-
Méreaux, J-L, Davoine, C-S, Pellerin, D, Coarelli, G, Coutelier, M, Ewenczyk, C, Monin, M-L, Anheim, M, Le Ber, I, Thobois, S, et al.
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions..
EBioMedicine
99:
104931
2024
view publication
-
Mohren, L, Erdlenbruch, F, Leitão, E, Kilpert, F, Hönes, GS, Kaya, S, Schröder, C, Thieme, A, Sturm, M, Park, J, et al.
Advancing molecular, phenotypic and mechanistic insights of FGF14 pathogenic expansions (SCA27B).
2024
view publication
-
Spyrou, J, Aung, KP, Vanyai, H, Leventer, RJ, Maljevic, S, Lockhart, PJ, Howell, KB, Reid, CA.
Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing in the developing brain.
2024
view publication
-
Kooshavar, D, Amor, DJ, Boggs, K, Baker, N, Barnett, C, de Silva, MG, Edwards, S, Fahey, MC, Marum, JE, Snell, P, et al.
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations..
Brain Commun
6(2)
:
fcae056
2024
view publication
-
Rafehi, H, Fearnley, LG, Read, J, Snell, P, Davies, KC, Scott, L, Gillies, G, Thompson, GC, Field, TA, Eldo, A, et al.
Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.
2024
view publication