Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy

Autor: Monfrini, Edoardo, Straniero, Letizia, Bonato, Sara, Monzio Compagnoni, Giacomo, Bordoni, Andreina, Dilena, Robertino, Rinchetti, Paola, Silipigni, Rosamaria, Ronchi, Dario, Corti, Stefania, Comi, Giacomo P., Bresolin, Nereo, Duga, Stefano, Di Fonzo, Alessio

Publikováno v: In Parkinsonism and Related Disorders June 2019 63:66-72

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

Autor: Pagliarani, Serena, Lucchiari, Sabrina, Ulzi, Gianna, Ripolone, Michela, Violano, Raffaella, Fortunato, Francesco, Bordoni, Andreina, Corti, Stefania, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo P.

Publikováno v: In BBA - Molecular Basis of Disease October 2018 1864(10):3407-3417

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons

Autor: Rizzo, Federica, Nizzardo, Monica, Vashisht, Shikha, Molteni, Erika, Melzi, Valentina, Taiana, Michela, Salani, Sabrina, Santonicola, Pamela, Di Schiavi, Elia, Bucchia, Monica, Bordoni, Andreina, Faravelli, Irene, Bresolin, Nereo, Comi, Giacomo Pietro, Pozzoli, Uberto, Corti, Stefania

Publikováno v: Brain
Brain (Online) 142 (2019): 276–294. doi:10.1093/brain/awy330
info:cnr-pdr/source/autori:Rizzo, Federica; Nizzardo, Monica; Vashisht, Shikha; Molteni, Erika; Melzi, Valentina; Taiana, Michela; Salani, Sabrina; Santonicola, Pamela; Di Schiavi, Elia; Bucchia, Monica; Bordoni, Andreina; Faravelli, Irene; Bresolin, Nereo; Bresolin, Nereo; Comi, Giacomo Pietro; Comi, Giacomo Pietro; Pozzoli, Uberto; Corti, Stefania; Corti, Stefania/titolo:Key role of SMN%2FSYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons/doi:10.1093%2Fbrain%2Fawy330/rivista:Brain (Online)/anno:2019/pagina_da:276/pagina_a:294/intervallo_pagine:276–294/volume:142

The molecular mechanisms responsible for selective motor neuron loss in SMA remain elusive. Rizzo et al. show that deregulated transcripts in SMA-motor neurons share motif 7, targeted by SYNCRIP, which binds SMN. Impaired SYNCRIP-SMN interaction lead

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bfe322502031e97bdf1fd54a24972a7
https://doi.org/10.1093/brain/awy330

Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction

Autor: Corti, Stefania, Donadoni, Chiara, Ronchi, Dario, Bordoni, Andreina, Fortunato, Francesco, Santoro, Domenico, Del Bo, Roberto, Lucchini, Valeria, Crugnola, Veronica, Papadimitriou, Dimitra, Salani, Sabrina, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo P.

Publikováno v: In Journal of the Neurological Sciences 2009 276(1):170-174

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.