PMC Links for OMIM (Select 193003) - PMC

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Items: 5

Select item 101238661.

Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27

M. Paucar, J. Lundin, T. Alshammari, Å. Bergendal, M. Lindefeldt, M. Alshammari, G. Solders, J. Di Re, I. Savitcheva, T. Granberg, F. Laezza, E. Iwarsson, P. Svenningsson

J Intern Med. Author manuscript; available in PMC 2023 Apr 24.

Published in final edited form as: J Intern Med. 2020 Jul; 288(1): 103–115. Published online 2020 Mar 19. doi: 10.1111/joim.13052

PMCID:: PMC10123866

Abstract Article PDF–2.0M

Select item 99954942.

Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia

Fabiola Ceroni, Daniel Osborne, Samuel Clokie, Dorine A. Bax, Emma J. Cassidy, Matt J. Dunn, Christopher M. Harris, Jay E. Self, Nicola K. Ragge

Eur J Hum Genet. 2023 Mar; 31(3): 353–359. Published online 2022 Oct 7. doi: 10.1038/s41431-022-01197-5

PMCID:: PMC9995494

Abstract Article PDF–1.2M

Select item 71877153.

Julie Piarroux, Florence Riant, Véronique Humbertclaude, Ganaelle Remerand, Jessica Hadjadj, Franck Rejou, Christine Coubes, Lucile Pinson, Pierre Meyer, Agathe Roubertie

Ann Clin Transl Neurol. 2020 Apr; 7(4): 565–572. Published online 2020 Mar 12. doi: 10.1002/acn3.51005

PMCID:: PMC7187715

Abstract Article PDF–193K

Select item 17352584.

Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus

N Ragge, C Hartley, A Dearlove, J Walker, I Russell-Eggitt, C Harris

J Med Genet. 2003 Jan; 40(1): 37–41. doi: 10.1136/jmg.40.1.37

PMCID:: PMC1735258

Summary PDF–189K

Select item 3786255.

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

John C. van Swieten, Esther Brusse, Bianca M. de Graaf, Elmar Krieger, Raoul van de Graaf, Inge de Koning, Anneke Maat-Kievit, Peter Leegwater, Dennis Dooijes, Ben A. Oostra, Peter Heutink

Am J Hum Genet. 2003 Jan; 72(1): 191–199. Published online 2002 Dec 13. doi: 10.1086/345488