PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Annals of Child Neurology10.26815/acn.2022.001782022303152-154TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 in a Newborn with Refractory Myoclonic SeizuresJun Chul Byun, Jung Sook Ha, Chun Soo Kimhttp://annchildneurol.org/upload/pdf/acn-2022-00178.pdf, http://annchildneurol.org/journal/view.php?doi=10.26815/acn.2022.00178, http://annchildneurol.org/upload/pdf/acn-2022-00178.pdf
Frontiers in Pediatrics10.3389/fped.2018.0000120186TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor RetardationIliyana Hristova Pacheva, Tihomir Todorov, Ivan Ivanov, Desislava Tartova, Katerina Gaberova, Albena Todorova, Diana Dimitrovahttp://journal.frontiersin.org/article/10.3389/fped.2018.00001/full
The Cerebellum10.1007/s12311-022-01457-62022TSEN54 Gene-Related Pontocerebellar-Hypoplasia and Role of Prenatal MR Imaging: Besides the Common Posterior Fossa Cystic MalformationsMario Tortora, Luigina Spaccini, Mariano Lanna, Marta Zambon, Giana Izzo, Cecilia Parazzini, Andrea Righinihttps://link.springer.com/content/pdf/10.1007/s12311-022-01457-6.pdf, https://link.springer.com/article/10.1007/s12311-022-01457-6/fulltext.html, https://link.springer.com/content/pdf/10.1007/s12311-022-01457-6.pdf
Pediatric Neurology10.1016/j.pediatrneurol.2011.05.0092011453185-188Novel TSEN54 Mutation Causing Pontocerebellar Hypoplasia Type 4Laura I. Rudaks, Lynette Moore, Karen L. Shand, Christopher Wilkinson, Christopher P. Barnetthttps://api.elsevier.com/content/article/PII:S0887899411002141?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0887899411002141?httpAccept=text/plain
Acta Neuropathologica10.1007/s00401-011-0823-120111215671-673TSEN54 mutation in a child with pontocerebellar hypoplasia type 1Alessandro Simonati, Denise Cassandrini, Diana Bazan, Filippo Maria Santorellihttp://link.springer.com/content/pdf/10.1007/s00401-011-0823-1.pdf, http://link.springer.com/article/10.1007/s00401-011-0823-1/fulltext.html, http://link.springer.com/content/pdf/10.1007/s00401-011-0823-1
Medicina Clínica10.1016/j.medcli.2019.10.0052021156294-95A new mutation in the SEPSECS gene related to pontocerebellar hypoplasia type 2DMarta Arrudi-Moreno, Alba Fernández-Gómez, José L. Peña-Segurahttps://api.elsevier.com/content/article/PII:S0025775319305925?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0025775319305925?httpAccept=text/plain
European Journal of Human Genetics10.1038/ejhg.2011.82011196724-726TSEN54 mutations cause pontocerebellar hypoplasia type 5Yasmin Namavar, David Chitayat, Peter G Barth, Fred van Ruissen, Marit B de Wissel, Bwee Tien Poll-The, Rachel Silver, Frank Baashttp://www.nature.com/articles/ejhg20118.pdf, http://www.nature.com/articles/ejhg20118, http://www.nature.com/articles/ejhg20118.pdf
Journal of Child Neurology10.1177/08830738124700022013294520-525Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2Roberta Battini, Stefano D’Arrigo, Denise Cassandrini, Andrea Guzzetta, Chiara Fiorillo, Chiara Pantaleoni, Alessandro Romano, Enrico Alfei, Giovanni Cioni, Filippo M. Santorellihttp://journals.sagepub.com/doi/pdf/10.1177/0883073812470002, http://journals.sagepub.com/doi/full-xml/10.1177/0883073812470002, http://journals.sagepub.com/doi/pdf/10.1177/0883073812470002
Medicina Clínica (English Edition)10.1016/j.medcle.2019.10.0172021156294-95A new mutation in the SEPSECS gene related to pontocerebellar hypoplasia type 2DMarta Arrudi-Moreno, Alba Fernández-Gómez, José L. Peña-Segurahttps://api.elsevier.com/content/article/PII:S2387020620306082?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S2387020620306082?httpAccept=text/plain
The Cerebellum10.1007/s12311-022-01470-92022Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS GeneRan Zhao, Limin Zhang, Hong Luhttps://link.springer.com/content/pdf/10.1007/s12311-022-01470-9.pdf, https://link.springer.com/article/10.1007/s12311-022-01470-9/fulltext.html, https://link.springer.com/content/pdf/10.1007/s12311-022-01470-9.pdf