Goizet, Cyril

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Moss, D. J. H., Pardiñas, A. F., Langbehn, D., Lo, K., Leavitt, B. R., Roos, R., Durr, A., Mead, S., Coleman, A., Santos, R. D., et al. (2017) · The Lancet Neurology

Genetic Neurodegenerative DiseasesGenetic Associations and Epidemiology

Cited by 312

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

Bettencourt, C., Hensman‐Moss, D., Flower, M., Wiethoff, S., Brice, A., Goizet, C., Stevanin, G., Koutsis, G., Karadima, G., Panas, M., et al. (2016) · Annals of Neurology

Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancer

Cited by 227

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Daoud, H., Tétreault, M., Gibson, W., Guerrero, K., Cohen, A., Gburek-Augustat, J., Synofzik, M., Brais, B., Stevens, C. A., Sanchez-Carpintero, R., et al. (2013) · Journal of Medical Genetics

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 106

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients

Ayrignac, X., Carra-Dalliere, C., Menjot de Champfleur, N., Denier, C., Aubourg, P., Bellesme, C., Castelnovo, G., Pelletier, J., Audoin, B., Kaphan, E., et al. (2015) · Brain

Cerebrovascular and genetic disordersMetabolism and Genetic Disorders

Cited by 74

ABCA7 rare variants and Alzheimer disease risk

Le Guennec, K., Nicolas, G., Quenez, O., Charbonnier, C., Wallon, D., Bellenguez, C., Grenier-Boley, B., Rousseau, S., Richard, A.-C., Rovelet-Lecrux, A., et al. (2016) · Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 69

Atypical hematologic and renal manifestations in Neurofibromatosis type I: Coincidence or pathophysiological link?

Van-Gils, J., Harambat, J., Jubert, C., Vidaud, D., Llanas, B., Perel, Y., Lacombe, D., & Goizet, C. (2014) · European Journal of Medical Genetics

Neurofibromatosis and Schwannoma CasesNeuroblastoma Research and Treatments

Cited by 6