Luca Bartesaghi

Missense mutations in<i>TENM4</i>, a regulator of axon guidance and central myelination, cause essential tremor

Hyun Hor, Ludmila Francescatto, Luca Bartesaghi et al. · Human Molecular Genetics · 2015 · 134 citations · Full text

Missense Mutations, Motor Control Disorders, Neurological Disorder +21

Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein et al. · The EMBO Journal · 2018 · 122 citations · Full text

Neurodegenerative Diseases, Neurobiology Of Disease, Molecular Neuroscience +7

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

Nathalie Bernard‐Marissal, Gerben van Hameren, Manisha Juneja et al. · Proceedings of the National Academy of Sciences · 2019 · 98 citations · Full text

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

Caterina Berti, Luca Bartesaghi, Monica Ghidinelli et al. · Development · 2011 · 67 citations · Full text

Non-redundant Function, Molecular Biology, Cytoskeleton +25

A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy

Hyun Hor, Luca Bartesaghi, Zoltán Kutalik et al. · The American Journal of Human Genetics · 2011 · 64 citations · Full text

Mendelian Disorder, Neurological Disorder, Missense Mutation +9