A new phenotype of choreic syndrome associating severe freezing of gait and chorea

Autor: Brice Laurens, Claire Delleci, Cyril Goizet, Umberto Spampinato, Pierre Burbaud, Etienne Guillaud, Emma Bestaven, Dominique Guehl

Publikováno v: Clinical Case Reports, Vol 8, Iss 9, Pp 1806-1808 (2020)

Abstract The early onset of gait akinesia should not rule out the diagnosis of hereditary chorea. It would be helpful to proceed to a whole‐genome and long‐read sequencing in order to track a new pathogenic variant including noncoding repeat expa

Externí odkaz: https://doaj.org/article/fb2300c750c94e3687211eaa84a82256

Sacral Anterior Root Stimulation (SARS) and visceral function outcomes in spinal cord injury - a systematic review of literature over four decades

Autor: Thomas Guiho, Christine Azevedo-Coste, David Guiraud, Claire Delleci, Jean-Rodolphe Vignes, Charles Fattal, Luc Bauchet

Publikováno v: World Neurosurgery
World Neurosurgery, 2021, ⟨10.1016/j.wneu.2021.09.041⟩
World Neurosurgery, Elsevier, 2021, ⟨10.1016/j.wneu.2021.09.041⟩

International audience; Study design: Systematic Review Objectives: The sacral anterior root stimulator (SARS) was developed 40 years ago to restore urinary and bowel functions to individuals with spinal cord injury (SCI). Mostly used to restore lowe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99295ccbe98783116d28d537113bc799
http://hdl.handle.net/20.500.12278/123901

Eur J Med Genet

Autor: Caroline Deiller, Hugues Loiseau, Thierry Fabre, Julie Tinat, Julien Van-Gils, Cécile Zordan, Béatrice Parfait, Cyril Goizet, Michel Vidaud, Claire Delleci, Joëlle Cohen

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2019, 62 (8), pp.103680. ⟨10.1016/j.ejmg.2019.103680⟩

Schwannomatosis is a rare affection predisposing to multiple peripheral neurologic tumors development. Approximatively, one third of patients with schwannomatosis are carriers of a germline mutation in LZTR1 (Leucin Zipper Transcription Regulator 1).

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55903198642728ca59c244e18ae8b0be
https://hal.archives-ouvertes.fr/hal-03209350/file/S1769721218308085.pdf

Longitudinal goal attainment with integrated upper limb spasticity management including repeat injections of botulinum toxin A: Findings from the prospective, observational Upper Limb International Spasticity (ULIS-III) cohort study

Autor: Turner-Stokes, Lynne, Jacinto, Jorge, Fheodoroff, Klemens, Brashear, Allison, Maisonobe, Pascal, Lysandropoulos, Andreas, Ashford, Stephen on behalf of the Upper Limb International Spasticity-III (ULIS-III) study group( Australia: Ian Baguley, Arun, Aggarwal, John, Olver, John, Estell, Steven, Faux, Edwin, Luk, Katya, Kotschet, Andrew, Hughes, Austria and Germany: Bernhard Haslinger, Rachael Nunan., Petra, Baum, Cornelia, Mobius, Urban, Fietzek, Brazil: Tae Mo Chung, Chi Wang Ip., Régina Helena Chueire, France: Alexis Schnitzler, Carla Heloisa Cabral Moro., Claire, Delleci, Anne-Laure, Ferrapie, Marie-Eve, Isner-Horobeti, Italy: Michela Cosma, Dominic Perennou. Hong Kong: Ching Man Leung., Carlo, Caltagirone, Manuela, Diverio, Girlanda, Paolo, Giancarlo, Ianeri, Marzia, Millevolte, Mexico: Jorge Hernandez Franco, Franco Molteni., Juan Francisco Gomez Hernandez, Sandra Quinones Aguilar, Philippines: Raymond Rosales, Laura Patricia De La Lanza Andrade., Poland: Dariusz Koziorowski, Jeanne Flordelis., Anna, Potulska, Portugal: Eduarda Afonso, Monika Rudzinska., Russia: Svetlana Khatkova, Ana Rolo Duarte., Alexey, Korenko, Dina, Khasanova, Dmitry, Okhabov, Elena, Arefyeva, Denis, Karpov, Taiwan: Yi-Chung Lee, Andrey Korolev., USA: Jessica Tate, Sen-Wei Tsai., Davis, Thomas L., Cynthia, Marciniak, Atul, Patel. ).

Publikováno v: Journal of Rehabilitation Medicine, Vol 53, Iss 2, p jrm00157 (2021)

Objective To assess the longitudinal effects of integrated spasticity management incorporating repeated cycles of botulinum toxin A type A (BoNT-A) over 2 years. Methods The Upper Limb International Spasticity study was a prospective, observational,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aa80cd3e19e5c7df14ab7b1010a329a
https://doi.org/10.2340/16501977-2801

Functional Selectivity of Lumbosacral Stimulation: Methodological Approach and Pilot Study to Assess Visceral Function in Pigs

Autor: David Guiraud, Claire Delleci, David Andreu, Thomas Guiho, Jean-Rodolphe Vignes, Luc Bauchet, Christine Azevedo-Coste

Publikováno v: IEEE Transactions on Neural Systems and Rehabilitation Engineering
IEEE Transactions on Neural Systems and Rehabilitation Engineering, Institute of Electrical and Electronics Engineers, 2018, 26 (11), pp.2165-2178. ⟨10.1109/TNSRE.2018.2871763⟩
IEEE Transactions on Neural Systems and Rehabilitation Engineering, 2018, 26 (11), pp.2165-2178. ⟨10.1109/TNSRE.2018.2871763⟩

International audience; Nearly all spinal cord injured (SCI) individuals lose bladder control and are prone to kidney complications if intermittent catheterization is not applied. Electrical stimulation (ES) of the sacral anterior roots with an impla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2ac203ccbb8806084448fc72036703a
https://pubmed.ncbi.nlm.nih.gov/30475704