Evidence of mosaicism in SPAST variant carriers in four French families
Angelini, Chloé, Goizet, Cyril, Said, Samia Ait, Camu, William, Depienne, Christel, Heron, Bénédicte, Kol, Bophara, Guillaud-Bataille, Marine, Pennamen, Perrine, Rooryck, Caroline, Scherer-Gagou, Clarisse, Tissier, Laurène, Stevanin, Giovanni, Leguern, Eric, Banneau, Guillaume
Published in European journal of human genetics : EJHG (01.07.2021)
Published in European journal of human genetics : EJHG (01.07.2021)
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Journal Article
Expanding the Spectrum of AP5Z1‐Related Hereditary Spastic Paraplegia (HSP‐SPG48): A Multicenter Study on a Rare Disease
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, Velonakis, Georgios, Stamelou, Maria, Tzartos, John, Potagas, Constantin, Zambelis, Thomas, Mariotti, Caterina, Blackstone, Craig, Vandrovcova, Jana, Mavridis, Theodoros, Kartanou, Chrisoula, Stefanis, Leonidas, Wood, Nicholas, Karadima, Georgia, LeGuern, Eric, Koutsis, Georgios, Houlden, Henry, Stevanin, Giovanni
Published in Movement disorders (01.04.2021)
Published in Movement disorders (01.04.2021)
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Journal Article
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
Méreaux, Jean-Loup, Banneau, Guillaume, Papin, Mélanie, Coarelli, Giulia, Valter, Rémi, Raymond, Laure, Kol, Bophara, Ariste, Olivier, Parodi, Livia, Tissier, Laurène, Mairey, Mathilde, Ait Said, Samia, Gautier, Celia, Guillaud-Bataille, Marine, Forlani, Sylvie, de la Grange, Pierre, Brice, Alexis, Vazza, Giovanni, Durr, Alexandra, Leguern, Eric, Stevanin, Giovanni
Published in Brain (London, England : 1878) (29.04.2022)
Published in Brain (London, England : 1878) (29.04.2022)
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Journal Article
Long‐Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early‐Onset Parkinson's Disease
Cogan, Guillaume, Daida, Kensuke, Billingsley, Kimberley J., Tesson, Christelle, Forlani, Sylvie, Jornea, Ludmila, Arnaud, Lionel, Tissier, Laurène, LeGuern, Eric, Singleton, Andrew B., Ferrien, Mélanie, Bernard, Hélène Gervais, Lesage, Suzanne, Blauwendraat, Cornelis, Brice, Alexis
Published in Movement disorders (01.09.2024)
Published in Movement disorders (01.09.2024)
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Journal Article
RNF170‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation
Sainte Agathe, Jean‐Madeleine, Mercier, Sandra, Mahé, Jean‐Yves, Péréon, Yann, Buratti, Julien, Tissier, Laurène, Kol, Bophara, Said, Samia Ait, Leguern, Éric, Banneau, Guillaume, Stévanin, Giovanni
Published in Movement disorders (01.03.2021)
Published in Movement disorders (01.03.2021)
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Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET
Hocquel, Armand, Ravel, Jean-Marie, Lambert, Laetitia, Bonnet, Céline, Banneau, Guillaume, Kol, Bophara, Tissier, Laurène, Hopes, Lucie, Meyer, Mylène, Dillier, Céline, Michaud, Maud, Lardin, Arnaud, Kaminsky, Anne-Laure, Schmitt, Emmanuelle, Liao, Liang, Zhu, François, Myriam, Bronner, Bossenmeyer-Pourié, Carine, Verger, Antoine, Renaud, Mathilde
Published in Neurogenetics (01.10.2022)
Published in Neurogenetics (01.10.2022)
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Journal Article
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease
Cogan, Guillaume, Daida, Kensuke, Billingsley, Kimberley J, Tesson, Christelle, Forlani, Sylvie, Jornea, Ludmila, Arnaud, Lionel, Tissier, Laurene, LeGuern, Eric, Singleton, Andrew B, Ferrien, Mélanie, Gervais Bernard, Hélène, Lesage, Suzanne, Blauwendraat, Cornelis, Brice, Alexis
Published in medRxiv : the preprint server for health sciences (03.05.2024)
Published in medRxiv : the preprint server for health sciences (03.05.2024)
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