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Year Number of Results
2009 2
2010 1
2012 1
2014 1
2015 1
2016 3
2017 1
2018 2
2019 1
2020 8
2021 5
2022 5
2023 4
2024 4

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34 results

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Page 1
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, Roth V, Wandzel M, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Tranchant C, Renaud M, Anheim M. Wirth T, et al. Among authors: calmels n. Mov Disord. 2023 Oct;38(10):1950-1956. doi: 10.1002/mds.29560. Epub 2023 Jul 20. Mov Disord. 2023. PMID: 37470282
Highlighting the Dystonic Phenotype Related to GNAO1.
Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, Drouot N, Rudolf G, Chelly J, Marks W, Burglen L, Demailly D, Coubes P, Castro-Jimenez M, Joriot S, Ghoumid J, Belin J, Faucheux JM, Blumkin L, Hull M, Parnes M, Ravelli C, Poulen G, Calmels N, Nemeth AH, Smith M, Barnicoat A, Ewenczyk C, Méneret A, Roze E, Keren B, Mignot C, Beroud C, Acosta F Jr, Nowak C, Wilson WG, Steel D, Capuano A, Vidailhet M, Lin JP, Tranchant C, Cif L, Doummar D, Anheim M. Wirth T, et al. Among authors: calmels n. Mov Disord. 2022 Jul;37(7):1547-1554. doi: 10.1002/mds.29074. Epub 2022 Jun 20. Mov Disord. 2022. PMID: 35722775 Free PMC article.
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Harrer P, Schalk A, Shimura M, Baer S, Calmels N, Spitz MA, Warde MA, Schaefer E, Kittke VMS, Dincer Y, Wagner M, Dzinovic I, Berutti R, Sato T, Shirakawa T, Okazaki Y, Murayama K, Oexle K, Prokisch H, Mall V, Melčák I, Winkelmann J, Zech M. Harrer P, et al. Among authors: calmels n. Ann Neurol. 2023 Feb;93(2):330-335. doi: 10.1002/ana.26544. Epub 2022 Nov 18. Ann Neurol. 2023. PMID: 36333996
Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study.
Bogdan T, Wirth T, Iosif A, Schalk A, Montaut S, Bonnard C, Carre G, Lagha-Boukbiza O, Reschwein C, Albugues E, Demuth S, Landsberger H, Einsiedler M, Parratte T, Nguyen A, Lamy F, Durand H, Fahrer P, Voulleminot P, Bigaut K, Chanson JB, Nicolas G, Chelly J, Cazeneuve C, Koenig M, Bund C, Namer IJ, Kremer S, Calmels N, Tranchant C, Anheim M. Bogdan T, et al. Among authors: calmels n. J Neurol. 2022 Dec;269(12):6354-6365. doi: 10.1007/s00415-022-11253-1. Epub 2022 Jul 23. J Neurol. 2022. PMID: 35869996
Renal disease in Cockayne syndrome.
Stern-Delfils A, Spitz MA, Durand M, Obringer C, Calmels N, Olagne J, Pillay K, Fieggen K, Laugel V, Zaloszyc A. Stern-Delfils A, et al. Among authors: calmels n. Eur J Med Genet. 2020 Jan;63(1):103612. doi: 10.1016/j.ejmg.2019.01.002. Epub 2019 Jan 7. Eur J Med Genet. 2020. PMID: 30630117
Diagnostic and severity scores for Cockayne syndrome.
Spitz MA, Severac F, Obringer C, Baer S, Le May N, Calmels N, Laugel V. Spitz MA, et al. Among authors: calmels n. Orphanet J Rare Dis. 2021 Feb 3;16(1):63. doi: 10.1186/s13023-021-01686-8. Orphanet J Rare Dis. 2021. PMID: 33536051 Free PMC article.
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.
Durand B, Stoetzel C, Schaefer E, Calmels N, Scheidecker S, Kempf N, De Melo C, Guilbert AS, Timbolschi D, Donato L, Astruc D, Sauer A, Antal MC, Dollfus H, El Chehadeh S. Durand B, et al. Among authors: calmels n. Eur J Med Genet. 2020 Apr;63(4):103857. doi: 10.1016/j.ejmg.2020.103857. Epub 2020 Jan 21. Eur J Med Genet. 2020. PMID: 31978614 Review.
Clinical and Mutation Spectra of Cockayne Syndrome in India.
Narayanan DL, Tuteja M, McIntyre AD, Hegele RA, Calmels N, Obringer C, Laugel V, Mandal K, Phadke SR. Narayanan DL, et al. Among authors: calmels n. Neurol India. 2021 Mar-Apr;69(2):362-366. doi: 10.4103/0028-3886.314579. Neurol India. 2021. PMID: 33904453 Free article.
34 results