Repurposing pentamidine using hyaluronic acid-based nanocarriers for skeletal muscle treatment in myotonic dystrophy

Authors: Repellin, Mathieu, Carton, Flavia, Boschi, Federico, Galiè, Mirco, Perduca, Massimiliano, Calderan, Laura, Jacquier, Arnaud, Carras, Julien, Schaeffer, Laurent, Briançon, Stéphanie, Lollo, Giovanna, Malatesta, Manuela

Source: In Nanomedicine: Nanotechnology, Biology, and Medicine January 2023 47

Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy

Authors: Jacquier, Arnaud, Ribault, Shams, Mendes, Michel, Lacoste, Nicolas, Risson, Valérie, Carras, Julien, Latour, Philippe, Nadaj‐Pakleza, Aleksandra, Stojkovic, Tanya, Schaeffer, Laurent

Source: Human mutation. 43(12):1898-1908

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168378955.0x000001&indx=1&recIds=ETOCvdc_100168378955.0x000001

Delivery of Prime editing in human stem cells using pseudoviral NanoScribes particles.

Authors: Halegua, Thibaut, Risson, Valérie, Carras, Julien, Rouyer, Martin, Coudert, Laurent, Jacquier, Arnaud, Schaeffer, Laurent, Ohlmann, Théophile, Mangeot, Philippe Emmanuel

Source: Nature Communications; 1/4/2025, Vol. 16, p1-12, 12p

Subject Terms: HUMAN stem cells, HEMATOPOIETIC stem cells, VIRUS-like particles, GENOME editing, MATHEMATICAL optimization

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.

Authors: Jacquier, Arnaud^1,2, Theuriet, Julian^1,3, Fontaine, Fanny⁴, Mosbach, Valentine¹, Lacoste, Nicolas¹, Ribault, Shams^1,5, Risson, Valérie¹, Carras, Julien¹, Coudert, Laurent¹, Simonet, Thomas¹, Latour, Philippe^1,6, Stojkovic, Tanya⁷, Piard, Juliette^8,9, Cosson, Anne¹⁰, Lesca, Gaëtan¹¹, Bouhour, Françoise^1,3, Allouche, Stéphane⁴, Puccio, Hélène¹, Pegat, Antoine^1,3, Schaeffer, Laurent^1,2, laurent.schaeffer@univ-lyon1.fr

Source: Brain: A Journal of Neurology; Aug2023, Vol. 146 Issue 8, p3470-3483, 14p

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.

Authors: Jacquier, Arnaud, Risson, Valérie, Simonet, Thomas, Roussange, Florine, Lacoste, Nicolas, Ribault, Shams, Carras, Julien, Theuriet, Julian, Girard, Emmanuelle, Grosjean, Isabelle, Le Goff, Laure, Kröger, Stephan, Meltoranta, Julia, Bauché, Stéphanie, Sternberg, Damien, Fournier, Emmanuel, Kostera-Pruszczyk, Anna, O'Connor, Emily, Eymard, Bruno, Lochmüller, Hanns

Source: Acta Neuropathologica; Oct2022, Vol. 144 Issue 4, p707-731, 25p

Subject Terms: MOTOR neurons, CONGENITAL myasthenic syndromes, UNFOLDED protein response, SPINAL muscular atrophy, SECRETION, INDUCED pluripotent stem cells

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