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

Jean‐Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, +20

The American Journal of Human Genetics

Synaptic PlasticityNeuromuscular JunctionMolecular NeuroscienceMolecular PhysiologySynaptic Transmission +13

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Martine Girard, Roxanne Larivière, David A. Parfitt, +14

Proceedings of the National Academy of Sciences

Pyramidal SpasticityNeurodegenerative DiseasesSacsin Knockout MiceMitochondrial FunctionMitochondrial Dysfunction +12

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay

Roxanne Larivière, Rébecca Gaudet, Benoît J. Gentil, +10

Human Molecular Genetics

Knockout MouseSacs GeneNeurodegenerative DiseasesPeripheral NeuropathyDevelopmental Biology +9

Restless legs syndrome‐associated <i>MEIS1</i> risk variant influences iron homeostasis

Hélène Catoire, Patrick A. Dion, Lan Xiong, +9

Annals of Neurology

Rls Risk HaplotypeSystems BiologyAutoimmune DiseaseDisease MechanismGenetic Disorder +13

Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/β-catenin pathway

Ayman AbuBaker, Janet Laganière, Rébecca Gaudet, +5

Cell Death and Disease

Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition

Kristopher T. Kahle, Jean-François Schmouth, Valérie Lavastre, +19

Science Signaling

Pain TherapyPain MedicineSynaptic TransmissionNeuropathic PainMolecular Pain +28

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models

Shawn J. Stochmanski, Martine Therrien, Janet Laganière, +10

Human Molecular Genetics

Sacs R272C missense homozygous mice develop an ataxia phenotype

Roxanne Larivière, Nicolas Sgarioto, Brenda Toscano Márquez, +5

Molecular Brain

Loss of Neuronal Potassium/Chloride Cotransporter 3 (KCC3) Is Responsible for the Degenerative Phenotype in a Conditional Mouse Model of Hereditary Motor and Sensory Neuropathy Associated with Agenesis of the Corpus Callosum

Masoud Shekarabi, Randal X. Moldrich, Sarah Rasheed, +13

Journal of Neuroscience

Hereditary MotorIon HomeostasisCorpus CallosumCellular NeurobiologyCellular Physiology +21

Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Adèle Salin‐Cantegrel, Jean‐Baptiste Rivière, Masoud Shekarabi, +10

Journal of Biological Chemistry