Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor H Hor, L Francescatto, L Bartesaghi, S Ortega-Cubero, M Kousi, ... Human molecular genetics 24 (20), 5677-5686, 2015 | 138 | 2015 |
Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration V Shashi, MM Magiera, D Klein, M Zaki, K Schoch, S Rudnik‐Schöneborn, ... The EMBO journal 37 (23), e100540, 2018 | 119 | 2018 |
Altered interplay between endoplasmic reticulum and mitochondria in Charcot–Marie–Tooth type 2A neuropathy N Bernard-Marissal, G van Hameren, M Juneja, C Pellegrino, ... Proceedings of the National Academy of Sciences 116 (6), 2328-2337, 2019 | 97 | 2019 |
A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy H Hor, L Bartesaghi, Z Kutalik, JL Vicário, C de Andrés, C Pfister, ... The American Journal of Human Genetics 89 (3), 474-479, 2011 | 79 | 2011 |
Non-redundant function of dystroglycan and β1 integrins in radial sorting of axons C Berti, L Bartesaghi, M Ghidinelli, D Zambroni, G Figlia, ZL Chen, ... Development 138 (18), 4025-4037, 2011 | 76 | 2011 |
Injured axons instruct Schwann cells to build constricting actin spheres to accelerate axonal disintegration A Vaquie, A Sauvain, M Duman, G Nocera, B Egger, F Meyenhofer, ... Cell Reports 27 (11), 3152-3166. e7, 2019 | 62 | 2019 |
Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling EA Gouttenoire, V Lupo, E Calpena, L Bartesaghi, F Schüpfer, JJ Médard, ... Glia 61 (7), 1041-1051, 2013 | 47 | 2013 |
PRDM12 is required for initiation of the nociceptive neuron lineage during neurogenesis L Bartesaghi, Y Wang, P Fontanet, S Wanderoy, F Berger, H Wu, ... Cell reports 26 (13), 3484-3492. e4, 2019 | 45 | 2019 |
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease H Azzedine, P Zavadakova, V Planté-Bordeneuve, M Vaz Pato, N Pinto, ... Human molecular genetics 22 (20), 4224-4232, 2013 | 44 | 2013 |
Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations P Sancho, L Bartesaghi, O Miossec, F Garcia-Garcia, L Ramirez-Jimenez, ... Human Molecular Genetics 28 (10), 1629-1644, 2019 | 37 | 2019 |
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia M Wiessner, R Maroofian, MY Ni, A Pedroni, JS Müller, R Stucka, C Beetz, ... Brain 144 (5), 1422-1434, 2021 | 35 | 2021 |
Disrupted function of lactate transporter MCT1, but not MCT4, in Schwann cells affects the maintenance of motor end‐plate innervation F Bouçanova, G Pollmeier, K Sandor, C Morado Urbina, J Nijssen, ... Glia 69 (1), 124-136, 2021 | 30 | 2021 |
Sox4 participates in the modulation of Schwann cell myelination L Bartesaghi, E Arnaud Gouttenoire, A Prunotto, JJ Médard, S Bergmann, ... European Journal of Neuroscience 42 (2), 1788-1796, 2015 | 12 | 2015 |
Structural insights into Charcot–Marie–Tooth disease‐linked mutations in human GDAP1 A Sutinen, GTT Nguyen, A Raasakka, G Muruganandam, R Loris, ... FEBS Open Bio 12 (7), 1306-1324, 2022 | 8 | 2022 |
Nerve Regeneration Following Ablation Of Monocarboxylate Transporters 1, 2 And 4 From Schwann Cells J Passero, A Rawat, F Yang, F Boucanova, L Bartesaghi, R Chrast, ... Journal Of The Peripheral Nervous System 27, S104-S104, 2022 | | 2022 |
Genetics of Pain: Novel variants identified by the European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (ENISNIP) A Lischka, K Eggermann, A Cakar, R Bocek, L Bartesaghi, M Elbracht, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 128-128, 2022 | | 2022 |
Expanding the molecular characterization of the CMT2Z disease associated gene MORC2 P Sancho, L Bartesaghi, O Moissec, F Garcia-Garcia, L Ramirez-Jimenez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1479-1480, 2019 | | 2019 |
Characterization of the onset and progression of nervous system myelination in mice L Bartesaghi, C Bellardita, JJ Medard, O Kiehn, R Chrast GLIA 67, E477-E478, 2019 | | 2019 |
Three-dimensional analysis of the spatial-temporal progression of peripheral nervous system myelination in mice L Bartesaghi, C Bellardita, JJ Medard, O Kiehn, R Chrast GLIA 67, E100-E100, 2019 | | 2019 |
Identification and characterization of novel molecular mechanisms involved in initiation and progression of myelination L Bartesaghi Université de Lausanne, Faculté de biologie et médecine, 2014 | | 2014 |