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Emilien Bernard

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Articles 37
Citations 666
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Recent Articles
1.
Picard F, Nonaka T, Belotti E, Osseni A, Errazuriz-Cerda E, Jost-Mousseau C, et al.
Cell Mol Life Sci . 2025 Feb; 82(1):76. PMID: 39948244
Proteinopathies, such as amyotrophic lateral sclerosis (ALS), are marked by the accumulation of misfolded proteins that disrupt cellular processes. Eukaryotic cells have developed protein quality control systems to eliminate these...
2.
Theuriet J, Bernard E, Guy N, Taithe F, Even C, Maisonobe T, et al.
Muscle Nerve . 2025 Jan; 71(4):644-650. PMID: 39844762
Introduction/aims: Finger Extension Weakness and DOwnbeat Nystagmus Motor Neuron Disease (FEWDON-MND) is characterized by motor weakness predominantly affecting finger extension, accompanied by downbeat nystagmus. To date, only 11 patients have...
3.
Delorme C, Pegat A, Theuriet J, Brandel J, Roze E, Viala K, et al.
Ann Clin Transl Neurol . 2025 Jan; PMID: 39799963
Objective: To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease. Methods: We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive...
4.
Bernard E, Cluse F, Bohic A, Hermier M, Raoul C, Leblanc P, et al.
Int J Mol Sci . 2024 Aug; 25(15). PMID: 39125740
We investigate the etiology of amyotrophic lateral sclerosis (ALS) in a 35-year-old woman presenting with progressive weakness in her left upper limb. Prior to sequencing, a comprehensive neurological work-up was...
5.
Zibold J, Lessard L, Picard F, da Silva L, Zadorozhna Y, Streichenberger N, et al.
Brain . 2023 Dec; 147(5):1768-1783. PMID: 38079474
TAR DNA binding protein of 43 kDa (TDP-43)-positive inclusions in neurons are a hallmark of several neurodegenerative diseases including familial amyotrophic lateral sclerosis (fALS) caused by pathogenic TARDBP variants as...
6.
Cluse F, Hermier M, Demarquay G, Rogemond V, Mallaret M, Svahn J, et al.
Neurol Neuroimmunol Neuroinflamm . 2023 Aug; 10(6). PMID: 37607754
Objectives: Anti-IgLON5 disease (IgLON5-D) may present with a bulbar-onset motor neuron disease-like phenotype, mimicking bulbar-onset amyotrophic lateral sclerosis. Recognition of their distinctive clinical and paraclinical features may help for differential...
7.
Theuriet J, Fernandez-Eulate G, Latour P, Stojkovic T, Masingue M, Vidoni L, et al.
Eur J Hum Genet . 2023 Jun; 32(1):37-43. PMID: 37337091
Proximal spinal muscular atrophy (SMA) is defined by a degeneration of the anterior horn cells resulting in muscle weakness predominantly in the proximal lower limbs. While most patients carry a...
8.
Pegat A, Bernard E
Amyloid . 2023 Jun; 30(3):346-347. PMID: 37294189
No abstract available.
9.
Tankere P, Le Cam P, Folliet L, Bernard E, Cluse F, Gobert F, et al.
J Clin Sleep Med . 2023 May; 19(9):1701-1704. PMID: 37166031
Citation: Tankéré P, Le Cam P, Folliet L, et al. Unveiled central hypoventilation after tracheotomy in anti-IgLON5 disease: a case report. . 2023;19(9):1701-1704.
10.
Pons N, Fernandez-Eulate G, Pegat A, Theaudin M, Guieu R, Ripellino P, et al.
Eur J Neurol . 2023 Mar; 30(7):2001-2011. PMID: 36943151
Background And Purpose: Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot-Marie-Tooth disease type 2 (CMT2) and distal...