Darios F - Search Results

1

Recent advances in understanding hereditary spastic paraplegias and emerging therapies.

Lallemant-Dudek P, Darios F, Durr A. Lallemant-Dudek P, et al. Among authors: darios f. Fac Rev. 2021 Mar 10;10:27. doi: 10.12703/r/10-27. eCollection 2021. Fac Rev. 2021. PMID: 33817696 Free PMC article. Review.

2

Lipids in the Physiopathology of Hereditary Spastic Paraplegias.

Darios F, Mochel F, Stevanin G. Darios F, et al. Front Neurosci. 2020 Feb 28;14:74. doi: 10.3389/fnins.2020.00074. eCollection 2020. Front Neurosci. 2020. PMID: 32180696 Free PMC article. Review.

3

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.

4

Correction: 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. 2021 Oct;23(10):2021. doi: 10.1038/s41436-020-01064-y. Genet Med. 2021. PMID: 33353973 Free article. No abstract available.

5

Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia.

Coarelli G, Darios F, Petit E, Dorgham K, Adanyeguh I, Petit E, Brice A, Mochel F, Durr A. Coarelli G, et al. Among authors: darios f. Neurobiol Dis. 2021 Jun;153:105311. doi: 10.1016/j.nbd.2021.105311. Epub 2021 Feb 23. Neurobiol Dis. 2021. PMID: 33636389 Free article.

6

Genetics in hereditary spastic paraplegias: Essential but not enough.

Darios F, Coarelli G, Durr A. Darios F, et al. Curr Opin Neurobiol. 2022 Feb;72:8-14. doi: 10.1016/j.conb.2021.07.005. Epub 2021 Aug 14. Curr Opin Neurobiol. 2022. PMID: 34403957 Review.

7

Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases.

Darios F, Stevanin G. Darios F, et al. J Mol Biol. 2020 Apr 3;432(8):2714-2734. doi: 10.1016/j.jmb.2020.02.033. Epub 2020 Mar 5. J Mol Biol. 2020. PMID: 32145221 Free PMC article. Review.

8

Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis.

Boutry M, Pierga A, Matusiak R, Branchu J, Houllegatte M, Ibrahim Y, Balse E, El Hachimi KH, Brice A, Stevanin G, Darios F. Boutry M, et al. Among authors: darios f. Commun Biol. 2019 Oct 17;2:380. doi: 10.1038/s42003-019-0615-z. eCollection 2019. Commun Biol. 2019. PMID: 31637311 Free PMC article.

9

CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulators.

Hörner M, Groh J, Klein D, Ilg W, Schöls L, Dos Santos S, Bergmann A, Klebe S, Cauhape M, Branchu J, El Hachimi KH, Stevanin G, Darios F, Martini R. Hörner M, et al. Among authors: darios f. Exp Neurol. 2022 Sep;355:114119. doi: 10.1016/j.expneurol.2022.114119. Epub 2022 May 20. Exp Neurol. 2022. PMID: 35605667

10

Implication of folate deficiency in CYP2U1 loss of function.

Pujol C, Legrand A, Parodi L, Thomas P, Mochel F, Saracino D, Coarelli G, Croon M, Popovic M, Valet M, Villain N, Elshafie S, Issa M, Zuily S, Renaud M, Marelli-Tosi C, Legendre M, Trimouille A, Kemlin I, Mathieu S, Gleeson JG, Lamari F, Galatolo D, Alkouri R, Tse C, Rodriguez D, Ewenczyk C, Fellmann F, Kuntzer T, Blond E, El Hachimi KH, Darios F, Seyer A, Gazi AD, Giavalisco P, Perin S, Boucher JL, Le Corre L, Santorelli FM, Goizet C, Zaki MS, Picaud S, Mourier A, Steculorum SM, Mignot C, Durr A, Trifunovic A, Stevanin G. Pujol C, et al. Among authors: darios f. J Exp Med. 2021 Nov 1;218(11):e20210846. doi: 10.1084/jem.20210846. Epub 2021 Sep 21. J Exp Med. 2021. PMID: 34546337 Free PMC article.

11

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.

Duchesne A, Vaiman A, Frah M, Floriot S, Legoueix-Rodriguez S, Desmazières A, Fritz S, Beauvallet C, Albaric O, Venot E, Bertaud M, Saintilan R, Guatteo R, Esquerré D, Branchu J, Fleming A, Brice A, Darios F, Vilotte JL, Stevanin G, Boichard D, El Hachimi KH. Duchesne A, et al. Among authors: darios f. PLoS Genet. 2018 Aug 1;14(8):e1007550. doi: 10.1371/journal.pgen.1007550. eCollection 2018 Aug. PLoS Genet. 2018. PMID: 30067756 Free PMC article.

12

Emerging evidence for the modulation of exocytosis by signalling lipids.

Garcia-Martinez V, Gimenez-Molina Y, Villanueva J, Darios FD, Davletov B, Gutiérrez LM. Garcia-Martinez V, et al. FEBS Lett. 2018 Nov;592(21):3493-3503. doi: 10.1002/1873-3468.13178. Epub 2018 Jul 10. FEBS Lett. 2018. PMID: 29962039 Free PMC article. Review.

13

Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration.

Boutry M, Branchu J, Lustremant C, Pujol C, Pernelle J, Matusiak R, Seyer A, Poirel M, Chu-Van E, Pierga A, Dobrenis K, Puech JP, Caillaud C, Durr A, Brice A, Colsch B, Mochel F, El Hachimi KH, Stevanin G, Darios F. Boutry M, et al. Among authors: darios f. Cell Rep. 2018 Jun 26;23(13):3813-3826. doi: 10.1016/j.celrep.2018.05.098. Cell Rep. 2018. PMID: 29949766 Free PMC article.

14

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G, Pujol C, Lacombe D, Durr A, Babin PJ, Santorelli FM, Pietrancosta N, Boucher JL, Mansuy D, Stevanin G, Goizet C. Durand CM, et al. Among authors: darios f. Hum Mutat. 2018 Jan;39(1):140-151. doi: 10.1002/humu.23359. Epub 2017 Nov 11. Hum Mutat. 2018. PMID: 29034544 Free article.

15

Sphingomimetic multiple sclerosis drug FTY720 activates vesicular synaptobrevin and augments neuroendocrine secretion.

Darios FD, Jorgacevski J, Flašker A, Zorec R, García-Martinez V, Villanueva J, Gutiérrez LM, Leese C, Bal M, Nosyreva E, Kavalali ET, Davletov B. Darios FD, et al. Sci Rep. 2017 Jul 20;7(1):5958. doi: 10.1038/s41598-017-05948-z. Sci Rep. 2017. PMID: 28729700 Free PMC article.

16

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.

Branchu J, Boutry M, Sourd L, Depp M, Leone C, Corriger A, Vallucci M, Esteves T, Matusiak R, Dumont M, Muriel MP, Santorelli FM, Brice A, El Hachimi KH, Stevanin G, Darios F. Branchu J, et al. Among authors: darios f. Neurobiol Dis. 2017 Jun;102:21-37. doi: 10.1016/j.nbd.2017.02.007. Epub 2017 Feb 22. Neurobiol Dis. 2017. PMID: 28237315 Free PMC article.

17

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation.

Lavie J, Serrat R, Bellance N, Courtand G, Dupuy JW, Tesson C, Coupry I, Brice A, Lacombe D, Durr A, Stevanin G, Darios F, Rossignol R, Goizet C, Bénard G. Lavie J, et al. Among authors: darios f. Hum Mol Genet. 2017 Feb 15;26(4):674-685. doi: 10.1093/hmg/ddw425. Hum Mol Genet. 2017. PMID: 28007911

18

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

Elsayed LEO, Mohammed IN, Hamed AAA, Elseed MA, Johnson A, Mairey M, Mohamed HESA, Idris MN, Salih MAM, El-Sadig SM, Koko ME, Mohamed AYO, Raymond L, Coutelier M, Darios F, Siddig RA, Ahmed AKMA, Babai AMA, Malik HMO, Omer ZMBM, Mohamed EOE, Eltahir HB, Magboul NAA, Bushara EE, Elnour A, Rahim SMA, Alattaya A, Elbashir MI, Ibrahim ME, Durr A, Audhya A, Brice A, Ahmed AE, Stevanin G. Elsayed LEO, et al. Among authors: darios f. Eur J Hum Genet. 2016 Jan;25(1):100-110. doi: 10.1038/ejhg.2016.108. Epub 2016 Sep 7. Eur J Hum Genet. 2016. PMID: 27601211 Free PMC article.

19

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

Denora PS, Smets K, Zolfanelli F, Ceuterick-de Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, Stevanin G, Martin JJ, El Hachimi KH. Denora PS, et al. Among authors: darios f. Brain. 2016 Jun;139(Pt 6):1723-34. doi: 10.1093/brain/aww061. Epub 2016 Mar 25. Brain. 2016. PMID: 27016404 Free PMC article.

20

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.

Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Dürr A, Anheim M, Gellera C, Li J, Züchner S, Mariotti C, Stevanin G, Blackstone C, Kruer MC, Robinson MS. Hirst J, et al. Among authors: darios f. Hum Mol Genet. 2015 Sep 1;24(17):4984-96. doi: 10.1093/hmg/ddv220. Epub 2015 Jun 17. Hum Mol Genet. 2015. PMID: 26085577 Free PMC article.

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