Lumbroso S - Search Results

1

Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.

Bernard E, Pegat A, Svahn J, Bouhour F, Leblanc P, Millecamps S, Thobois S, Guissart C, Lumbroso S, Mouzat K. Bernard E, et al. Among authors: lumbroso s. Int J Mol Sci. 2020 Sep 16;21(18):6807. doi: 10.3390/ijms21186807. Int J Mol Sci. 2020. PMID: 32948071 Free PMC article.

2

Electrophysiological Characterization of C9ORF72-Associated Amyotrophic Lateral Sclerosis: A Retrospective Study.

Pegat A, Bouhour F, Mouzat K, Vial C, Pegat B, Leblanc P, Broussolle E, Millecamps S, Lumbroso S, Bernard E. Pegat A, et al. Among authors: lumbroso s. Eur Neurol. 2019;82(4-6):106-112. doi: 10.1159/000505777. Epub 2020 Feb 4. Eur Neurol. 2019. PMID: 32018264

3

Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.

Muratet F, Teyssou E, Chiot A, Boillée S, Lobsiger CS, Bohl D, Gyorgy B, Guegan J, Marie Y, Amador MDM, Salachas F, Meininger V, Bernard E, Antoine JC, Camdessanché JP, Camu W, Cazeneuve C, Fauret-Amsellem AL, Leguern E, Mouzat K, Guissart C, Lumbroso S, Corcia P, Vourc'h P, Grapperon AM, Attarian S, Verschueren A, Seilhean D, Millecamps S. Muratet F, et al. Among authors: lumbroso s. J Neurol Neurosurg Psychiatry. 2021 Sep;92(9):942-949. doi: 10.1136/jnnp-2020-325921. Epub 2021 Mar 30. J Neurol Neurosurg Psychiatry. 2021. PMID: 33785574

4

Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case.

De La Cruz E, Guissart C, Esselin F, Polge A, Pageot N, Taieb G, Lumbroso S, Camu W, Mouzat K. De La Cruz E, et al. Among authors: lumbroso s. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Aug;23(5-6):458-461. doi: 10.1080/21678421.2021.1990344. Epub 2021 Oct 20. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 34668453

5

Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene.

Bernard E, Pegat A, Vallet AE, Leblanc P, Lumbroso S, Mouzat K, Latour P. Bernard E, et al. Among authors: lumbroso s. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Aug;23(5-6):473-475. doi: 10.1080/21678421.2021.1998538. Epub 2021 Nov 9. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 34751056

6

Liver X receptors: from cholesterol regulation to neuroprotection-a new barrier against neurodegeneration in amyotrophic lateral sclerosis?

Mouzat K, Raoul C, Polge A, Kantar J, Camu W, Lumbroso S. Mouzat K, et al. Among authors: lumbroso s. Cell Mol Life Sci. 2016 Oct;73(20):3801-8. doi: 10.1007/s00018-016-2330-y. Epub 2016 Aug 10. Cell Mol Life Sci. 2016. PMID: 27510420 Review.

7

Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation.

Taieb G, Polge A, Juntas-Morales R, Pageot N, Lumbroso S, Mouzat K, Camu W. Taieb G, et al. Among authors: lumbroso s. Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):296-297. doi: 10.1080/21678421.2016.1255756. Epub 2016 Nov 28. Amyotroph Lateral Scler Frontotemporal Degener. 2017. PMID: 27892702

8

Liver X Receptor Genes Variants Modulate ALS Phenotype.

Mouzat K, Molinari N, Kantar J, Polge A, Corcia P, Couratier P, Clavelou P, Juntas-Morales R, Pageot N, Lobaccaro J-A, Raoul C, Lumbroso S, Camu W. Mouzat K, et al. Among authors: lumbroso s. Mol Neurobiol. 2018 Mar;55(3):1959-1965. doi: 10.1007/s12035-017-0453-2. Epub 2017 Feb 27. Mol Neurobiol. 2018. PMID: 28244008

9

Regulation of Brain Cholesterol: What Role Do Liver X Receptors Play in Neurodegenerative Diseases?

Mouzat K, Chudinova A, Polge A, Kantar J, Camu W, Raoul C, Lumbroso S. Mouzat K, et al. Among authors: lumbroso s. Int J Mol Sci. 2019 Aug 8;20(16):3858. doi: 10.3390/ijms20163858. Int J Mol Sci. 2019. PMID: 31398791 Free PMC article. Review.

10

Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay.

Guissart C, Mouzat K, Kantar J, Louveau B, Vilquin P, Polge A, Raoul C, Lumbroso S. Guissart C, et al. Among authors: lumbroso s. Sci Rep. 2020 Nov 26;10(1):20738. doi: 10.1038/s41598-020-77716-5. Sci Rep. 2020. PMID: 33244158 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

147 results

Search Page