Spinal Muscular Atrophy (SMA) beyond motoneuron degeneration: multi-system aspects

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D5.1 Advertising vacancies to recruit ESRs [m2]

Outreach plan (by dissemination committee)

D62 Report on Outreach Plan m12

D61 Dedicated internal and public network website m10

Publicaciones

The Proteome Signatures of Fibroblasts from Patients with Severe, Intermediate and Mild Spinal Muscular Atrophy Show Limited Overlap

Autores: Sharon J. Brown, Rachel A. Kline , Silvia A. Synowsky, Sally L. Shirran, Ian Holt, Kelly A. Sillence, Peter Claus, Brunhilde Wirth,Thomas M. Wishart and Heidi R. Fuller
Publicado en: Cells, 2022, ISSN 2073-4409
Editor: MDPI
DOI: 10.3390/cells11172624

S-Glutathionylation and S-Nitrosylation in Mitochondria: Focus on Homeostasis and Neurodegenerative Diseases

Autores: Sofia Vrettou; Brunhilde Wirth
Publicado en: International Journal of Molecular Sciences, 2022, ISSN 1422-0067
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms232415849

Microvasculopathy in spinal muscular atrophy is driven by a reversible autonomous endothelial cell defect

Autores: Haiyan Zhou, Ying Hong, Mariacristina Scoto, Alison Thomson, Emma Pead, Tom MacGillivray, Elena Hernandez-Gerez, Francesco Catapano, Jinhong Meng, Qiang Zhang, Gillian Hunter, Hannah K. Shorrock, Thomas K. Ng, Abedallah Hamida, Mathilde Sanson, Giovanni Baranello, Kevin Howell, Thomas H. Gillingwater, Paul Brogan, Dorothy A. Thompson, Simon H. Parson, and Francesco Muntoni
Publicado en: The Journal of Clinical Investigation, Edición 15588238, 2022, ISSN 1558-8238
Editor: The American Society of Clinical Investigation
DOI: 10.1172/jci153430

CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia

Autores: Andrea Delle Vedove, Janani Natarajan, Ginevra Zanni, Matthias Eckenweiler, Anixa Muiños-Bühl, Markus Storbeck, Jordina Guillén Boixet, Sabina Barresi, Simone Pizzi, Irmgard Hölker, Friederike Körber, Titus M. Franzmann, Enrico S. Bertini, Janbernd Kirschner, Simon Alberti, Marco Tartaglia & Brunhilde Wirth
Publicado en: Cellular and Molecular Life Sciences, 2022, ISSN 1436-4891
Editor: Springer
DOI: 10.1007/s00018-022-04544-3

Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy

Autores: Schorling, David; Kölbel, Heike; Hentschel, Andreas; Pechmann, Astrid; Meyer, Nancy; Wirth, Brunhilde; Rombo, Roman; SMArtCARE consortium; Sickmann, Albert; Kirschner, Janbernd; Schara-Schmidt, Ulrike; Lochmüller, Hanns; Roos, Andreas
Publicado en: European Journal of Neurology, 2022, ISSN 1468-1331
Editor: Wiley online library
DOI: 10.1111/ene.15331

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