Etiology
Crider K,
Williams J,
Qi YP,
Gutman J,
Yeung L,
Mai C,
Finkelstain J,
Mehta S,
Pons-Duran C,
Menéndez C,
Moraleda C,
Rogers L,
Daniels K,
Green P
Cochrane Database Syst Rev
2022 Feb 1;2(2022)
doi: 10.1002/14651858.CD014217.
PMID: 36321557Free PMC Article
James WPT,
Johnson RJ,
Speakman JR,
Wallace DC,
Frühbeck G,
Iversen PO,
Stover PJ
J Intern Med
2019 May;285(5):533-549.
Epub 2019 Feb 17
doi: 10.1111/joim.12878.
PMID: 30772945
Greene ND,
Copp AJ
Annu Rev Neurosci
2014;37:221-42.
doi: 10.1146/annurev-neuro-062012-170354.
PMID: 25032496Free PMC Article
Copp AJ,
Stanier P,
Greene ND
Lancet Neurol
2013 Aug;12(8):799-810.
Epub 2013 Jun 19
doi: 10.1016/S1474-4422(13)70110-8.
PMID: 23790957Free PMC Article
Langman LJ,
Cole DE
Crit Rev Clin Lab Sci
1999 Aug;36(4):365-406.
doi: 10.1080/10408369991239231.
PMID: 10486705
Diagnosis
Saragosti E,
Fattal-Valevski A,
Levin D,
Hausman-Kedem M,
Constantini S,
Mecica N,
Zarour S,
Roth J
Childs Nerv Syst
2023 Apr;39(4):849-856.
Epub 2023 Feb 27
doi: 10.1007/s00381-023-05888-2.
PMID: 36847963
Crider K,
Williams J,
Qi YP,
Gutman J,
Yeung L,
Mai C,
Finkelstain J,
Mehta S,
Pons-Duran C,
Menéndez C,
Moraleda C,
Rogers L,
Daniels K,
Green P
Cochrane Database Syst Rev
2022 Feb 1;2(2022)
doi: 10.1002/14651858.CD014217.
PMID: 36321557Free PMC Article
Martinez AF,
Kruszka PS,
Muenke M
Am J Med Genet C Semin Med Genet
2018 Jun;178(2):246-257.
Epub 2018 May 15
doi: 10.1002/ajmg.c.31616.
PMID: 29761634Free PMC Article
Molloy AM,
Pangilinan F,
Brody LC
Annu Rev Nutr
2017 Aug 21;37:269-291.
Epub 2017 Jun 19
doi: 10.1146/annurev-nutr-071714-034235.
PMID: 28628360
Greene ND,
Copp AJ
Annu Rev Neurosci
2014;37:221-42.
doi: 10.1146/annurev-neuro-062012-170354.
PMID: 25032496Free PMC Article
Therapy
Crider K,
Williams J,
Qi YP,
Gutman J,
Yeung L,
Mai C,
Finkelstain J,
Mehta S,
Pons-Duran C,
Menéndez C,
Moraleda C,
Rogers L,
Daniels K,
Green P
Cochrane Database Syst Rev
2022 Feb 1;2(2022)
doi: 10.1002/14651858.CD014217.
PMID: 36321557Free PMC Article
Molloy AM,
Pangilinan F,
Brody LC
Annu Rev Nutr
2017 Aug 21;37:269-291.
Epub 2017 Jun 19
doi: 10.1146/annurev-nutr-071714-034235.
PMID: 28628360
Greene ND,
Leung KY,
Copp AJ
Birth Defects Res
2017 Jan 30;109(2):68-80.
doi: 10.1002/bdra.23533.
PMID: 27324558Free PMC Article
Greene ND,
Copp AJ
Annu Rev Neurosci
2014;37:221-42.
doi: 10.1146/annurev-neuro-062012-170354.
PMID: 25032496Free PMC Article
Copp AJ,
Stanier P,
Greene ND
Lancet Neurol
2013 Aug;12(8):799-810.
Epub 2013 Jun 19
doi: 10.1016/S1474-4422(13)70110-8.
PMID: 23790957Free PMC Article
Prognosis
Crider K,
Williams J,
Qi YP,
Gutman J,
Yeung L,
Mai C,
Finkelstain J,
Mehta S,
Pons-Duran C,
Menéndez C,
Moraleda C,
Rogers L,
Daniels K,
Green P
Cochrane Database Syst Rev
2022 Feb 1;2(2022)
doi: 10.1002/14651858.CD014217.
PMID: 36321557Free PMC Article
Poletta FA,
Rittler M,
Saleme C,
Campaña H,
Gili JA,
Pawluk MS,
Gimenez LG,
Cosentino VR,
Castilla EE,
López-Camelo JS
PLoS One
2018;13(3):e0193127.
Epub 2018 Mar 14
doi: 10.1371/journal.pone.0193127.
PMID: 29538416Free PMC Article
Kubal WS
Radiol Clin North Am
2012 Jan;50(1):15-41.
doi: 10.1016/j.rcl.2011.08.010.
PMID: 22099485
Poretti A,
Prayer D,
Boltshauser E
Eur J Paediatr Neurol
2009 Sep;13(5):397-407.
Epub 2008 Oct 22
doi: 10.1016/j.ejpn.2008.09.001.
PMID: 18945628
DeSesso JM,
Scialli AR,
Holson JF
Am J Med Genet
1999 Nov 19;87(2):143-62.
doi: 10.1002/(sici)1096-8628(19991119)87:2<143::aid-ajmg6>3.0.co;2-j.
PMID: 10533029
Clinical prediction guides
Crider K,
Williams J,
Qi YP,
Gutman J,
Yeung L,
Mai C,
Finkelstain J,
Mehta S,
Pons-Duran C,
Menéndez C,
Moraleda C,
Rogers L,
Daniels K,
Green P
Cochrane Database Syst Rev
2022 Feb 1;2(2022)
doi: 10.1002/14651858.CD014217.
PMID: 36321557Free PMC Article
Wolujewicz P,
Steele JW,
Kaltschmidt JA,
Finnell RH,
Ross ME
Genesis
2021 Nov;59(11):e23459.
Epub 2021 Oct 29
doi: 10.1002/dvg.23459.
PMID: 34713546Free PMC Article
Greene ND,
Leung KY,
Copp AJ
Birth Defects Res
2017 Jan 30;109(2):68-80.
doi: 10.1002/bdra.23533.
PMID: 27324558Free PMC Article
Blom HJ,
Shaw GM,
den Heijer M,
Finnell RH
Nat Rev Neurosci
2006 Sep;7(9):724-31.
doi: 10.1038/nrn1986.
PMID: 16924261Free PMC Article
Weprin BE,
Oakes WJ
Pediatrics
2000 May;105(5):E69.
doi: 10.1542/peds.105.5.e69.
PMID: 10799633