Pegat A - Search Results

1

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.

Fernández-Eulate G, Theuriet J, Record CJ, Querin G, Masingue M, Leonard-Louis S, Behin A, Le Forestier N, Pegat A, Michaud M, Chanson JB, Nadaj-Pakleza A, Tard C, Bedat-Millet AL, Sole G, Spinazzi M, Salort-Campana E, Echaniz-Laguna A, Poinsignon V, Latour P, Reilly MM, Bouhour F, Stojkovic T. Fernández-Eulate G, et al. Among authors: pegat a. Neurol Genet. 2023 Jul 17;9(4):e200087. doi: 10.1212/NXG.0000000000200087. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37470033 Free PMC article.

2

Neonatal pancytopenia in a child, born after maternal exposure to natalizumab throughout pregnancy.

Guilloton L, Pegat A, Defrance J, Quesnel L, Barral G, Drouet A. Guilloton L, et al. Among authors: pegat a. J Gynecol Obstet Hum Reprod. 2017 Mar;46(3):301-302. doi: 10.1016/j.jogoh.2017.02.008. Epub 2017 Feb 14. J Gynecol Obstet Hum Reprod. 2017. PMID: 28403930

3

Charcot-Marie-Tooth (CMT)-like polyneuropathy revealing neurofibromatosis type 2: A case report and review of the literature.

Pegat A, Ducray F, Jeannin-Mayer S, Jouanneau E, Pinson S, Petiot P. Pegat A, et al. Rev Neurol (Paris). 2019 Sep-Oct;175(7-8):486-489. doi: 10.1016/j.neurol.2018.10.011. Epub 2019 Jun 17. Rev Neurol (Paris). 2019. PMID: 31221421 Review. No abstract available.

4

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: pegat b. Eur Neurol. 2019;82(4-6):106-112. doi: 10.1159/000505777. Epub 2020 Feb 4. Eur Neurol. 2019. PMID: 32018264

5

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: pegat a. Int J Mol Sci. 2020 Sep 16;21(18):6807. doi: 10.3390/ijms21186807. Int J Mol Sci. 2020. PMID: 32948071 Free PMC article.

6

Guillain-Barré syndrome following first injection of ChAdOx1 nCoV-19 vaccine: First report.

Theuriet J, Richard C, Becker J, Pegat A, Bernard E, Vukusic S. Theuriet J, et al. Among authors: pegat a. Rev Neurol (Paris). 2021 Dec;177(10):1305-1307. doi: 10.1016/j.neurol.2021.04.005. Epub 2021 Jun 24. Rev Neurol (Paris). 2021. PMID: 34217513 No abstract available.

7

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: pegat a. 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

8

Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations.

Theuriet J, Pegat A, Leblanc P, Vukusic S, Cazeneuve C, Millecamps S, Banneau G, Guillaud-Bataille M, Bernard E. Theuriet J, et al. Among authors: pegat a. Genes (Basel). 2021 Nov 25;12(12):1876. doi: 10.3390/genes12121876. Genes (Basel). 2021. PMID: 34946825 Free PMC article.

9

Acute relapsing ataxic sensory neuronopathy with anti-FGFR3 autoantibodies mimicking acute myelopathy.

Theuriet J, Pegat A, Bernard E, Richard C, Camdessanche JP, Vukusic S. Theuriet J, et al. Among authors: pegat a. Rev Neurol (Paris). 2022 Jun;178(6):626-627. doi: 10.1016/j.neurol.2021.11.015. Epub 2022 Feb 9. Rev Neurol (Paris). 2022. PMID: 35151467 No abstract available.

10

Combined Central and Peripheral Demyelination With IgM Anti-Neurofascin 155 Antibodies: Case Report.

Pegat A, Delmont E, Svahn J, Bernard E, Lessard L, Marignier R, Bouhour F. Pegat A, et al. Neurol Neuroimmunol Neuroinflamm. 2022 Mar 21;9(3):e1160. doi: 10.1212/NXI.0000000000001160. Print 2022 May. Neurol Neuroimmunol Neuroinflamm. 2022. PMID: 35314490 Free PMC article. No abstract available.

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