Dion, Patrick A.

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Kabashi, E., Valdmanis, P. N., Dion, P., Spiegelman, D., McConkey, B. J., Velde, C. V., Bouchard, J.-P., Lacomblez, L., Pochigaeva, K., Salachas, F., et al. (2008) · Nature Genetics

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 1,544

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., et al. (2015) · Science

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 966

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

van Rheenen, W., van der Spek, R. A. A., Bakker, M. K., van Vugt, J. J. F. A., Hop, P. J., Zwamborn, R. A. J., de Klein, N., Westra, H.-J., Bakker, O. B., Deelen, P., et al. (2021) · Nature Genetics

Amyotrophic Lateral Sclerosis ResearchGenetic Associations and Epidemiology

Cited by 542

Increased exonic de novo mutation rate in individuals with schizophrenia

Girard, S. L., Gauthier, J., Noreau, A., Xiong, L., Zhou, S., Jouan, L., Dionne-Laporte, A., Spiegelman, D., Henrion, E., Diallo, O., et al. (2011) · Nature Genetics

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

Cited by 438

Genetic perspective on the role of the autophagy-lysosome pathway in Parkinson disease

Gan-Or, Z., Dion, P. A., & Rouleau, G. A. (2015) · Autophagy

Parkinson's Disease Mechanisms and TreatmentsAutophagy in Disease and Therapy

Cited by 260

Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans

Therrien, M., Rouleau, G. A., Dion, P. A., & Parker, J. A. (2013) · PLoS ONE

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 183

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

Lesage, S., Le Ber, I., Condroyer, C., Broussolle, E., Gabelle, A., Thobois, S., Pasquier, F., Mondon, K., Dion, P. A., Rochefort, D., et al. (2013) · Brain

Parkinson's Disease Mechanisms and TreatmentsAmyotrophic Lateral Sclerosis Research

Cited by 164

A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors.

Duan, Q. L., Nikpoor, B., Dubé, M.-P., Molinaro, G., Meijer, I. A., Dion, P., Rochefort, D., Saint-Onge, J., Flury, L., Brown, N. J., et al. (2005) · The American Journal of Human Genetics

Coagulation, Bradykinin, Polyphosphates, and AngioedemaRenin-Angiotensin System Studies

Cited by 126

SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease

Alcalay, R. N., Mallett, V., Vanderperre, B., Tavassoly, O., Dauvilliers, Y., Wu, R. Y. J., Ruskey, J. A., Leblond, C. S., Ambalavanan, A., Laurent, S. B., et al. (2019) · Movement Disorders

Parkinson's Disease Mechanisms and TreatmentsLysosomal Storage Disorders Research

Cited by 110

Genome-wide association study in essential tremor identifies three new loci

Müller, S. H., Girard, S. L., Hopfner, F., Merner, N. D., Bourassa, C. V., Lorenz, D., Clark, L. N., Tittmann, L., Soto-Ortolaza, A. I., Klebe, S., et al. (2016) · Brain

Deep Brain Stimulation and Movement DisordersGenetic Associations and Epidemiology

Cited by 88

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia

Bourassa, C. V., Raskin, S., Serafini, S., Teive, H. A. G., Dion, P. A., & Rouleau, G. A. (2015) · JAMA Neurology

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 42

UBQLN2 mutations are rare in French and French–Canadian amyotrophic lateral sclerosis

Daoud, H., Suhail, H., Szuto, A., Camu, W., Salachas, F., Meininger, V., Bouchard, J.-P., Dupré, N., Dion, P. A., & Rouleau, G. A. (2012) · Neurobiology of Aging

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 42

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

Valdmanis, P. N., Dupré, N., Lachance, M., Stochmanski, S. J., Belzil, V. V., Dion, P. A., Thiffault, I., Brais, B., Weston, L., Saint-Amant, L., et al. (2011) · Brain

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

Cited by 37