Luca Bartesaghi

Most-cited papers

1. Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

   H. Hor, Ludmila Francescatto, Luca Bartesaghi, S. Ortega-Cubero +21 more

   2015Human Molecular Genetics139 citations Open access

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2. Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

   V. Shashi, M. Magiera, D. Klein, M. Zaki +56 more

   2018EMBO Journal118 citations Open access

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3. Altered interplay between endoplasmic reticulum and mitochondria in Charcot–Marie–Tooth type 2A neuropathy

   N. Bernard-Marissal, G. van Hameren, M. Juneja, Christophe Pellegrino +13 more

   2019Proceedings of the National Academy of Sciences of the United States of America89 citations Open access

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4. Non-redundant function of dystroglycan and β1 integrins in radial sorting of axons

   C. Berti, Luca Bartesaghi, M. Ghidinelli, D. Zambroni +5 more

   2011Development67 citations Open access

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5. A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy.

   H. Hor, Luca Bartesaghi, Z. Kutalik, J. Vicario +7 more

   2011American Journal of Human Genetics58 citations Open access

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6. Injured Axons Instruct Schwann Cells to Build Constricting Actin Spheres to Accelerate Axonal Disintegration.

   Adrien Vaquié, Alizée Sauvain, Mert Duman, Gianluigi Nocera +11 more

   2019Cell Reports51 citations Open access

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7. PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

   Luca Bartesaghi, Yiqiao Wang, P. Fontanet, Simone Wanderoy +23 more

   2019Cell Reports47 citations Open access

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8. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

   M. Wiessner, R. Maroofian, Meng-Yuan Ni, A. Pedroni +102 more

   2021Brain : a journal of neurology46 citations Open access

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9. Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling

   Estelle Arnaud Gouttenoire, V. Lupo, E. Calpena, Luca Bartesaghi +8 more

   2013Glia41 citations Open access

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10. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

    H. Azzedine, P. Zavadáková, V. Planté-Bordeneuve, M. Vaz Pato +26 more

    2013Human Molecular Genetics37 citations Open access

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11. Disrupted function of lactate transporter MCT1, but not MCT4, in Schwann cells affects the maintenance of motor end‐plate innervation

    Filipa Bouçanova, Gill Pollmeier, K. Sandor, C. E. Morado-Urbina +7 more

    2020Glia35 citations Open access

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12. Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.

    P. Sancho, Luca Bartesaghi, Olivia Miossec, F. García-García +11 more

    2019Human Molecular Genetics33 citations Open access

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13. Sox4 participates in the modulation of Schwann cell myelination

    Luca Bartesaghi, Estelle Arnaud Gouttenoire, A. Prunotto, Jean-Jacques Médard +2 more

    2015European Journal of Neuroscience14 citations Open access

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14. Structural insights into Charcot–Marie–Tooth disease‐linked mutations in human GDAP1

    A. Sutinen, G. T. T. Nguyen, A. Raasakka, G. Muruganandam +6 more

    2022bioRxiv10 citations Open access

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15. Novel implications of lingo-1 signaling in the post-mortem schizophrenia brain

    Basilio Giangreco, P. Steullet, J. Cabungcal, Luca Bartesaghi +3 more

    20147 citations

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16. PLEKHG 5 deficiency leads to an intermediate form of autosomal-recessive Charcot – Marie – Tooth disease

    H. Azzedine, P. Zavadáková, V. Planté-Bordeneuve, M. V. Pato +26 more

    20134 citations

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17. Tight Spaces, Tighter Signals: Spatial Constraints as Drivers of Peripheral Myelination

    Luca Bartesaghi, Basilio Giangreco, Vanessa Chiappini, María Fernanda Veloz Castillo +5 more

    2025Cells3 citations Open access

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18. Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

    M. Wiessner, R. Maroofian, Meng-Yuan Ni, A. Pedroni +102 more

    2021Brain : a journal of neurology2 citations Open access

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19. GLIA Porto 2019: Abstracts Oral Presentations, Posters, Indexes

    Luca Bartesaghi, C. Bellardita, Jean-Jacques Médard, O. Kiehn +1 more

    2019Glia2 citations Open access

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20. Exploring the effect of red and near-infrared light on neurodegenerative disease: A focus on amyotrophic lateral sclerosis, Charcot's devastating disease of the motor system.

    Audrey Valverde, H. Blasco, P. Corcia, Olivier Hérault +6 more

    2026International review of neurobiology0 citations

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21. Volume electron microscopy reveals oligodendrocyte axon selection patterns and spatial assembly of myelin and nodes

    Martina Monaco, Vanessa Chiappini, María Fernanda Veloz Castillo, Kalpana Kare +3 more

    2026iScience0 citations Open access

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