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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 1
1980 1
1994 1
1996 1
2005 1
2008 1
2010 1
2011 2
2012 1
2014 6
2015 8
2016 2
2017 1
2020 2
2021 2
2022 1
2023 1
2024 0

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27 results

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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. Brain. 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. Brain. 2022. PMID: 34983064 Free article.
Delayed-onset Friedreich's ataxia revisited.
Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M. Lecocq C, et al. Among authors: n guyen k. Mov Disord. 2016 Jan;31(1):62-9. doi: 10.1002/mds.26382. Epub 2015 Sep 21. Mov Disord. 2016. PMID: 26388117
Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Bannwarth S, et al. Among authors: n guyen k. Brain. 2015 Aug;138(Pt 8):e373. doi: 10.1093/brain/awu385. Epub 2015 Jan 8. Brain. 2015. PMID: 25576309 Free PMC article. No abstract available.
Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Bannwarth S, et al. Among authors: n guyen k. Brain. 2016 Apr;139(Pt 4):e22. doi: 10.1093/brain/awv368. Epub 2015 Dec 30. Brain. 2016. PMID: 26719380 Free PMC article. No abstract available.
Left atrial dysfunction as marker of poor outcome in patients with hypertrophic cardiomyopathy.
Essayagh B, Resseguier N, Michel N, Casalta AC, Renard S, Donghi V, Carbone A, Piazzai C, Ambrosi P, Levy F, Martel H, Gérard H, Avierinos JF, N'Guyen K, Habib G. Essayagh B, et al. Among authors: n guyen k. Arch Cardiovasc Dis. 2021 Feb;114(2):96-104. doi: 10.1016/j.acvd.2020.06.004. Epub 2020 Oct 7. Arch Cardiovasc Dis. 2021. PMID: 33039326 Free article.
Ejection Fraction Basal Strain Ratio: A New Composite Echocardiographic Deformation Parameter Allowing Differentiation of Cardiac Amyloidosis From Hypertrophic Cardiomyopathies.
Martel H, Rique A, Piazzai C, Mancini J, Dumonceau RG, Arregle F, Dernys A, Gardenat A, Casalta AC, Renard S, Hubert S, N'Guyen K, Habib G. Martel H, et al. Among authors: n guyen k. J Am Soc Echocardiogr. 2023 May;36(5):555-557. doi: 10.1016/j.echo.2022.12.021. Epub 2023 Jan 4. J Am Soc Echocardiogr. 2023. PMID: 36608742 Free article. No abstract available.
Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Bannwarth S, et al. Among authors: n guyen k. Brain. 2014 Dec;137(Pt 12):e314. doi: 10.1093/brain/awu300. Epub 2014 Oct 27. Brain. 2014. PMID: 25348633 Free PMC article. No abstract available.
Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Bannwarth S, et al. Among authors: n guyen k. Brain. 2015 Oct;138(Pt 10):e386. doi: 10.1093/brain/awv116. Epub 2015 May 7. Brain. 2015. PMID: 25953779 No abstract available.
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.
Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Bannwarth S, et al. Among authors: n guyen k. Brain. 2014 Dec;137(Pt 12):e312. doi: 10.1093/brain/awu267. Epub 2014 Sep 26. Brain. 2014. PMID: 25261971 Free PMC article. No abstract available.
27 results