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Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
El-Bazzal L, Ghata A, Estève C, Gadacha J, Quintana P, Castro C, Roeckel-Trévisiol N, Lembo F, Lenfant N, Mégarbané A, Borg JP, Lévy N, Bartoli M, Poitelon Y, Roubertoux PL, Delague V, Bernard-Marissal N. El-Bazzal L, et al. Among authors: bernard marissal n. Brain. 2023 May 2;146(5):1844-1858. doi: 10.1093/brain/awac402. Brain. 2023. PMID: 36314052 Free PMC article.
A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.
Blasco H, Bernard-Marissal N, Vourc'h P, Guettard YO, Sunyach C, Augereau O, Khederchah J, Mouzat K, Antar C, Gordon PH, Veyrat-Durebex C, Besson G, Andersen PM, Salachas F, Meininger V, Camu W, Pettmann B, Andres CR, Corcia P; French ALS Study Group. Blasco H, et al. Hum Mutat. 2013 Jul;34(7):953-60. doi: 10.1002/humu.22329. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23568759
Astrocyte-targeting RNA interference against mutated superoxide dismutase 1 induces motoneuron plasticity and protects fast-fatigable motor units in a mouse model of amyotrophic lateral sclerosis.
Rochat C, Bernard-Marissal N, Källstig E, Pradervand S, Perrin FE, Aebischer P, Raoul C, Schneider BL. Rochat C, et al. Among authors: bernard marissal n. Glia. 2022 May;70(5):842-857. doi: 10.1002/glia.24140. Epub 2022 Jan 3. Glia. 2022. PMID: 34978340 Free PMC article.
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja M, Azmi A, Baets J, Roos A, Jennings MJ, Saveri P, Pisciotta C, Bernard-Marissal N, Schneider BL, Verfaillie C, Chrast R, Seeman P, Hahn AF, de Jonghe P, Maudsley S, Horvath R, Pareyson D, Timmerman V. Juneja M, et al. Among authors: bernard marissal n. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):870-878. doi: 10.1136/jnnp-2017-317562. Epub 2018 Feb 15. J Neurol Neurosurg Psychiatry. 2018. PMID: 29449460
18 results