| 1 | CAMTA1, CANPMR |
| Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. | |
| Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Béri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C. | |
| J Med Genet 49(6):400-8. doi: 10.1136/jmedgenet-2012-100856. 2012 | |