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Page 1
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA. Leen WG, et al. Among authors: trounce j. Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. Brain. 2010. PMID: 20129935
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW. Lionel AC, et al. Among authors: trounce j. Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30. Hum Mol Genet. 2014. PMID: 24381304 Free PMC article.
A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.
Panjwani N, Wilson MD, Addis L, Crosbie J, Wirrell E, Auvin S, Caraballo RH, Kinali M, McCormick D, Oren C, Taylor J, Trounce J, Clarke T, Akman CI, Kugler SL, Mandelbaum DE, McGoldrick P, Wolf SM, Arnold P, Schachar R, Pal DK, Strug LJ. Panjwani N, et al. Among authors: trounce j. Ann Clin Transl Neurol. 2016 Jun 2;3(7):512-22. doi: 10.1002/acn3.320. eCollection 2016 Jul. Ann Clin Transl Neurol. 2016. PMID: 27386500 Free PMC article.
Risk factors for reading disability in families with rolandic epilepsy.
Vega YH, Smith A, Cockerill H, Tang S, Agirre-Arrizubieta Z, Goyal S, Pina M, Akman CI, Jolleff N, McGinnity C, Gomez K, Gupta R, Hughes E, Jackman J, McCormick D, Oren C, Scott D, Taylor J, Trounce J, Clarke T, Kugler S, Mandelbaum DE, McGoldrick P, Wolf S, Strug LJ, Pal DK. Vega YH, et al. Among authors: trounce j. Epilepsy Behav. 2015 Dec;53:174-9. doi: 10.1016/j.yebeh.2015.10.016. Epub 2015 Nov 12. Epilepsy Behav. 2015. PMID: 26580214 Free PMC article.
'Oral injury in child abuse'.
Howsam FZ, Perera L, Trounce J. Howsam FZ, et al. Among authors: trounce j. Arch Dis Child. 2014 Mar;99(3):207. doi: 10.1136/archdischild-2013-305300. Epub 2013 Dec 5. Arch Dis Child. 2014. PMID: 24311189 No abstract available.
Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy.
McClelland V, Cullup T, Bodi I, Ruddy D, Buj-Bello A, Biancalana V, Boehm J, Bitoun M, Miller O, Jan W, Menson E, Amaya L, Trounce J, Laporte J, Mohammed S, Sewry C, Raiman J, Jungbluth H. McClelland V, et al. Among authors: trounce j. Am J Med Genet A. 2010 Mar;152A(3):741-7. doi: 10.1002/ajmg.a.33296. Am J Med Genet A. 2010. PMID: 20186778
Cerebral aqueduct stenosis presenting with limb pain.
Gallagher AC, Trounce JQ. Gallagher AC, et al. Among authors: trounce jq. Dev Med Child Neurol. 1998 May;40(5):349-51. doi: 10.1111/j.1469-8749.1998.tb15388.x. Dev Med Child Neurol. 1998. PMID: 9630264 Free article.
117 results