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2019 | 1 |
2022 | 1 |
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Page 1
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Mov Disord. 2023 Oct;38(10):1950-1956. doi: 10.1002/mds.29560. Epub 2023 Jul 20.
Mov Disord. 2023.
PMID: 37470282
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: wandzel m.
Sci Rep. 2023 Jun 15;13(1):9737. doi: 10.1038/s41598-023-36654-8.
Sci Rep. 2023.
PMID: 37322040
Free PMC article.
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Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A.
Méreaux JL, et al. Among authors: wandzel m.
EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27.
EBioMedicine. 2024.
PMID: 38150853
Free PMC article.
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A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locus.
Pellerin D, Gobbo GD, Couse M, Dolzhenko E, Dicaire MJ, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Lamont PJ, Laing NG, Renaud M, Ravenscroft G, Houlden H, Synofzik M, Eberle MA, Boycott KM, Pastinen T; All of Us Long Reads Working Group; Brais B, Zuchner S, Danzi MC.
Pellerin D, et al. Among authors: wandzel m.
bioRxiv [Preprint]. 2023 Jun 30:2023.05.11.540430. doi: 10.1101/2023.05.11.540430.
bioRxiv. 2023.
PMID: 37425777
Free PMC article.
Preprint.
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Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".
Pellerin D, Iruzubieta P, Tekgül Ş, Danzi MC, Ashton C, Dicaire MJ, Wandzel M, Roth V, Lamont PJ, Bonnet C, Renaud M, Synofzik M, Zuchner S, Brais B, Başak NA, Houlden H.
Pellerin D, et al. Among authors: wandzel m.
Mov Disord. 2023 Aug;38(8):1575-1577. doi: 10.1002/mds.29552.
Mov Disord. 2023.
PMID: 37565404
No abstract available.
Item in Clipboard
Global Burden Related to Nitrous Oxide Exposure in Medical and Recreational Settings: A Systematic Review and Individual Patient Data Meta-Analysis.
Oussalah A, Julien M, Levy J, Hajjar O, Franczak C, Stephan C, Laugel E, Wandzel M, Filhine-Tresarrieu P, Green R, Guéant JL.
Oussalah A, et al. Among authors: wandzel m.
J Clin Med. 2019 Apr 23;8(4):551. doi: 10.3390/jcm8040551.
J Clin Med. 2019.
PMID: 31018613
Free PMC article.
Review.
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First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.
Ravel JM, Comel M, Wandzel M, Bronner M, Tatopoulos A, Renaud M, Lambert L, Bursztejn AC, Bonnet C.
Ravel JM, et al. Among authors: wandzel m.
Am J Med Genet A. 2022 Nov;188(11):3343-3349. doi: 10.1002/ajmg.a.62954. Epub 2022 Aug 16.
Am J Med Genet A. 2022.
PMID: 35972031
Free PMC article.
Review.
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