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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1995 1
1996 1
1997 2
1999 1
2000 1
2011 2
2012 2
2013 1
2014 1
2015 6
2016 3
2017 2
2018 3
2019 2
2020 3
2021 4
2022 1
2023 2
2024 0

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32 results

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Page 1
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
Rönkkö J, Molchanova S, Revah-Politi A, Pereira EM, Auranen M, Toppila J, Kvist J, Ludwig A, Neumann J, Bultynck G, Humblet-Baron S, Liston A, Paetau A, Rivera C, Harms MB, Tyynismaa H, Ylikallio E. Rönkkö J, et al. Among authors: toppila j. Ann Clin Transl Neurol. 2020 Oct;7(10):1962-1972. doi: 10.1002/acn3.51190. Epub 2020 Sep 19. Ann Clin Transl Neurol. 2020. PMID: 32949214 Free PMC article.
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.
Auranen M, Ylikallio E, Shcherbii M, Paetau A, Kiuru-Enari S, Toppila JP, Tyynismaa H. Auranen M, et al. Among authors: toppila jp. Neurol Genet. 2015 Mar 26;1(1):e1. doi: 10.1212/NXG.0000000000000003. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066538 Free PMC article.
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
Suriyanarayanan S, Auranen M, Toppila J, Paetau A, Shcherbii M, Palin E, Wei Y, Lohioja T, Schlotter-Weigel B, Schön U, Abicht A, Rautenstrauss B, Tyynismaa H, Walter MC, Hornemann T, Ylikallio E. Suriyanarayanan S, et al. Among authors: toppila j. Neuromolecular Med. 2016 Mar;18(1):81-90. doi: 10.1007/s12017-015-8379-1. Epub 2015 Nov 16. Neuromolecular Med. 2016. PMID: 26573920
Association of deranged cerebrovascular reactivity with brain injury following cardiac arrest: a post-hoc analysis of the COMACARE trial.
Laurikkala J, Aneman A, Peng A, Reinikainen M, Pham P, Jakkula P, Hästbacka J, Wilkman E, Loisa P, Toppila J, Birkelund T, Blennow K, Zetterberg H, Skrifvars MB. Laurikkala J, et al. Among authors: toppila j. Crit Care. 2021 Sep 28;25(1):350. doi: 10.1186/s13054-021-03764-6. Crit Care. 2021. PMID: 34583763 Free PMC article. Clinical Trial.
32 results