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Luca Bartesaghi
Luca Bartesaghi
post-doc, Karolinska Intitutet
在 ki.se 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
1382015
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
1192018
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
972019
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
792011
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
762011
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
622019
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
472013
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
452019
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
442013
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
372019
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
352021
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
302021
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
122015
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
82022
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
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