News
A model of human neural networks reveals NPTX2 pathology in ALS and FTLD.
Hruska-Plochan M, Wiersma VI, Betz KM, Mallona I, Ronchi S, Maniecka Z, Hock EM, Tantardini E, Laferriere F, Sahadevan S, Hoop V, Delvendahl I, Pérez-Berlanga M, Gatta...
14 Februar 2024
Direct reprogramming of non-limb fibroblasts to cells with properties of limb progenitors.
Atsuta Y, Lee C, Rodrigues AR, Colle C, Tomizawa RR, Lujan EG, Tschopp P, Galan L, Zhu M, Gorham JM, Vannier JP, Seidman CE, Seidman JG, Ros MA, Pourquié O, Tabin...
05 Februar 2024
Autoreactive T cells target peripheral nerves in Guillain-Barré syndrome.
Súkeníková L, Mallone A, Schreiner B, Ripellino P, Nilsson J, Stoffel M, Ulbrich SE, Sallusto F, Latorre D. Nature. 2024 Jan 17. doi: 10.1038/s41586-023-06916-6.
17 Januar 2024
Native collagen VI delays muscle stem cell early differentiation.
Metti S, Ros FD, Toniato G, Cescon M, Bonaldo P. J Cell Sci. 2024 Jan 15:jcs.261419.
15 Januar 2024
The ER stress sensor IRE1 interacts with STIM1 to promote store-operated calcium entry, T cell activation, and muscular differentiation.
Carreras-Sureda A, Zhang X, Laubry L, Brunetti J, Koenig S, Wang X, Castelbou C, Hetz C, Liu Y, Frieden M, Demaurex N. Cell Rep. 2023 Dec 26;42(12):113540.
26 Dezember 2023
Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study.
Vicino A, Bello L, Bonanno S, Govoni A, Cerri F, Ferraro M, Capece G, Gadaleta G, Meneri M, Vacchiano V, Ricci G, D'Errico E, Tramacere I, Banfi P, Bortolani S, Zanin R,...
22 Dezember 2023
Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.
Noda Y, Miyoshi H, Benucci S, Gonzalez A, Bandschapp O, Girard T, Treves S, Zorzato F. Neuromuscul Disord. 2023 Dec;33(12):951-963
14 Dezember 2023
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
Dohrn MF, Beijer D, Lone MA, Bayraktar E, Oflazer P, Orbach R, Donkervoort S, Foley AR, Rose A, Lyons M, Louie RJ, Gable K, Dunn T, Chen S, Danzi MC, Synofzik M,...
01 Dezember 2023
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB, Lone MA, Mohassel P, Donkervoort S, Munot P, França MC Jr, Galarza-Brito JE, Eckenweiler M, Asamoah A, Gable K, Majumdar A, Schumann A, Gupta SD, Lakhotia A,...
01 Dezember 2023
Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders.
Gomez Limia C, Baird M, Schwartz M, Saxena S, Meyer K, Wein N. J Pers Med. 2022 Nov 30;12(12):1979.
16 November 2023
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