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

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

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design (opens in new window)

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

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