Etiology
Lines MA,
Cuillerier A,
Chakraborty P,
Naas T,
Duque Lasio ML,
Michaud J,
Pileggi C,
Harper ME,
Burelle Y,
Toler TL,
Sondheimer N,
Crawford HP,
Millan F,
Geraghty MT
Eur J Hum Genet
2021 Nov;29(11):1719-1724.
Epub 2021 Sep 6
doi: 10.1038/s41431-021-00956-0.
PMID: 34483339Free PMC Article
Staretz-Chacham O,
Wormser O,
Manor E,
Birk OS,
Ferreira CR
Am J Med Genet A
2019 Jul;179(7):1293-1298.
Epub 2019 Apr 4
doi: 10.1002/ajmg.a.61138.
PMID: 30950220Free PMC Article
Shahrour MA,
Staretz-Chacham O,
Dayan D,
Stephen J,
Weech A,
Damseh N,
Pri Chen H,
Edvardson S,
Mazaheri S,
Saada A;
NISC Intramural Sequencing,
Hershkovitz E,
Shaag A,
Huizing M,
Abu-Libdeh B,
Gahl WA,
Azem A,
Anikster Y,
Vilboux T,
Elpeleg O,
Malicdan MC
Clin Genet
2017 May;91(5):690-696.
Epub 2016 Oct 12
doi: 10.1111/cge.12855.
PMID: 27573165Free PMC Article
Wortmann SB,
Rodenburg RJ,
Jonckheere A,
de Vries MC,
Huizing M,
Heldt K,
van den Heuvel LP,
Wendel U,
Kluijtmans LA,
Engelke UF,
Wevers RA,
Smeitink JA,
Morava E
Brain
2009 Jan;132(Pt 1):136-46.
Epub 2008 Nov 16
doi: 10.1093/brain/awn296.
PMID: 19015156
De Vivo DC
Brain Dev
1993 Jan-Feb;15(1):1-22.
doi: 10.1016/0387-7604(93)90002-p.
PMID: 8338207
Diagnosis
Staretz-Chacham O,
Wormser O,
Manor E,
Birk OS,
Ferreira CR
Am J Med Genet A
2019 Jul;179(7):1293-1298.
Epub 2019 Apr 4
doi: 10.1002/ajmg.a.61138.
PMID: 30950220Free PMC Article
Cohen I,
Staretz-Chacham O,
Wormser O,
Perez Y,
Saada A,
Kadir R,
Birk OS
Am J Med Genet A
2018 Feb;176(2):330-336.
Epub 2017 Dec 11
doi: 10.1002/ajmg.a.38574.
PMID: 29226520
Jackson CB,
Hahn D,
Schröter B,
Richter U,
Battersby BJ,
Schmitt-Mechelke T,
Marttinen P,
Nuoffer JM,
Schaller A
Eur J Med Genet
2017 Jun;60(6):345-351.
Epub 2017 Apr 13
doi: 10.1016/j.ejmg.2017.04.006.
PMID: 28412374
Jonckheere AI,
Renkema GH,
Bras M,
van den Heuvel LP,
Hoischen A,
Gilissen C,
Nabuurs SB,
Huynen MA,
de Vries MC,
Smeitink JA,
Rodenburg RJ
Brain
2013 May;136(Pt 5):1544-54.
Epub 2013 Apr 18
doi: 10.1093/brain/awt086.
PMID: 23599390
Ma YY,
Zhang XL,
Wu TF,
Liu YP,
Wang Q,
Zhang Y,
Song JQ,
Wang YJ,
Yang YL
J Child Neurol
2011 Aug;26(8):974-9.
Epub 2011 May 3
doi: 10.1177/0883073811399905.
PMID: 21540367
Prognosis
Lines MA,
Cuillerier A,
Chakraborty P,
Naas T,
Duque Lasio ML,
Michaud J,
Pileggi C,
Harper ME,
Burelle Y,
Toler TL,
Sondheimer N,
Crawford HP,
Millan F,
Geraghty MT
Eur J Hum Genet
2021 Nov;29(11):1719-1724.
Epub 2021 Sep 6
doi: 10.1038/s41431-021-00956-0.
PMID: 34483339Free PMC Article
Shahrour MA,
Staretz-Chacham O,
Dayan D,
Stephen J,
Weech A,
Damseh N,
Pri Chen H,
Edvardson S,
Mazaheri S,
Saada A;
NISC Intramural Sequencing,
Hershkovitz E,
Shaag A,
Huizing M,
Abu-Libdeh B,
Gahl WA,
Azem A,
Anikster Y,
Vilboux T,
Elpeleg O,
Malicdan MC
Clin Genet
2017 May;91(5):690-696.
Epub 2016 Oct 12
doi: 10.1111/cge.12855.
PMID: 27573165Free PMC Article
Jonckheere AI,
Huigsloot M,
Lammens M,
Jansen J,
van den Heuvel LP,
Spiekerkoetter U,
von Kleist-Retzow JC,
Forkink M,
Koopman WJ,
Szklarczyk R,
Huynen MA,
Fransen JA,
Smeitink JA,
Rodenburg RJ
Mitochondrion
2011 Nov;11(6):954-63.
Epub 2011 Sep 14
doi: 10.1016/j.mito.2011.08.012.
PMID: 21945727
De Meirleir L,
Seneca S,
Lissens W,
De Clercq I,
Eyskens F,
Gerlo E,
Smet J,
Van Coster R
J Med Genet
2004 Feb;41(2):120-4.
doi: 10.1136/jmg.2003.012047.
PMID: 14757859Free PMC Article
Clinical prediction guides
Lines MA,
Cuillerier A,
Chakraborty P,
Naas T,
Duque Lasio ML,
Michaud J,
Pileggi C,
Harper ME,
Burelle Y,
Toler TL,
Sondheimer N,
Crawford HP,
Millan F,
Geraghty MT
Eur J Hum Genet
2021 Nov;29(11):1719-1724.
Epub 2021 Sep 6
doi: 10.1038/s41431-021-00956-0.
PMID: 34483339Free PMC Article
Emmanuel IA,
Olotu FA,
Agoni C,
Soliman MES
Curr Pharm Biotechnol
2020;21(14):1551-1566.
doi: 10.2174/1389201021666200628152246.
PMID: 32598251
Jonckheere AI,
Renkema GH,
Bras M,
van den Heuvel LP,
Hoischen A,
Gilissen C,
Nabuurs SB,
Huynen MA,
de Vries MC,
Smeitink JA,
Rodenburg RJ
Brain
2013 May;136(Pt 5):1544-54.
Epub 2013 Apr 18
doi: 10.1093/brain/awt086.
PMID: 23599390
Jonckheere AI,
Huigsloot M,
Lammens M,
Jansen J,
van den Heuvel LP,
Spiekerkoetter U,
von Kleist-Retzow JC,
Forkink M,
Koopman WJ,
Szklarczyk R,
Huynen MA,
Fransen JA,
Smeitink JA,
Rodenburg RJ
Mitochondrion
2011 Nov;11(6):954-63.
Epub 2011 Sep 14
doi: 10.1016/j.mito.2011.08.012.
PMID: 21945727
Geromel V,
Kadhom N,
Cebalos-Picot I,
Ouari O,
Polidori A,
Munnich A,
Rötig A,
Rustin P
Hum Mol Genet
2001 May 15;10(11):1221-8.
doi: 10.1093/hmg/10.11.1221.
PMID: 11371515