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Page 1
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.
Hamamie-Chaar A, Renaud M, Gençpinar P, Bruel AL, Philippe C, Maraval J, Racine C, Hadouiri N, Lambert L, Schmitt E, Banneau G, Hocquel A, Thauvin-Robinet C, Faivre L, Thomas Q. Hamamie-Chaar A, et al. Among authors: banneau g. J Neurol. 2024 Sep;271(9):6343-6348. doi: 10.1007/s00415-024-12565-0. Epub 2024 Jul 13. J Neurol. 2024. PMID: 39003427 Free PMC article.
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Thomas H, Alix T, Renard É, Renaud M, Wourms J, Zuily S, Leheup B, Geneviève D, Dreumont N, Schmitt E, Bronner M, Muller M, Divoux M, Wandzel M, Ravel JM, Dexheimer M, Becker A, Roth V, Willems M, Coubes C, Vieville G, Devillard F, Schaefer É, Baer S, Piton A, Gérard B, Vincent M, Nizon M, Cogné B, Ruaud L, Couque N, Putoux A, Edery P, Lesca G, Chatron N, Till M, Faivre L, Tran-Mau-Them F, Alessandri JL, Lebrun M, Quélin C, Odent S, Dubourg C, David V, Faoucher M, Mignot C, Keren B, Pisan É, Afenjar A, Julia S, Bieth É, Banneau G, Goldenberg A, Husson T, Campion D, Lecoquierre F, Nicolas G, Charbonnier C, De Saint Martin A, Naudion S, Degoutin M, Rondeau S, Michot C, Cormier-Daire V, Oussalah A, Pourié C, Lambert L, Bonnet C. Thomas H, et al. Among authors: banneau g. J Med Genet. 2024 Aug 29;61(9):878-885. doi: 10.1136/jmg-2024-110031. J Med Genet. 2024. PMID: 38937076
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.
Parodi L, Barbier M, Jacoupy M, Pujol C, Lejeune FX, Lallemant-Dudek P, Esteves T, Pennings M, Kamsteeg EJ, Guillaud-Bataille M, Banneau G, Coarelli G, Oumoussa BM, Fraidakis MJ, Stevanin G, Depienne C, van de Warrenburg B, Brice A, Durr A. Parodi L, et al. Among authors: banneau g. Genet Med. 2022 Nov;24(11):2308-2317. doi: 10.1016/j.gim.2022.07.023. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36056923 Free article.
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: banneau g. Neurogenetics. 2022 Oct;23(4):241-255. doi: 10.1007/s10048-022-00695-4. Epub 2022 Jul 5. Neurogenetics. 2022. PMID: 35788923
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network; Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G. Méreaux JL, et al. Among authors: banneau g. Brain. 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. Brain. 2022. PMID: 34983064 Free article.
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: banneau g. 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.
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: banneau g. 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.
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G. Méreaux JL, et al. Among authors: banneau g. Neurogenetics. 2021 Mar;22(1):71-79. doi: 10.1007/s10048-020-00633-2. Epub 2021 Jan 23. Neurogenetics. 2021. PMID: 33486633 Free PMC article.
26 results