Using patient-derived human induced pluripotent stem cells (hiPSCs) to interrogate disease mechanisms and treatment in spinocerebellar ataxias

Project Information

PEDIATAX

Grant agreement ID: 101023312

DOI

10.3030/101023312

Project closed

EC signature date 16 March 2021

Start date 1 November 2021

End date 30 April 2023

Funded under

• EXCELLENT SCIENCE - Marie Skłodowska-Curie Actions

Total cost

€ 168 700,32

EU contribution

€ 168 700,32

Coordinated by

THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UNIVERSITY OF OXFORD
United Kingdom

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Publications

Peer reviewed articles (2)

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

Author(s): Jussi Pekka Tolonen MD, PhD, Ricardo Parolin Schnekenberg MD, Simon McGowan PhD, David Sims PhD, Meriel McEntagart FRCP, Frances Elmslie MD, FRCP, Debbie Shears MBBS, PhD, Helen Stewart MD, FRCP, George K. Tofaris FRCP, PhD, Tabib Dabir MD, DCH, MRCP, Patrick J. Morrison DSc, Diana Johnson BM, BSc, MD, Marios Hadjivassiliou MD, PhD, Sian Ellard PhD, FRCPath, Charles Shaw-Smith MRCP, PhD, Anna Znac
Published in: Movement Disorders, 2023, ISSN 0885-3185
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/mds.29651

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders

Author(s): Katariina Granath, Sanna Huhtaniska, Juulia Ellonen, Tytti Pokka, Salla M. Kangas, Jukka Moilanen, Heli Helander, Hanna Kallankari, Jonna Komulainen‐Ebrahim, Päivi Vieira, Elisa Rahikkala, Renzo Guerrini, Minna Honkila, Terhi S. Ruuska, Reetta Hinttala, Maria Suo‐Palosaari, Jussi‐Pekka Tolonen, Johanna Uusimaa
Published in: Movement Disorders, 2025, ISSN 0885-3185
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/mds.30210