Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H

Valérie Delague, Arnaud Jacquier, Tarik Hamadouche, +11

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsMolecular BiologyMolecular Genetics +2

PlexinA1 is a new Slit receptor and mediates axon guidance function of Slit C-terminal fragments

Céline Delloye‐Bourgeois, Arnaud Jacquier, Camille Charoy, +11

Nature Neuroscience

New Slit ReceptorMolecular NeuroscienceDevelopmental BiologySignal TransductionSlit C-terminal Fragments +9

Chronic activation in presymptomatic amyotrophic lateral sclerosis (ALS) mice of a feedback loop involving Fas, Daxx, and FasL

Cédric Raoul, Emmanuelle Buhler, C. Sadeghi, +5

Proceedings of the National Academy of Sciences

Neurological DisorderNitric OxideApoptosisControl MotoneuronsCell Death +17

Alsin/Rac1 signaling controls survival and growth of spinal motoneurons

Arnaud Jacquier, Emmanuelle Buhler, Michael K. E. Schäfer, +4

Annals of Neurology

NeurogenomicsAlsin Knock‐out MiceSpinal MotoneuronsCellular NeurobiologySynaptic Signaling +18

Systematic elucidation of neuron-astrocyte interaction in models of amyotrophic lateral sclerosis using multi-modal integrated bioinformatics workflow

Vartika Mishra, Diane B. Ré, Virginia Le Verche, +19

Nature Communications

The Regulatory Machinery of Neurodegeneration in In Vitro Models of Amyotrophic Lateral Sclerosis

Burcin Ikiz, Mariano J. Alvarez, Diane B. Ré, +11

Cell Reports

Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies

Shingo Kariya, Diane B. Ré, Arnaud Jacquier, +3

Human Molecular Genetics

Molecular BiologyMutant Superoxide Dismutase-1Redox BiologyOxidative StressProtein Misfolding +15

Novel combinatorial screening identifies neurotrophic factors for selective classes of motor neurons

Sébastien Schaller, Dorothée Buttigieg, Alysson Alory, +6

Proceedings of the National Academy of Sciences

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death

Arnaud Jacquier, Cécile Delorme, Edwige Belotti, +12

Acta Neuropathologica Communications

Homozygous <i>COQ7</i> mutation: a new cause of potentially treatable distal hereditary motor neuropathy

Arnaud Jacquier, Julian Theuriet, Fanny Fontaine, +17

Brain