Dysregulation of TDP‐43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant

We investigated the Central Nervous System (CNS) and skeletal muscle tissue from A woman was clinically diagnosed with amyotrophic lateral sclerosis (ALS) at the age of 22. Neuropathologic evaluation showed upper and lower motor neuron loss, corticospinal tract degeneration and skeletal muscle dener...

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Dades bibliogràfiques
Publicat a:Brain Pathol
Autors principals: Newell, Kathy, Paron, Francesca, Mompean, Miguel, Murrell, Jill, Salis, Elisa, Stuani, Cristiana, Pattee, Gary, Romano, Maurizio, Laurents, Douglas, Ghetti, Bernardino, Buratti, Emanuele
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6875182/
https://ncbi.nlm.nih.gov/pubmed/30461104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bpa.12680
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