1. Brody myopathy demonstrates a pseudo‐increment on repetitive nerve stimulation. Issue 4 (22nd January 2020) Authors: Masingue, Marion; Arzel, Marianne; Sternberg, Damien; Stojkovic, Tanya; Behin, Anthony; Bassez, Guillaume; Vicart, Savine; Péréon, Yann; Magot, Armelle; Kuntzer, Thierry; Eymard, Bruno; Fournier, Emmanuel Journal: Muscle & nerve Issue: Volume 61:Issue 4(2020) Page Start: 491 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Deep phenotyping of an international series of patients with late‐onset dysferlinopathy. (1st April 2021) Authors: Fernández‐Eulate, Gorka; Querin, Giorgia; Moore, Ursula; Behin, Anthony; Masingue, Marion; Bassez, Guillaume; Leonard‐Louis, Sarah; Laforêt, Pascal; Maisonobe, Thierry; Merle, Philippe‐Edouard; Spinazzi, Marco; Solé, Guilhem; Kuntzer, Thierry; Bedat‐Millet, Anne‐Laure; Salort‐Campana, Emmanuelle;... Journal: European journal of neurology Issue: Volume 28:Number 6(2021) Page Start: 2092 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment. Issue 1 (December 2017) Authors: Masingue, Marion; Adanyeguh, Isaac; Nadjar, Yann; Sedel, Frédéric; Galanaud, Damien; Mochel, Fanny Journal: Orphanet journal of rare diseases Issue: Volume 12:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genotype–phenotype correlation in French patients with myelin protein zero gene‐related inherited neuropathy. (29th June 2021) Authors: Subréville, Marie; Bonello‐Palot, Nathalie; Yahiaoui, Douniazed; Beloribi‐Djefaflia, Sadia; Fernandes, Sara; Stojkovic, Tanya; Cassereau, Julien; Péréon, Yann; Echaniz‐Laguna, Andoni; Violleau, Marie‐Hélène; Soulages, Antoine; Louis, Sarah Léonard; Masingue, Marion; Magot, Armelle; Delmont, Emili... Journal: European journal of neurology Issue: Volume 28:Number 9(2021) Page Start: 2913 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Natural History of Adult Patients with GM2 Gangliosidosis. Issue 4 (7th February 2020) Authors: Masingue, Marion; Dufour, Louis; Lenglet, Timothée; Saleille, Lisa; Goizet, Cyril; Ayrignac, Xavier; Ory‐Magne, Fabienne; Barth, Magali; Lamari, Foudil; Mandia, Daniele; Caillaud, Catherine; Nadjar, Yann Journal: Annals of neurology Issue: Volume 87:Issue 4(2020) Page Start: 609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study. Issue 5 (May 2023) Authors: Bril, Vera; Drużdż, Artur; Grosskreutz, Julian; Habib, Ali A; Mantegazza, Renato; Sacconi, Sabrina; Utsugisawa, Kimiaki; Vissing, John; Vu, Tuan; Boehnlein, Marion; Bozorg, Ali; Gayfieva, Maryam; Greve, Bernhard; Woltering, Franz; Kaminski, Henry J; Genge, Angela; Massie, Rami; Berube, Maxime; Br... Journal: Lancet neurology Issue: Volume 22:Issue 5(2023) Page Start: 383 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes. Issue 5 (20th March 2018) Authors: Amador, Maria del Mar; Masingue, Marion; Debs, Rabab; Lamari, Foudil; Perlbarg, Vincent; Roze, Emmanuel; Degos, Bertrand; Mochel, Fanny Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 5(2018) Page Start: 799 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Whole‐Body Muscle Magnetic Resonance Imaging in Glycogen‐Storage Disease Type III. Issue 1 (24th April 2019) Authors: Tobaly, David; Laforêt, Pascal; Perry, Ariane; Habes, Dalila; Labrune, Philippe; Decostre, Valerie; Masingue, Marion; Petit, Francois; Barp, Andrea; Bello, Luca; Carlier, Pierre; Carlier, Robert‐Yves Journal: Muscle & nerve Issue: Volume 60:Issue 1(2019) Page Start: 72 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗