Etiology
Iwanicka-Pronicka K,
Guzek A,
Sarnecki J,
Tylki-Szymańska A
Int J Pediatr Otorhinolaryngol
2023 Jun;169:111556.
Epub 2023 Apr 17
doi: 10.1016/j.ijporl.2023.111556.
PMID: 37099947
Sakakibara N,
Nozu K,
Yamamura T,
Horinouchi T,
Nagano C,
Ye MJ,
Ishiko S,
Aoto Y,
Rossanti R,
Hamada R,
Okamoto N,
Shima Y,
Nakanishi K,
Matsuo M,
Iijima K,
Morisada N
J Hum Genet
2022 Jul;67(7):427-440.
Epub 2022 Feb 9
doi: 10.1038/s10038-022-01020-5.
PMID: 35140360
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
doi: 10.1159/000506770.
PMID: 32349000
Shukla A,
Upadhyai P,
Shah J,
Neethukrishna K,
Bielas S,
Girisha KM
Eur J Med Genet
2017 Feb;60(2):118-123.
Epub 2016 Nov 29
doi: 10.1016/j.ejmg.2016.11.006.
PMID: 27913285Free PMC Article
Krieger M,
Roos A,
Stendel C,
Claeys KG,
Sonmez FM,
Baudis M,
Bauer P,
Bornemann A,
de Goede C,
Dufke A,
Finkel RS,
Goebel HH,
Häussler M,
Kingston H,
Kirschner J,
Medne L,
Muschke P,
Rivier F,
Rudnik-Schöneborn S,
Spengler S,
Inzana F,
Stanzial F,
Benedicenti F,
Synofzik M,
Lia Taratuto A,
Pirra L,
Tay SK,
Topaloglu H,
Uyanik G,
Wand D,
Williams D,
Zerres K,
Weis J,
Senderek J
Brain
2013 Dec;136(Pt 12):3634-44.
Epub 2013 Oct 30
doi: 10.1093/brain/awt283.
PMID: 24176978
Diagnosis
van Spronsen FJ,
Blau N,
Harding C,
Burlina A,
Longo N,
Bosch AM
Nat Rev Dis Primers
2021 May 20;7(1):36.
doi: 10.1038/s41572-021-00267-0.
PMID: 34017006Free PMC Article
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
doi: 10.1159/000506770.
PMID: 32349000
Poke G,
King C,
Muir A,
de Valles-Ibáñez G,
Germano M,
Moura de Souza CF,
Fung J,
Chung B,
Fung CW,
Mignot C,
Ilea A,
Keren B,
Vermersch AI,
Davis S,
Stanley T,
Moharir M,
Kannu P,
Shao Z,
Malerba N,
Merla G,
Mefford HC,
Scheffer IE,
Sadleir LG
Epilepsia
2019 Nov;60(11):e121-e127.
Epub 2019 Oct 20
doi: 10.1111/epi.16372.
PMID: 31631344
Srinath A,
Shneider BL
J Pediatr Gastroenterol Nutr
2012 May;54(5):580-7.
doi: 10.1097/MPG.0b013e31824711b7.
PMID: 22197937Free PMC Article
Almashraki N,
Abdulnabee MZ,
Sukalo M,
Alrajoudi A,
Sharafadeen I,
Zenker M
World J Gastroenterol
2011 Oct 7;17(37):4247-50.
doi: 10.3748/wjg.v17.i37.4247.
PMID: 22072859Free PMC Article
Therapy
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
doi: 10.1159/000506770.
PMID: 32349000
Hamici S,
Bastaki F,
Khalifa M
Eur J Med Genet
2017 Oct;60(10):541-547.
Epub 2017 Aug 1
doi: 10.1016/j.ejmg.2017.07.014.
PMID: 28778787
Prognosis
Iwanicka-Pronicka K,
Guzek A,
Sarnecki J,
Tylki-Szymańska A
Int J Pediatr Otorhinolaryngol
2023 Jun;169:111556.
Epub 2023 Apr 17
doi: 10.1016/j.ijporl.2023.111556.
PMID: 37099947
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
doi: 10.1159/000506770.
PMID: 32349000
Poke G,
King C,
Muir A,
de Valles-Ibáñez G,
Germano M,
Moura de Souza CF,
Fung J,
Chung B,
Fung CW,
Mignot C,
Ilea A,
Keren B,
Vermersch AI,
Davis S,
Stanley T,
Moharir M,
Kannu P,
Shao Z,
Malerba N,
Merla G,
Mefford HC,
Scheffer IE,
Sadleir LG
Epilepsia
2019 Nov;60(11):e121-e127.
Epub 2019 Oct 20
doi: 10.1111/epi.16372.
PMID: 31631344
Rajab A,
Mochida GH,
Hill A,
Ganesh V,
Bodell A,
Riaz A,
Grant PE,
Shugart YY,
Walsh CA
Neurology
2003 May 27;60(10):1664-7.
doi: 10.1212/01.wnl.0000068548.58498.41.
PMID: 12771259
Clinical prediction guides
Iwanicka-Pronicka K,
Guzek A,
Sarnecki J,
Tylki-Szymańska A
Int J Pediatr Otorhinolaryngol
2023 Jun;169:111556.
Epub 2023 Apr 17
doi: 10.1016/j.ijporl.2023.111556.
PMID: 37099947
Poke G,
King C,
Muir A,
de Valles-Ibáñez G,
Germano M,
Moura de Souza CF,
Fung J,
Chung B,
Fung CW,
Mignot C,
Ilea A,
Keren B,
Vermersch AI,
Davis S,
Stanley T,
Moharir M,
Kannu P,
Shao Z,
Malerba N,
Merla G,
Mefford HC,
Scheffer IE,
Sadleir LG
Epilepsia
2019 Nov;60(11):e121-e127.
Epub 2019 Oct 20
doi: 10.1111/epi.16372.
PMID: 31631344
Riazuddin S,
Hussain M,
Razzaq A,
Iqbal Z,
Shahzad M,
Polla DL,
Song Y,
van Beusekom E,
Khan AA,
Tomas-Roca L,
Rashid M,
Zahoor MY,
Wissink-Lindhout WM,
Basra MAR,
Ansar M,
Agha Z,
van Heeswijk K,
Rasheed F,
Van de Vorst M,
Veltman JA,
Gilissen C,
Akram J,
Kleefstra T,
Assir MZ;
UK10K,
Grozeva D,
Carss K,
Raymond FL,
O'Connor TD,
Riazuddin SA,
Khan SN,
Ahmed ZM,
de Brouwer APM,
van Bokhoven H,
Riazuddin S
Mol Psychiatry
2017 Nov;22(11):1604-1614.
Epub 2016 Jul 26
doi: 10.1038/mp.2016.109.
PMID: 27457812Free PMC Article
Krieger M,
Roos A,
Stendel C,
Claeys KG,
Sonmez FM,
Baudis M,
Bauer P,
Bornemann A,
de Goede C,
Dufke A,
Finkel RS,
Goebel HH,
Häussler M,
Kingston H,
Kirschner J,
Medne L,
Muschke P,
Rivier F,
Rudnik-Schöneborn S,
Spengler S,
Inzana F,
Stanzial F,
Benedicenti F,
Synofzik M,
Lia Taratuto A,
Pirra L,
Tay SK,
Topaloglu H,
Uyanik G,
Wand D,
Williams D,
Zerres K,
Weis J,
Senderek J
Brain
2013 Dec;136(Pt 12):3634-44.
Epub 2013 Oct 30
doi: 10.1093/brain/awt283.
PMID: 24176978
Almashraki N,
Abdulnabee MZ,
Sukalo M,
Alrajoudi A,
Sharafadeen I,
Zenker M
World J Gastroenterol
2011 Oct 7;17(37):4247-50.
doi: 10.3748/wjg.v17.i37.4247.
PMID: 22072859Free PMC Article