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Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.
Bonnet C, Pellerin D, Roth V, Clément G, Wandzel M, Lambert L, Frismand S, Douarinou M, Grosset A, Bekkour I, Weber F, Girardier F, Robin C, Cacciatore S, Bronner M, Pourié C, Dreumont N, Puisieux S, Iruzubieta P, Dicaire MJ, Evoy F, Rioux MF, Hocquel A, La Piana R, Synofzik M, Houlden H, Danzi MC, Zuchner S, Brais B, Renaud M. Bonnet C, et al. Among authors: la piana r. Sci Rep. 2023 Jun 15;13(1):9737. doi: 10.1038/s41598-023-36654-8. Sci Rep. 2023. PMID: 37322040 Free PMC article.
White matter abnormalities in 15 subjects with SPG76.
Alkhalifa A, Chen S, Hasiloglu ZI, Filosto M, Cali E, Houlden H, Sgobbi de Souza P, Alavi A, Goizet C, Stevanin G, Taithe F, Nicita F, Vasco G, Tozza S, Cocozza S, Carboni N, Figus A, Wu J, Basak AN, Brais B, Rouleau G, La Piana R. Alkhalifa A, et al. Among authors: la piana r. J Neurol. 2023 Dec;270(12):5784-5792. doi: 10.1007/s00415-023-11918-5. Epub 2023 Aug 14. J Neurol. 2023. PMID: 37578488
Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.
Chen S, Ashton C, Sakalla R, Clement G, Planel S, Bonnet C, Lamont P, Kulanthaivelu K, Nalini A, Houlden H, Duquette A, Dicaire MJ, Agudo PI, Martinez JR, de Lucas EM, Berjon RS, Ceberio JI, Indelicato E, Boesch S, Synofzik M, Bender B, Danzi MC, Zuchner S, Pellerin D, Brais B, Renaud M, La Piana R. Chen S, et al. Among authors: la piana r. medRxiv [Preprint]. 2024 May 16:2024.02.16.24302945. doi: 10.1101/2024.02.16.24302945. medRxiv. 2024. PMID: 38405699 Free PMC article. Preprint.
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
Scaravilli A, Negroni D, Senatore C, Ugga L, Cosottini M, Ricca I, Bender B, Traschütz A, Başak AN, Vural A, van de Warrenburg BP, Durr A, La Piana R, Timmann D; PROSPAX Consortium; Schüle R, Synofzik M, Santorelli FM, Cocozza S. Scaravilli A, et al. Among authors: la piana r. Mov Disord. 2024 Aug;39(8):1343-1351. doi: 10.1002/mds.29871. Epub 2024 Jun 7. Mov Disord. 2024. PMID: 38847051
Macrostructural Brain Abnormalities in Spinal Muscular Atrophy: A Case-Control Study.
Groulx-Boivin E, Oliveira-Carneiro A, Carlson H, Floer A, Kirton A, Mah J, Saint-Martin C, La Piana R, Oskoui M. Groulx-Boivin E, et al. Among authors: la piana r. Neurol Genet. 2024 Sep 20;10(5):e200193. doi: 10.1212/NXG.0000000000200193. eCollection 2024 Oct. Neurol Genet. 2024. PMID: 39308455 Free PMC article.
An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders.
Dorion MF, Casas D, Shlaifer I, Yaqubi M, Fleming P, Karpilovsky N, Chen CX, Nicouleau M, Piscopo VEC, MacDougall EJ, Alluli A, Goldsmith TM, Schneider A, Dorion S, Aprahamian N, MacDonald A, Thomas RA, Dudley RWR, Hall JA, Fon EA, Antel JP, Stratton JA, Durcan TM, La Piana R, Healy LM. Dorion MF, et al. Among authors: la piana r. Mol Neurodegener. 2024 Apr 5;19(1):31. doi: 10.1186/s13024-024-00723-x. Mol Neurodegener. 2024. PMID: 38576039 Free PMC article.
70 results