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Page 1
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.
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G, Pujol C, Lacombe D, Durr A, Babin PJ, Santorelli FM, Pietrancosta N, Boucher JL, Mansuy D, Stevanin G, Goizet C. Durand CM, et al. Among authors: banneau g. Hum Mutat. 2018 Jan;39(1):140-151. doi: 10.1002/humu.23359. Epub 2017 Nov 11. Hum Mutat. 2018. PMID: 29034544 Free article.
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.
Marelli C, Lamari F, Rainteau D, Lafourcade A, Banneau G, Humbert L, Monin ML, Petit E, Debs R, Castelnovo G, Ollagnon E, Lavie J, Pilliod J, Coupry I, Babin PJ, Guissart C, Benyounes I, Ullmann U, Lesca G, Thauvin-Robinet C, Labauge P, Odent S, Ewenczyk C, Wolf C, Stevanin G, Hajage D, Durr A, Goizet C, Mochel F. Marelli C, et al. Among authors: banneau g. Brain. 2018 Jan 1;141(1):72-84. doi: 10.1093/brain/awx297. Brain. 2018. PMID: 29228183 Clinical Trial.
An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.
Trimouille A, Obre É, Banneau G, Durr A, Stevanin G, Clot F, Pennamen P, Perez JT, Bailly-Scappaticci C, Rouanet M, Delleci C, Sole G, Mathis S, Goizet C. Trimouille A, et al. Among authors: banneau g. Clin Neurol Neurosurg. 2018 Mar;166:1-3. doi: 10.1016/j.clineuro.2018.01.013. Epub 2018 Jan 30. Clin Neurol Neurosurg. 2018. PMID: 29353221 No abstract available.
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Parodi L, Fenu S, Barbier M, Banneau G, Duyckaerts C, Tezenas du Montcel S, Monin ML, Ait Said S, Guegan J, Tallaksen CME, Sablonniere B, Brice A, Stevanin G, Depienne C, Durr A; SPATAX network. Parodi L, et al. Among authors: banneau g. Brain. 2018 Dec 1;141(12):3331-3342. doi: 10.1093/brain/awy285. Brain. 2018. PMID: 30476002
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A. Coarelli G, et al. Among authors: banneau g. Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8. Neurology. 2019. PMID: 31068484 Free PMC article.
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS.
Amador MD, Muratet F, Teyssou E, Banneau G, Danel-Brunaud V, Allart E, Antoine JC, Camdessanché JP, Anheim M, Rudolf G, Tranchant C, Fleury MC, Bernard E, Stevanin G, Millecamps S. Amador MD, et al. Among authors: banneau g. Neurol Genet. 2019 Nov 13;5(6):e374. doi: 10.1212/NXG.0000000000000374. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042907 Free PMC article.
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network. Roux T, et al. Genet Med. 2020 Nov;22(11):1851-1862. doi: 10.1038/s41436-020-0899-x. Epub 2020 Jul 27. Genet Med. 2020. PMID: 32713943 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: banneau g. 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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