Etiology
Whitehead MT,
Barkovich MJ,
Sidpra J,
Alves CA,
Mirsky DM,
Öztekin Ö,
Bhattacharya D,
Lucato LT,
Sudhakar S,
Taranath A,
Andronikou S,
Prabhu SP,
Aldinger KA,
Haldipur P,
Millen KJ,
Barkovich AJ,
Boltshauser E,
Dobyns WB,
Mankad K
AJNR Am J Neuroradiol
2022 Oct;43(10):1488-1493.
Epub 2022 Sep 22
doi: 10.3174/ajnr.A7659.
PMID: 36137655Free PMC Article
Gana S,
Serpieri V,
Valente EM
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):72-88.
Epub 2022 Mar 3
doi: 10.1002/ajmg.c.31963.
PMID: 35238134Free PMC Article
McConnachie DJ,
Stow JL,
Mallett AJ
Am J Kidney Dis
2021 Mar;77(3):410-419.
Epub 2020 Oct 9
doi: 10.1053/j.ajkd.2020.08.012.
PMID: 33039432
Donovan AP,
Basson MA
J Anat
2017 Jan;230(1):4-15.
Epub 2016 Sep 12
doi: 10.1111/joa.12542.
PMID: 27620360Free PMC Article
Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
2015 Aug;52(8):514-22.
Epub 2015 Jun 19
doi: 10.1136/jmedgenet-2015-103087.
PMID: 26092869Free PMC Article
Diagnosis
Spahiu L,
Behluli E,
Grajçevci-Uka V,
Liehr T,
Temaj G
J Mother Child
2022 Mar 1;26(1):118-123.
Epub 2023 Feb 22
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
PMID: 36803942Free PMC Article
Moosavi A,
Kanekar S
Clin Perinatol
2022 Sep;49(3):603-621.
Epub 2022 Aug 20
doi: 10.1016/j.clp.2022.04.003.
PMID: 36113925
Fouda MA,
Kim TY,
Cohen AR
World Neurosurg
2022 Mar;159:48-53.
Epub 2021 Dec 22
doi: 10.1016/j.wneu.2021.12.062.
PMID: 34954057
Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
2015 Aug;52(8):514-22.
Epub 2015 Jun 19
doi: 10.1136/jmedgenet-2015-103087.
PMID: 26092869Free PMC Article
Govaert P
Semin Fetal Neonatal Med
2009 Oct;14(5):250-66.
Epub 2009 Aug 6
doi: 10.1016/j.siny.2009.07.008.
PMID: 19664975
Therapy
Jo S,
Yarishkin O,
Hwang YJ,
Chun YE,
Park M,
Woo DH,
Bae JY,
Kim T,
Lee J,
Chun H,
Park HJ,
Lee DY,
Hong J,
Kim HY,
Oh SJ,
Park SJ,
Lee H,
Yoon BE,
Kim Y,
Jeong Y,
Shim I,
Bae YC,
Cho J,
Kowall NW,
Ryu H,
Hwang E,
Kim D,
Lee CJ
Nat Med
2014 Aug;20(8):886-96.
Epub 2014 Jun 29
doi: 10.1038/nm.3639.
PMID: 24973918Free PMC Article
Desai J,
Mitchell WG
J Child Neurol
2012 Nov;27(11):1482-8.
Epub 2012 Jul 17
doi: 10.1177/0883073812450318.
PMID: 22805251
Walsh DS,
Adzick NS
Semin Neonatol
2003 Jun;8(3):197-205.
doi: 10.1016/S1084-2756(03)00030-7.
PMID: 15001138
Lee DA,
Lopez-Alberola R,
Bhattacharjee M
Neurologist
2003 Mar;9(2):99-109.
doi: 10.1097/01.nrl.0000051441.03160.e0.
PMID: 12808372
Blakemore SJ,
Wolpert D,
Frith C
Neuroreport
2000 Aug 3;11(11):R11-6.
doi: 10.1097/00001756-200008030-00002.
PMID: 10943682
Prognosis
Gana S,
Serpieri V,
Valente EM
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):72-88.
Epub 2022 Mar 3
doi: 10.1002/ajmg.c.31963.
PMID: 35238134Free PMC Article
Accogli A,
Addour-Boudrahem N,
Srour M
Cerebellum
2021 Aug;20(4):631-658.
Epub 2021 Feb 3
doi: 10.1007/s12311-020-01224-5.
PMID: 33534089
Society for Maternal-Fetal Medicine (SMFM),
Monteagudo A
Am J Obstet Gynecol
2020 Dec;223(6):B38-B41.
Epub 2020 Nov 7
doi: 10.1016/j.ajog.2020.08.184.
PMID: 33168220
Bertini E,
Zanni G,
Boltshauser E
Handb Clin Neurol
2018;155:91-103.
doi: 10.1016/B978-0-444-64189-2.00006-8.
PMID: 29891079
Munell F,
Tormos MA,
Roig-Quilis M
Rev Neurol
2018 Apr 1;66(7):241-250.
PMID: 29557550
Clinical prediction guides
Bologna M,
Berardelli A
Handb Clin Neurol
2018;155:259-272.
doi: 10.1016/B978-0-444-64189-2.00017-2.
PMID: 29891064
Bostan AC,
Strick PL
Nat Rev Neurosci
2018 Jun;19(6):338-350.
doi: 10.1038/s41583-018-0002-7.
PMID: 29643480Free PMC Article
Donovan AP,
Basson MA
J Anat
2017 Jan;230(1):4-15.
Epub 2016 Sep 12
doi: 10.1111/joa.12542.
PMID: 27620360Free PMC Article
Stoodley CJ
Cerebellum
2016 Feb;15(1):34-37.
doi: 10.1007/s12311-015-0715-3.
PMID: 26298473Free PMC Article
Bachmann-Gagescu R,
Dempsey JC,
Phelps IG,
O'Roak BJ,
Knutzen DM,
Rue TC,
Ishak GE,
Isabella CR,
Gorden N,
Adkins J,
Boyle EA,
de Lacy N,
O'Day D,
Alswaid A,
Ramadevi A R,
Lingappa L,
Lourenço C,
Martorell L,
Garcia-Cazorla À,
Ozyürek H,
Haliloğlu G,
Tuysuz B,
Topçu M;
University of Washington Center for Mendelian Genomics,
Chance P,
Parisi MA,
Glass IA,
Shendure J,
Doherty D
J Med Genet
2015 Aug;52(8):514-22.
Epub 2015 Jun 19
doi: 10.1136/jmedgenet-2015-103087.
PMID: 26092869Free PMC Article