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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C. Marsh AP, et al. Among authors: robinson ga. Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250454 Free PMC article.
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW; IRC5 Consortium; Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ. Marsh APL, et al. Hum Mutat. 2018 Jan;39(1):23-39. doi: 10.1002/humu.23361. Epub 2017 Nov 11. Hum Mutat. 2018. PMID: 29068161 Free PMC article. Review.
Patient with ALS with a novel TBK1 mutation, widespread brain involvement, behaviour changes and metabolic dysfunction.
McCombe PA, Ngo ST, Guo CC, Fazlollahi A, Bollmann S, Wang L, Hu X, Barth M, Salvado O, Davis M, Ceslis A, Robinson G, Henderson RD, Steyn FJ. McCombe PA, et al. J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):952-954. doi: 10.1136/jnnp-2018-318823. Epub 2018 Sep 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30196251 Free PMC article. No abstract available.
226 results