneca S, Marie S, Nassogne MC.
Dewulf JP, et al.
Mol Genet Metab. 2016 Jul;118(3):185-189. doi: 10.1016/j.ymgme.2016.05.005. Epub 2016 May 13.
Mol Genet Metab. 2016.
PMID: 27233227
Item in Clipboard
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Häberle J, Munnich A, Rötig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J.
Schiff M, et al.
Hum Mol Genet. 2015 Jun 1;24(11):3238-47. doi: 10.1093/hmg/ddv074. Epub 2015 Feb 26.
Hum Mol Genet. 2015.
PMID: 25721401
Free PMC article.
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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H.
Haack TB, et al.
J Med Genet. 2012 Apr;49(4):277-83. doi: 10.1136/jmedgenet-2012-100846.
J Med Genet. 2012.
PMID: 22499348
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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H.
Haack TB, et al.
Nat Genet. 2010 Dec;42(12):1131-4. doi: 10.1038/ng.706. Epub 2010 Nov 7.
Nat Genet. 2010.
PMID: 21057504
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A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J.
He M, et al.
Am J Hum Genet. 2007 Jul;81(1):87-103. doi: 10.1086/519219. Epub 2007 Jun 4.
Am J Hum Genet. 2007.
PMID: 17564966
Free PMC article.
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