News

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

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News

Autoreactive T cells target peripheral nerves in Guillain-Barré syndrome.

Native collagen VI delays muscle stem cell early differentiation.

The ER stress sensor IRE1 interacts with STIM1 to promote store-operated calcium entry, T cell activation, and muscular differentiation.

Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study.

Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.

Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.

Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders.

Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.

RNA recognition by Npl3p reveals U2 snRNA-binding compatible with a chaperone role during splicing.

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