OSCR

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.

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Authors: Chiara Fiorillo, Giovanna Capodivento, Alessandro Geroldi, Stefano Tozza, Isabella Moroni, Payam Mohassel, Matteo Cataldi, Chiara Campana, Simone Morando, Chiara Panicucci, Marina Pedemonte, Noemi Brolatti, Sabrina Siliquini, Monica Traverso, Serena Baratto, Doriana Debellis, Stefania Magri, Valeria Prada, Emilia Bellone, Vincenzo Salpietro
and 11 other authorsSandra Donkervoort, Kenneth Gable, Sita D Gupta, Teresa M Dunn, Carsten G Bönnemann, Franco Taroni, Claudio Bruno, Angelo Schenone, Paola Mandich, Lucilla Nobbio, Maria Nolano
Journal: Neuropathology and applied neurobiology
Published: 10 August 2022
Type: Research article
Status: data only (how the code is found and verified)
DOI: 10.1111/nan.12842
License: CC BY-NC-ND
Institutions: Istituto Giannina Gaslini (Italy), University of Genoa (Italy), Ospedale Policlinico San Martino (Italy), University of Naples Federico II (Italy), Fondazione IRCCS Istituto Neurologico Carlo Besta (Italy), National Institutes of Health (United States), National Institute of Neurological Disorders and Stroke (United States), Azienda Ospedaliero-Universitaria delle Marche (Italy), Italian Institute of Technology (Italy), University of Iowa (United States), Uniformed Services University of the Health Sciences (United States), Istituti Clinici Scientifici Maugeri (Italy)
Categories: human (organism), other condition (population), clinical / translational (subfield)

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