Etiology
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
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
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
Wheway G,
Schmidts M,
Mans DA,
Szymanska K,
Nguyen TT,
Racher H,
Phelps IG,
Toedt G,
Kennedy J,
Wunderlich KA,
Sorusch N,
Abdelhamed ZA,
Natarajan S,
Herridge W,
van Reeuwijk J,
Horn N,
Boldt K,
Parry DA,
Letteboer SJF,
Roosing S,
Adams M,
Bell SM,
Bond J,
Higgins J,
Morrison EE,
Tomlinson DC,
Slaats GG,
van Dam TJP,
Huang L,
Kessler K,
Giessl A,
Logan CV,
Boyle EA,
Shendure J,
Anazi S,
Aldahmesh M,
Al Hazzaa S,
Hegele RA,
Ober C,
Frosk P,
Mhanni AA,
Chodirker BN,
Chudley AE,
Lamont R,
Bernier FP,
Beaulieu CL,
Gordon P,
Pon RT,
Donahue C,
Barkovich AJ,
Wolf L,
Toomes C,
Thiel CT,
Boycott KM,
McKibbin M,
Inglehearn CF;
UK10K Consortium;
University of Washington Center for Mendelian Genomics,
Stewart F,
Omran H,
Huynen MA,
Sergouniotis PI,
Alkuraya FS,
Parboosingh JS,
Innes AM,
Willoughby CE,
Giles RH,
Webster AR,
Ueffing M,
Blacque O,
Gleeson JG,
Wolfrum U,
Beales PL,
Gibson T,
Doherty D,
Mitchison HM,
Roepman R,
Johnson CA
Nat Cell Biol
2015 Aug;17(8):1074-1087.
Epub 2015 Jul 13
doi: 10.1038/ncb3201.
PMID: 26167768Free 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
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
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
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
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
Therapy
Yang W,
Zhang H,
Cai Y,
Peng X,
Sun H,
Chen J,
Ying Z,
Zhu K,
Peng Y,
Ge M
J Neurosurg Pediatr
2022 Dec 1;30(6):567-577.
Epub 2022 Oct 7
doi: 10.3171/2022.8.PEDS22294.
PMID: 36208442
Lee SH,
Nam TS,
Li W,
Kim JH,
Yoon W,
Choi YD,
Kim KH,
Cai H,
Kim MJ,
Kim C,
Choy HE,
Kim N,
Chay KO,
Kim MK,
Choi SY
Sci Rep
2017 Aug 31;7(1):10222.
doi: 10.1038/s41598-017-10652-z.
PMID: 28860541Free PMC Article
Motiei-Langroudi R,
Griessenauer CJ,
Alturki AY,
Chapman PH,
Ogilvy CS,
Thomas AJ
World Neurosurg
2017 Oct;106:285-290.
Epub 2017 Jul 8
doi: 10.1016/j.wneu.2017.06.165.
PMID: 28698085
O'Hare ED,
Kan E,
Yoshii J,
Mattson SN,
Riley EP,
Thompson PM,
Toga AW,
Sowell ER
Neuroreport
2005 Aug 22;16(12):1285-90.
doi: 10.1097/01.wnr.0000176515.11723.a2.
PMID: 16056126
De Bruecker Y,
Claus F,
Demaerel P,
Ballaux F,
Sciot R,
Lagae L,
Buyse G,
Wilms G
Eur Radiol
2004 Aug;14(8):1478-83.
Epub 2004 Feb 13
doi: 10.1007/s00330-004-2247-y.
PMID: 14968261
Prognosis
Hadjivassiliou M,
Blackburn D,
O'Malley R,
Hoggard N
Cerebellum
2024 Jun;23(3):1231-1234.
Epub 2023 Aug 9
doi: 10.1007/s12311-023-01592-8.
PMID: 37558930Free 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
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
Chilton I,
Okur V,
Vitiello G,
Selicorni A,
Mariani M,
Goldenberg A,
Husson T,
Campion D,
Lichtenbelt KD,
van Gassen K,
Steinraths M,
Rice J,
Roeder ER,
Littlejohn RO,
Srour M,
Sebire G,
Accogli A,
Héron D,
Heide S,
Nava C,
Depienne C,
Larson A,
Niyazov D,
Azage M,
Hoganson G,
Burton J,
Rush ET,
Jenkins JL,
Saunders CJ,
Thiffault I,
Alaimo JT,
Fleischer J,
Groepper D,
Gripp KW,
Chung WK
Am J Med Genet A
2020 May;182(5):962-973.
Epub 2020 Feb 7
doi: 10.1002/ajmg.a.61505.
PMID: 32031333
Clinical prediction guides
Lo CH,
Liu Z,
Chen S,
Lin F,
Berneshawi AR,
Yu CQ,
Koo EB,
Kowal TJ,
Ning K,
Hu Y,
Wang WJ,
Liao YJ,
Sun Y
J Clin Invest
2024 Jul 1;134(13)
doi: 10.1172/JCI175560.
PMID: 38949024Free PMC Article
Aksu Uzunhan T,
Ertürk B,
Aydın K,
Ayaz A,
Altunoğlu U,
Yarar MH,
Gezdirici A,
İçağasıoğlu DF,
Gökpınar İli E,
Uyanık B,
Eser M,
Kutbay YB,
Topçu Y,
Kılıç B,
Bektaş G,
Arduç Akçay A,
Ekici B,
Chousein A,
Avcı Ş,
Yüksel A,
Kayserili H
Clin Neurol Neurosurg
2023 Jan;224:107560.
Epub 2022 Dec 13
doi: 10.1016/j.clineuro.2022.107560.
PMID: 36580738
Chilton I,
Okur V,
Vitiello G,
Selicorni A,
Mariani M,
Goldenberg A,
Husson T,
Campion D,
Lichtenbelt KD,
van Gassen K,
Steinraths M,
Rice J,
Roeder ER,
Littlejohn RO,
Srour M,
Sebire G,
Accogli A,
Héron D,
Heide S,
Nava C,
Depienne C,
Larson A,
Niyazov D,
Azage M,
Hoganson G,
Burton J,
Rush ET,
Jenkins JL,
Saunders CJ,
Thiffault I,
Alaimo JT,
Fleischer J,
Groepper D,
Gripp KW,
Chung WK
Am J Med Genet A
2020 May;182(5):962-973.
Epub 2020 Feb 7
doi: 10.1002/ajmg.a.61505.
PMID: 32031333
Wheway G,
Schmidts M,
Mans DA,
Szymanska K,
Nguyen TT,
Racher H,
Phelps IG,
Toedt G,
Kennedy J,
Wunderlich KA,
Sorusch N,
Abdelhamed ZA,
Natarajan S,
Herridge W,
van Reeuwijk J,
Horn N,
Boldt K,
Parry DA,
Letteboer SJF,
Roosing S,
Adams M,
Bell SM,
Bond J,
Higgins J,
Morrison EE,
Tomlinson DC,
Slaats GG,
van Dam TJP,
Huang L,
Kessler K,
Giessl A,
Logan CV,
Boyle EA,
Shendure J,
Anazi S,
Aldahmesh M,
Al Hazzaa S,
Hegele RA,
Ober C,
Frosk P,
Mhanni AA,
Chodirker BN,
Chudley AE,
Lamont R,
Bernier FP,
Beaulieu CL,
Gordon P,
Pon RT,
Donahue C,
Barkovich AJ,
Wolf L,
Toomes C,
Thiel CT,
Boycott KM,
McKibbin M,
Inglehearn CF;
UK10K Consortium;
University of Washington Center for Mendelian Genomics,
Stewart F,
Omran H,
Huynen MA,
Sergouniotis PI,
Alkuraya FS,
Parboosingh JS,
Innes AM,
Willoughby CE,
Giles RH,
Webster AR,
Ueffing M,
Blacque O,
Gleeson JG,
Wolfrum U,
Beales PL,
Gibson T,
Doherty D,
Mitchison HM,
Roepman R,
Johnson CA
Nat Cell Biol
2015 Aug;17(8):1074-1087.
Epub 2015 Jul 13
doi: 10.1038/ncb3201.
PMID: 26167768Free 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