1. ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia. (April 2018) Authors: Marelli, Cecilia; Hamel, Christian; Quiles, Melanie; Carlander, Bertrand; Larrieu, Lise; Delettre, Cecile; Sarzi, Emmanuelle; Chretien, Dominique; Rustin, Pierre; Koenig, Michel; Guissart, Claire Journal: Neurology Issue: Volume 4:Number 2(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?. (February 2018) Authors: Roubertie, Agathe; Hieu, Nelson; Roux, Charles-Joris; Leboucq, Nicolas; Manes, Gael; Charif, Majida; Echenne, Bernard; Goizet, Cyril; Guissart, Claire; Meyer, Pierre; Marelli, Cecilia; Rivier, François; Burglen, Lydie; Horvath, Rita; Hamel, Christian P.; Lenaers, Guy Journal: Neurology Issue: Volume 4:Number 1(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case. Issue 5 (3rd July 2022) Authors: De La Cruz, Elisa; Guissart, Claire; Esselin, Florence; Polge, Anne; Pageot, Nicolas; Taieb, Guillaume; Lumbroso, Serge; Camu, William; Mouzat, Kevin Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 23:Issue 5/6(2022) Page Start: 458 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Delayed‐onset Friedreich's ataxia revisited. Issue 1 (21st September 2015) Authors: Lecocq, Claire; Charles, Perrine; Azulay, Jean‐Philippe; Meissner, Wassilios; Rai, Myriam; N'Guyen, Karine; Péréon, Yann; Fabre, Nelly; Robin, Elsa; Courtois, Sylvie; Guyant‐Maréchal, Lucie; Zagnoli, Fabien; Rudolf, Gabrielle; Renaud, Mathilde; Sévin‐Allouet, Mathieu; Lesne, Fabien; Alaerts, Nick... Journal: Movement disorders Issue: Volume 31:Issue 1(2016) Page Start: 62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities. Issue 9 (30th March 2021) Authors: Muratet, François; Teyssou, Elisa; Chiot, Aude; Boillée, Séverine; Lobsiger, Christian S; Bohl, Delphine; Gyorgy, Beata; Guegan, Justine; Marie, Yannick; Amador, Maria del Mar; Salachas, Francois; Meininger, Vincent; Bernard, Emilien; Antoine, Jean-Christophe; Camdessanché, Jean-Philippe; Camu, W... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 92:Issue 9(2021) Page Start: 942 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mini‐Exome Coupled to Read‐Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. Issue 12 (2nd September 2016) Authors: Marelli, Cecilia; Guissart, Claire; Hubsch, Cecile; Renaud, Mathilde; Villemin, Jean‐Philippe; Larrieu, Lise; Charles, Perrine; Ayrignac, Xavier; Sacconi, Sabrina; Collignon, Patrick; Cuntz‐Shadfar, Danielle; Perrin, Laurine; Benarrosh, Anelia; Degardin, Adrian; Lagha‐Boukbiza, Ouhaïd; Mutez, Eug... Journal: Human mutation Issue: Volume 37:Issue 12(2016) Page Start: 1340 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Report of a Novel Mutation in CRB1 in a Lebanese Family Presenting Retinal Dystrophy. (March 2014) Authors: Jalkh, Nadine; Guissart, Claire; Chouery, Eliane; Yammine, Tony; Ali, Nagham El; Farah, Hanane Abi; Mégarbané, André Journal: Ophthalmic genetics Issue: Volume 35:Number 1(2014:Mar.) Page Start: 57 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. SCA13 causes dominantly inherited non-progressive myoclonus ataxia. (May 2017) Authors: Montaut, Solveig; Apartis, Emmanuelle; Chanson, Jean-Baptiste; Ewenczyk, Claire; Renaud, Mathilde; Guissart, Claire; Muller, Jean; Legrand, André Pierre; Durr, Alexandra; Laugel, Vincent; Koenig, Michel; Tranchant, Christine; Anheim, Mathieu Journal: Parkinsonism & related disorders Issue: Volume 38(2017) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Two neurologic facets of CTLA4-related haploinsufficiency. Issue 4 (July 2020) Authors: Ayrignac, Xavier; Goulabchand, Radjiv; Jeziorski, Eric; Rullier, Patricia; Carra-Dallière, Clarissa; Lozano, Claire; Portales, Pierre; Vincent, Thierry; Viallard, Jean François; Menjot de Champfleur, Nicolas; Rieux-Laucat, Frédéric; Besnard, Caroline; Koenig, Michel; Guissart, Claire; Labauge, Pi... Journal: Neurology Issue: Volume 7:Issue 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗