TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Edor Kabashi, Paul N. Valdmanis, Patrick A. Dion, +12

Nature Genetics

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisMendelian DisorderNeurological DisorderGenetic Disorder +8

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Suzanne Lesage, Valérie Drouet, Elisa Majounie, +212

The American Journal of Human Genetics

Cell AutophagyMitophagyMitochondrial FunctionGeneticsAutophagy +5

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

Edor Kabashi, Miranda L. Tradewell, Patrick A. Dion, +8

Human Molecular Genetics

Als-related MutationsMotor DysfunctionGeneticsMolecular BiologyZebrafish Embryos +14

Loss of C9 <scp>ORF</scp> 72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

Chantal Sellier, Maria‐Letizia Campanari, Camille Corbier, +8

The EMBO Journal

Cell AutophagyMitophagyNeurodegenerative DiseasesMolecular NeurosciencePolyq Ataxin‐2 +10

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis

Sorana Ciura, Serena Lattante, Isabelle Le Ber, +4

Annals of Neurology

Contribution of <i>TARDBP</i> mutations to sporadic amyotrophic lateral sclerosis

Hussein Daoud, Paul N. Valdmanis, Edor Kabashi, +5

Journal of Medical Genetics

FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis

Edor Kabashi, Valérie Bercier, Alexandra Lissouba, +4

PLoS Genetics

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Elodie Martin, Rebecca Schüle, Katrien Smets, +19

The American Journal of Human Genetics

Motor Neuron DefectsNeurological DisorderDegenerative DiseaseNeurologyNeuroscience +6

Focal dysfunction of the proteasome: a pathogenic factor in a mouse model of amyotrophic lateral sclerosis

Edor Kabashi, Jeffrey N. Agar, David Taylor, +2

Journal of Neurochemistry

Pharmacological reduction of ER stress protects against TDP-43 neuronal toxicity in vivo

Alexandra Vaccaro, Shunmoogum A. Patten, Dina Aggad, +5

Neurobiology of Disease

Er Stress ProtectsNeurophysiologyTdp-43 Neuronal ToxicityMedicinePharmacological Reduction +7