Jussi-Pekka Tolonen
5PUBLICATIONS
25CO-AUTHORS
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Publications (5)
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|Oct 23, 2025
A Novel Homozygous KIF1C Variant in 2 Cases of Spastic Ataxia Type 2.Katariina Granath, Salla M Kangas, Sanna Huhtaniska
|May 06, 2025
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.Katariina Granath, Sanna Huhtaniska, Juulia Ellonen
|Sep 21, 2024
Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3.Elisa Rahikkala, Jonna Komulainen-Ebrahim, Jussi-Pekka Tolonen
|Nov 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan
|May 19, 2020
Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?Jussi-Pekka Tolonen, Anne Hekkala, Outi Kuismin
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Frequent Collaborators
3 joint publications
Elisa Rahikkala
2 joint publications
Johanna Uusimaa
2 joint publications
Reetta Hinttala
2 joint publications
Heli Helander
2 joint publications
Salla M Kangas
2 joint publications
Katariina Granath
2 joint publications
Sanna Huhtaniska
1 joint publications
George K Tofaris
1 joint publications
Henry Houlden
1 joint publications
Veli-Pekka Ronkainen
