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Genetics

D-Index
65
Citations
16018
World Ranking
2700
National Ranking
90

Overview

Patrick A. Dion is affiliated with the Montreal Neurological Institute and Hospital in Canada.

Their research primarily spans the fields of Medicine, Biochemistry, Genetics and Molecular Biology, and Neuroscience. Within these areas, their work focuses on subfields such as Neurology, Genetics, Molecular Biology, Cellular and Molecular Neuroscience, and Cognitive Neuroscience.

The topics that Patrick A. Dion explores include Genetics and Neurodevelopmental Disorders, Amyotrophic Lateral Sclerosis Research, Neurogenetic and Muscular Disorders Research, Neurological disorders and treatments, Parkinson's Disease Mechanisms and Treatments, Neurological diseases and metabolism, and Genetic Neurodegenerative Diseases.

Frequent co-authors in their research collaborations are:

  • Guy A. Rouleau
  • Jay P. Ross
  • Calwing Liao
  • Dan Spiegelman
  • Fulya Akçimen

The most common publication venues for their work include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Journal of the Neurological Sciences
  • Movement Disorders
  • European Journal of Human Genetics
  • Nature Genetics

Notable recent papers authored or co-authored by Patrick A. Dion are:

  • Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology, 2021, Nature Genetics
  • Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS, 2022, Science Translational Medicine
  • Evolution of a Human-Specific Tandem Repeat Associated with ALS, 2020, The American Journal of Human Genetics
  • Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids, 2023, PLoS Genetics
  • Exome sequencing in genetic disease: recent advances and considerations, 2020, F1000Research

Best Publications

  • TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

    Edor Kabashi;Paul N Valdmanis;Patrick Dion;Dan Spiegelman

  • Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

    Elizabeth T. Cirulli;Brittany N Lasseigne;Slave Petrovski;Peter C Sapp

  • Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.

    Edor Kabashi;Li Lin;Miranda L. Tradewell;Patrick A. Dion

  • Increased exonic de novo mutation rate in individuals with schizophrenia

    Simon L Girard;Julie Gauthier;Anne Noreau;Lan Xiong

  • Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

    B N Smith;N Ticozzi;C Fallini;A S Gkazi

  • Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

    François Gros-Louis;Nicolas Dupré;Nicolas Dupré;Patrick Dion;Michael A Fox

  • Genetics of motor neuron disorders: new insights into pathogenic mechanisms

    Patrick A. Dion;Hussein Daoud;Guy A. Rouleau

  • NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

    Kevin P Kenna;Perry T C van Doormaal;Annelot M Dekker;Nicola Ticozzi

  • Genetic Perspective on the Role of the Autophagy-Lysosome Pathway in Parkinson Disease

    Ziv Gan-Or;Patrick A Dion;Guy A Rouleau

  • Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis

    Hussein Daoud;Paul N Valdmanis;Edor Kabashi;Patrick Dion

  • Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

    Paul N. Valdmanis;Inge A. Meijer;Annie Reynolds;Adrienne Lei

  • Mutations in DCC Cause Congenital Mirror Movements

    Myriam Srour;Jean-Baptiste Rivière;Jessica M. T. Pham;Marie-Pierre Dubé;Marie-Pierre Dubé

  • Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

    Nancy D. Merner;Simon L. Girard;Hélène Catoire;Cynthia V. Bourassa

  • Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans.

    Martine Therrien;Guy A. Rouleau;Patrick A. Dion;Patrick A. Dion;J. Alex Parker

  • KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

    Jean-Baptiste Rivière;Siriram Ramalingam;Valérie Lavastre;Masoud Shekarabi

  • CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

    Kelly L. Williams;Kelly L. Williams;Simon Topp;Shu Yang;Bradley Smith

  • Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

    Amir Boukhris;Amir Boukhris;Rebecca Schule;José L. Loureiro;Charles Marques Lourenço

  • Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

    Kristopher T Kahle;Nancy D Merner;Perrine Friedel;Liliya Silayeva

  • Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

    Wouter van Rheenen;Rick A. A. van der Spek;Mark K. Bakker;Joke J. F. A. van Vugt

  • Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Nicola Ticozzi

Frequent Co-Authors

Guy A. Rouleau
Guy A. Rouleau Montreal Neurological Institute and Hospital
Ziv Gan-Or
Ziv Gan-Or McGill University
Bernard Brais
Bernard Brais Montreal Neurological Institute and Hospital
Jacques Montplaisir
Jacques Montplaisir University of Montreal
Garth A. Nicholson
Garth A. Nicholson University of Sydney
Yves Dauvilliers
Yves Dauvilliers University of Montpellier
Ian P. Blair
Ian P. Blair Macquarie University
Michel Boivin
Michel Boivin Université Laval
John Landers
John Landers University of Massachusetts Chan Medical School
Christopher Shaw
Christopher Shaw King's College London

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