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Page 1
Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice.
Bannwarth S, Berg-Alonso L, Augé G, Fragaki K, Kolesar JE, Lespinasse F, Lacas-Gervais S, Burel-Vandenbos F, Villa E, Belmonte F, Michiels JF, Ricci JE, Gherardi R, Harrington L, Kaufman BA, Paquis-Flucklinger V. Bannwarth S, et al. Among authors: auge g. Mitochondrion. 2016 Sep;30:126-37. doi: 10.1016/j.mito.2016.02.005. Epub 2016 Feb 24. Mitochondrion. 2016. PMID: 26923168 Free PMC article.
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore DG, 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: auge g. Brain. 2014 Aug;137(Pt 8):2329-45. doi: 10.1093/brain/awu138. Epub 2014 Jun 16. Brain. 2014. PMID: 24934289 Free PMC article.
Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
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: auge g. Brain. 2014 Dec;137(Pt 12):e310. doi: 10.1093/brain/awu228. Epub 2014 Aug 11. Brain. 2014. PMID: 25113788 Free PMC article. No abstract available.
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.
Chaussenot A, Le Ber I, Ait-El-Mkadem S, Camuzat A, de Septenville A, Bannwarth S, Genin EC, Serre V, Augé G; French research network on FTD and FTD-ALS; Brice A, Pouget J, Paquis-Flucklinger V. Chaussenot A, et al. Among authors: auge g. Neurobiol Aging. 2014 Dec;35(12):2884.e1-2884.e4. doi: 10.1016/j.neurobiolaging.2014.07.022. Epub 2014 Jul 24. Neurobiol Aging. 2014. PMID: 25155093
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: auge g. 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.
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: auge g. 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: 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: auge g. 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: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.
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: auge g. Brain. 2015 Sep;138(Pt 9):e377. doi: 10.1093/brain/awv015. Epub 2015 Feb 12. Brain. 2015. PMID: 25681413 Free PMC article. No abstract available.
Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322-324.
Plutino M, Chaussenot A, Ait-El-Mkadem S, Bannwarth S, Genin EC, Rouzier C, Augé G, Sacconi S, Pouget J, Paquis-Flucklinger V. Plutino M, et al. Among authors: auge g. J Neurol Sci. 2015 Apr 15;351(1-2):196-197. doi: 10.1016/j.jns.2015.02.025. Epub 2015 Feb 20. J Neurol Sci. 2015. PMID: 25732802 No abstract available.
44 results