Etiology
Kishnani PS,
Kronn D,
Brassier A,
Broomfield A,
Davison J,
Hahn SH,
Kumada S,
Labarthe F,
Ohki H,
Pichard S,
Prakalapakorn SG,
Haack KA,
Kittner B,
Meng X,
Sparks S,
Wilson C,
Zaher A,
Chien YH;
Mini-COMET Investigators
Genet Med
2023 Feb;25(2):100328.
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Davison JE
J Mother Child
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Cochrane Database Syst Rev
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Angelini C
Biochim Biophys Acta
2015 Apr;1852(4):615-21.
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Nishino I
Semin Pediatr Neurol
2006 Jun;13(2):90-5.
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Diagnosis
Labella B,
Cotti Piccinelli S,
Risi B,
Caria F,
Damioli S,
Bertella E,
Poli L,
Padovani A,
Filosto M
Biomolecules
2023 Aug 22;13(9)
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PMID: 37759679Free PMC Article
Davison JE
J Mother Child
2020 Oct 2;24(2):3-8.
doi: 10.34763/jmotherandchild.20202402si.2001.000002.
PMID: 33554498Free PMC Article
Taverna S,
Cammarata G,
Colomba P,
Sciarrino S,
Zizzo C,
Francofonte D,
Zora M,
Scalia S,
Brando C,
Curto AL,
Marsana EM,
Olivieri R,
Vitale S,
Duro G
Aging (Albany NY)
2020 Aug 3;12(15):15856-15874.
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PMID: 32745073Free PMC Article
Bay LB,
Denzler I,
Durand C,
Eiroa H,
Frabasil J,
Fainboim A,
Maxit C,
Schenone A,
Spécola N
Arch Argent Pediatr
2019 Aug 1;117(4):271-278.
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PMID: 31339275
Teener JW
Semin Neurol
2012 Nov;32(5):506-11.
Epub 2013 May 15
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PMID: 23677658
Therapy
Dalmia S,
Sharma R,
Ramaswami U,
Hughes D,
Jahnke N,
Cole D,
Smith S,
Remmington T
Cochrane Database Syst Rev
2023 Dec 12;12(12):CD012993.
doi: 10.1002/14651858.CD012993.pub2.
PMID: 38084761Free PMC Article
Labella B,
Cotti Piccinelli S,
Risi B,
Caria F,
Damioli S,
Bertella E,
Poli L,
Padovani A,
Filosto M
Biomolecules
2023 Aug 22;13(9)
doi: 10.3390/biom13091279.
PMID: 37759679Free PMC Article
Kishnani PS,
Kronn D,
Brassier A,
Broomfield A,
Davison J,
Hahn SH,
Kumada S,
Labarthe F,
Ohki H,
Pichard S,
Prakalapakorn SG,
Haack KA,
Kittner B,
Meng X,
Sparks S,
Wilson C,
Zaher A,
Chien YH;
Mini-COMET Investigators
Genet Med
2023 Feb;25(2):100328.
Epub 2022 Dec 21
doi: 10.1016/j.gim.2022.10.010.
PMID: 36542086
Davison JE
J Mother Child
2020 Oct 2;24(2):3-8.
doi: 10.34763/jmotherandchild.20202402si.2001.000002.
PMID: 33554498Free PMC Article
Chen M,
Zhang L,
Quan S
Cochrane Database Syst Rev
2017 Nov 20;11(11):CD011539.
doi: 10.1002/14651858.CD011539.pub2.
PMID: 29155436Free PMC Article
Prognosis
Dalmia S,
Sharma R,
Ramaswami U,
Hughes D,
Jahnke N,
Cole D,
Smith S,
Remmington T
Cochrane Database Syst Rev
2023 Dec 12;12(12):CD012993.
doi: 10.1002/14651858.CD012993.pub2.
PMID: 38084761Free PMC Article
Sánchez-Sánchez LM,
Ávila-Rejón C,
Díaz-Martínez R,
Díaz-Murillo B,
Kazakova E,
López-Valdez J,
Martínez-Montoya V,
Olaiz-Urbina J,
Radillo-Díaz P,
Ricárdez-Marcial E,
Sandoval-Pacheco R,
Torres-Octavo B,
Vergara-Sánchez I
Gac Med Mex
2022;158(5):265-270.
doi: 10.24875/GMM.M22000694.
PMID: 36572041
Al-Hassnan Z,
Hashmi NA,
Makhseed N,
Omran TB,
Al Jasmi F,
Teneiji AA
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PMID: 36303251Free PMC Article
Holzwarth J,
Minopoli N,
Pfrimmer C,
Smitka M,
Borrel S,
Kirschner J,
Muschol N,
Hartmann H,
Hennermann JB,
Neubauer BA,
Hobbiebrunken E,
Husain RA,
Hahn A
Neuropediatrics
2022 Feb;53(1):39-45.
Epub 2021 Dec 1
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PMID: 34852371
van der Beek NA,
Hagemans ML,
van der Ploeg AT,
Reuser AJ,
van Doorn PA
Acta Neurol Belg
2006 Jun;106(2):82-6.
PMID: 16898258
Clinical prediction guides
Dalmia S,
Sharma R,
Ramaswami U,
Hughes D,
Jahnke N,
Cole D,
Smith S,
Remmington T
Cochrane Database Syst Rev
2023 Dec 12;12(12):CD012993.
doi: 10.1002/14651858.CD012993.pub2.
PMID: 38084761Free PMC Article
Kishnani PS,
Kronn D,
Brassier A,
Broomfield A,
Davison J,
Hahn SH,
Kumada S,
Labarthe F,
Ohki H,
Pichard S,
Prakalapakorn SG,
Haack KA,
Kittner B,
Meng X,
Sparks S,
Wilson C,
Zaher A,
Chien YH;
Mini-COMET Investigators
Genet Med
2023 Feb;25(2):100328.
Epub 2022 Dec 21
doi: 10.1016/j.gim.2022.10.010.
PMID: 36542086
Sánchez-Sánchez LM,
Ávila-Rejón C,
Díaz-Martínez R,
Díaz-Murillo B,
Kazakova E,
López-Valdez J,
Martínez-Montoya V,
Olaiz-Urbina J,
Radillo-Díaz P,
Ricárdez-Marcial E,
Sandoval-Pacheco R,
Torres-Octavo B,
Vergara-Sánchez I
Gac Med Mex
2022;158(5):265-270.
doi: 10.24875/GMM.M22000694.
PMID: 36572041
Hsueh CY,
Huang CY,
Yang CF,
Chang CC,
Lin WS,
Cheng HL,
Wu SL,
Cheng YF,
Niu DM
Orphanet J Rare Dis
2021 Aug 5;16(1):348.
doi: 10.1186/s13023-021-01817-1.
PMID: 34353347Free PMC Article
Yanovitch TL,
Banugaria SG,
Proia AD,
Kishnani PS
J Pediatr Ophthalmol Strabismus
2010 Jan-Feb;47(1):34-40.
Epub 2010 Jan 21
doi: 10.3928/01913913-20100106-08.
PMID: 20128552