Etiology
Ahrens AP,
Hyötyläinen T,
Petrone JR,
Igelström K,
George CD,
Garrett TJ,
Orešič M,
Triplett EW,
Ludvigsson J
Cell
2024 Apr 11;187(8):1853-1873.e15.
Epub 2024 Apr 3
doi: 10.1016/j.cell.2024.02.035.
PMID: 38574728
Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P
Genes (Basel)
2023 Aug 23;14(9)
doi: 10.3390/genes14091664.
PMID: 37761804Free PMC Article
Catsman-Berrevoets C,
Patay Z
Handb Clin Neurol
2018;155:273-288.
doi: 10.1016/B978-0-444-64189-2.00018-4.
PMID: 29891065
Bodranghien F,
Bastian A,
Casali C,
Hallett M,
Louis ED,
Manto M,
Mariën P,
Nowak DA,
Schmahmann JD,
Serrao M,
Steiner KM,
Strupp M,
Tilikete C,
Timmann D,
van Dun K
Cerebellum
2016 Jun;15(3):369-91.
doi: 10.1007/s12311-015-0687-3.
PMID: 26105056Free PMC Article
Enderby P
Handb Clin Neurol
2013;110:273-81.
doi: 10.1016/B978-0-444-52901-5.00022-8.
PMID: 23312647
Diagnosis
Ahrens AP,
Hyötyläinen T,
Petrone JR,
Igelström K,
George CD,
Garrett TJ,
Orešič M,
Triplett EW,
Ludvigsson J
Cell
2024 Apr 11;187(8):1853-1873.e15.
Epub 2024 Apr 3
doi: 10.1016/j.cell.2024.02.035.
PMID: 38574728
Utianski RL,
Josephs KA
Curr Neurol Neurosci Rep
2023 Jul;23(7):353-359.
Epub 2023 Jun 3
doi: 10.1007/s11910-023-01275-1.
PMID: 37269450Free PMC Article
Botha H,
Josephs KA
Continuum (Minneap Minn)
2019 Feb;25(1):101-127.
doi: 10.1212/CON.0000000000000699.
PMID: 30707189Free PMC Article
Perez HR,
Stoeckle JH
Can Fam Physician
2016 Jun;62(6):479-84.
PMID: 27303004Free PMC Article
Enderby P
Handb Clin Neurol
2013;110:273-81.
doi: 10.1016/B978-0-444-52901-5.00022-8.
PMID: 23312647
Therapy
Wang J,
Yang X,
Hao S,
Wang Y
Int J Paediatr Dent
2022 Mar;32(2):144-156.
Epub 2021 May 22
doi: 10.1111/ipd.12802.
PMID: 33964037
Mactier H,
Hamilton R
Early Hum Dev
2020 Nov;150:105188.
Epub 2020 Sep 10
doi: 10.1016/j.earlhumdev.2020.105188.
PMID: 32958331
Catsman-Berrevoets C,
Patay Z
Handb Clin Neurol
2018;155:273-288.
doi: 10.1016/B978-0-444-64189-2.00018-4.
PMID: 29891065
Laurent C,
Capron J,
Quillerou B,
Thomas G,
Alamowitch S,
Fain O,
Mekinian A
Autoimmun Rev
2016 Dec;15(12):1129-1133.
Epub 2016 Sep 15
doi: 10.1016/j.autrev.2016.09.008.
PMID: 27639840
Perez HR,
Stoeckle JH
Can Fam Physician
2016 Jun;62(6):479-84.
PMID: 27303004Free PMC Article
Prognosis
Ahrens AP,
Hyötyläinen T,
Petrone JR,
Igelström K,
George CD,
Garrett TJ,
Orešič M,
Triplett EW,
Ludvigsson J
Cell
2024 Apr 11;187(8):1853-1873.e15.
Epub 2024 Apr 3
doi: 10.1016/j.cell.2024.02.035.
PMID: 38574728
Pereira VJ,
Sell D
Int J Lang Commun Disord
2024 Nov-Dec;59(6):2181-2196.
Epub 2023 Aug 31
doi: 10.1111/1460-6984.12946.
PMID: 37650488
Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P
Genes (Basel)
2023 Aug 23;14(9)
doi: 10.3390/genes14091664.
PMID: 37761804Free PMC Article
Botha H,
Josephs KA
Continuum (Minneap Minn)
2019 Feb;25(1):101-127.
doi: 10.1212/CON.0000000000000699.
PMID: 30707189Free PMC Article
Büchel C,
Sommer M
PLoS Biol
2004 Feb;2(2):E46.
Epub 2004 Feb 17
doi: 10.1371/journal.pbio.0020046.
PMID: 14966540Free PMC Article
Clinical prediction guides
Ahrens AP,
Hyötyläinen T,
Petrone JR,
Igelström K,
George CD,
Garrett TJ,
Orešič M,
Triplett EW,
Ludvigsson J
Cell
2024 Apr 11;187(8):1853-1873.e15.
Epub 2024 Apr 3
doi: 10.1016/j.cell.2024.02.035.
PMID: 38574728
Pascual P,
Tenorio-Castano J,
Mignot C,
Afenjar A,
Arias P,
Gallego-Zazo N,
Parra A,
Miranda L,
Cazalla M,
Silván C,
Heron D,
Keren B,
Popa I,
Palomares M,
Rikeros E,
Ramos FJ,
Almoguera B,
Ayuso C,
Swafiri ST,
Barbero AIS,
Srinivasan VM,
Gowda VK,
Morleo M,
Nigro V,
D'Arrigo S,
Ciaccio C,
Martin Mesa C,
Paumard B,
Guillen G,
Anton ATS,
Jimenez MD,
Seidel V,
Suárez J,
Cormier-Daire V,
Consortium TS,
Nevado J,
Lapunzina P
Genes (Basel)
2023 Aug 23;14(9)
doi: 10.3390/genes14091664.
PMID: 37761804Free PMC Article
Wang J,
Yang X,
Hao S,
Wang Y
Int J Paediatr Dent
2022 Mar;32(2):144-156.
Epub 2021 May 22
doi: 10.1111/ipd.12802.
PMID: 33964037
Redaelli S,
Maitz S,
Crosti F,
Sala E,
Villa N,
Spaccini L,
Selicorni A,
Rigoldi M,
Conconi D,
Dalprà L,
Roversi G,
Bentivegna A
Int J Mol Sci
2019 Mar 4;20(5)
doi: 10.3390/ijms20051095.
PMID: 30836598Free PMC Article
Bodranghien F,
Bastian A,
Casali C,
Hallett M,
Louis ED,
Manto M,
Mariën P,
Nowak DA,
Schmahmann JD,
Serrao M,
Steiner KM,
Strupp M,
Tilikete C,
Timmann D,
van Dun K
Cerebellum
2016 Jun;15(3):369-91.
doi: 10.1007/s12311-015-0687-3.
PMID: 26105056Free PMC Article