1. Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients. Issue 2 (10th June 2020) Authors: Traschütz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; d... Journal: Annals of neurology Issue: Volume 88:Issue 2(2020) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease. Issue 4 (5th February 2021) Authors: Breza, Marianthi; Hirst, Jennifer; Chelban, Viorica; Banneau, Guillaume; Tissier, Laurène; Kol, Bophara; Bourinaris, Thomas; Said, Samia A.; Péréon, Yann; Heinzmann, Anna; Debs, Rabab; Juntas‐Morales, Raul; Martinez, Victoria G.; Camdessanche, Jean P.; Scherer‐Gagou, Clarisse; Zola, Jean‐Médard; ... Journal: Movement disorders Issue: Volume 36:Issue 4(2021) Page Start: 1034 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. F15 Clinical profile of small expansion carriers with 36–38 CAG HTT repeats: a multicentric retrospective study. (12th September 2022) Authors: Heinzmann, Anna; Sayah, Sabrina; Lejeune, Francois Xavier; Hahn, Valérie; Teichmann, Marc; Monin, Marie Lorraine; Marchionni, Enrica; Gérard, Fleur; Charles, Perrine; Pariente, Jérémie; Durr, Alexandra Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93(2022)Supplement 1 Page Start: A41 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. G01 Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities. (12th September 2022) Authors: Pierron, Lucie; Tezenas du Montcel, Sophie; Heinzmann, Anna; Coarelli, Giulia; Héron, Delphine; Heide, Solveig; Herson, Ariane; Hennessy, Juliette; Petit, Elodie; Gargiulo, Marcela; Durr, Alexandra Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93(2022)Supplement 1 Page Start: A62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. H61 Representations about end of life discussions in patients with neurogenetic diseases and their casegivers: diragene study. (12th September 2022) Authors: Dorsemans, Anne-Claire; Coarelli, Giulia; Heinzmann, Anna; Durr, Alexandra; Gargiulo, Marcela; Ewenczyk, Claire Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93(2022)Supplement 1 Page Start: A84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial. Issue 3 (March 2022) Authors: Coarelli, Giulia; Heinzmann, Anna; Ewenczyk, Claire; Fischer, Clara; Chupin, Marie; Monin, Marie-Lorraine; Hurmic, Hortense; Calvas, Fabienne; Calvas, Patrick; Goizet, Cyril; Thobois, Stéphane; Anheim, Mathieu; Nguyen, Karine; Devos, David; Verny, Christophe; Ricigliano, Vito A G; Mangin, Jean-Fr... Journal: Lancet neurology Issue: Volume 21:Issue 3(2022) Page Start: 225 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗