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Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Brain. 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386.
Brain. 2022.
PMID: 34983064
Free article.
RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.
de Sainte Agathe JM, Mercier S, Mahé JY, Péréon Y, Buratti J, Tissier L, Kol B, Said SA, Leguern É, Banneau G, Stévanin G.
de Sainte Agathe JM, et al. Among authors: tissier l.
Mov Disord. 2021 Mar;36(3):771-774. doi: 10.1002/mds.28371. Epub 2020 Nov 9.
Mov Disord. 2021.
PMID: 33165979
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Evidence of mosaicism in SPAST variant carriers in four French families.
Angelini C, Goizet C, Said SA, Camu W, Depienne C, Heron B, Kol B, Guillaud-Bataille M, Pennamen P, Rooryck C, Scherer-Gagou C, Tissier L, Stevanin G, Leguern E, Banneau G.
Angelini C, et al. Among authors: tissier l.
Eur J Hum Genet. 2021 Jul;29(7):1158-1163. doi: 10.1038/s41431-021-00847-4. Epub 2021 May 6.
Eur J Hum Genet. 2021.
PMID: 33958741
Free PMC article.
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Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Breza M, Hirst J, Chelban V, Banneau G, Tissier L, Kol B, Bourinaris T, Said SA, Péréon Y, Heinzmann A, Debs R, Juntas-Morales R, Martinez VG, Camdessanche JP, Scherer-Gagou C, Zola JM, Athanasiou-Fragkouli A, Efthymiou S, Vavougios G, Velonakis G, Stamelou M, Tzartos J, Potagas C, Zambelis T, Mariotti C, Blackstone C, Vandrovcova J, Mavridis T, Kartanou C, Stefanis L, Wood N, Karadima G, LeGuern E, Koutsis G, Houlden H, Stevanin G.
Breza M, et al. Among authors: tissier l.
Mov Disord. 2021 Apr;36(4):1034-1038. doi: 10.1002/mds.28487. Epub 2021 Feb 5.
Mov Disord. 2021.
PMID: 33543803
No abstract available.
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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 A, Ravel JM, Lambert L, Bonnet C, Banneau G, Kol B, Tissier L, Hopes L, Meyer M, Dillier C, Michaud M, Lardin A, Kaminsky AL, Schmitt E, Liao L, Zhu F, Myriam B, Bossenmeyer-Pourié C, Verger A, Renaud M.
Hocquel A, et al. Among authors: tissier l.
Neurogenetics. 2022 Oct;23(4):241-255. doi: 10.1007/s10048-022-00695-4. Epub 2022 Jul 5.
Neurogenetics. 2022.
PMID: 35788923
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Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease.
Cogan G, Daida K, Billingsley KJ, Tesson C, Forlani S, Jornea L, Arnaud L, Tissier L, LeGuern E, Singleton AB, Ferrien M, Gervais Bernard H, Lesage S, Blauwendraat C, Brice A.
Cogan G, et al. Among authors: tissier l.
medRxiv [Preprint]. 2024 May 3:2024.05.02.24306523. doi: 10.1101/2024.05.02.24306523.
medRxiv. 2024.
PMID: 38746197
Free PMC article.
Preprint.
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