Search

Your search keyword '"Banneau, Guillaume"' showing total 4 results
Start Over Author "Banneau, Guillaume" Journal movement disorders
4 results on '"Banneau, Guillaume"'

1. Expanding the Spectrum ofAP5Z1‐Related Hereditary Spastic Paraplegia ( HSP‐SPG48 ): A Multicenter Study on a Rare Disease

Author

Breza, Marianthi, primary, Hirst, Jennifer, additional, Chelban, Viorica, additional, Banneau, Guillaume, additional, Tissier, Laurène, additional, Kol, Bophara, additional, Bourinaris, Thomas, additional, Said, Samia A., additional, Péréon, Yann, additional, Heinzmann, Anna, additional, Debs, Rabab, additional, Juntas‐Morales, Raul, additional, Martinez, Victoria G., additional, Camdessanche, Jean P., additional, Scherer‐Gagou, Clarisse, additional, Zola, Jean‐Médard, additional, Athanasiou‐Fragkouli, Alkyoni, additional, Efthymiou, Stephanie, additional, Vavougios, George, additional, Velonakis, Georgios, additional, Stamelou, Maria, additional, Tzartos, John, additional, Potagas, Constantin, additional, Zambelis, Thomas, additional, Mariotti, Caterina, additional, Blackstone, Craig, additional, Vandrovcova, Jana, additional, Mavridis, Theodoros, additional, Kartanou, Chrisoula, additional, Stefanis, Leonidas, additional, Wood, Nicholas, additional, Karadima, Georgia, additional, LeGuern, Eric, additional, Koutsis, Georgios, additional, Houlden, Henry, additional, and Stevanin, Giovanni, additional

Published
2021
Full Text
View/download PDF

3. Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease.

Author

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, Athanasiou‐Fragkouli, Alkyoni, Efthymiou, Stephanie, Vavougios, George, and Velonakis, Georgios

Published
2021
Full Text
View/download PDF

4. RNF170‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.

Author

Sainte Agathe, Jean‐Madeleine, Mercier, Sandra, Mahé, Jean‐Yves, Péréon, Yann, Buratti, Julien, Tissier, Laurène, Kol, Bophara, Said, Samia Ait, Leguern, Éric, Banneau, Guillaume, and Stévanin, Giovanni

Abstract

Background: Spastic paraparesis and biallelic variants functionally characterized as deleterious in the RNF170 gene have recently been reported by Wagner et al. 2019, strongly supporting the involvement of this gene in hereditary spastic paraplegia. Methods: Exome sequencing was performed on 6 hereditary spastic paraplegia families previously tested on an hereditary spastic paraplegia–specific panel. Results: We describe here a novel hereditary spastic paraplegia family with 4 affected members carrying a homozygous p.(Tyr114*) stop gain variant in RNF170. Conclusions: We confirm the involvement of biallelic truncating variants in RNF170 in a novel form of hereditary spastic paraplegia. © 2020 International Parkinson and Movement Disorder Society [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results