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Year Number of Results
1997 2
2004 1
2006 1
2007 3
2012 1
2019 1
2020 1
2022 1
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PubMed for id: 343995

11 results

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Page 1
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Polla DL, Rahikkala E, Bode MK, Määttä T, Varilo T, Loman T, Philips AK, Kurki M, Palotie A, Körkkö J, Vieira P, Avela K, Jacquemin V, Pirson I, Abramowicz M, de Brouwer APM, Kuismin O, van Bokhoven H, Järvelä I. Polla DL, et al. Eur J Hum Genet. 2019 Aug;27(8):1235-1243. doi: 10.1038/s41431-019-0383-8. Epub 2019 Mar 26. Eur J Hum Genet. 2019. PMID: 30914828 Free PMC article.
Frontotemporal pachygyria-two new patients.
Avela K, Toiviainen-Salo S, Karttunen-Lewandowski P, Kauria L, Valanne L, Salonen-Kajander R. Avela K, et al. Eur J Med Genet. 2012 Dec;55(12):753-7. doi: 10.1016/j.ejmg.2012.09.007. Epub 2012 Sep 27. Eur J Med Genet. 2012. PMID: 23022981
Autosomal recessive frontotemporal pachygyria.
Ramirez D, Lammer EJ, Johnson CB, Peterson CD. Ramirez D, et al. Am J Med Genet A. 2004 Jan 30;124A(3):231-8. doi: 10.1002/ajmg.a.20388. Am J Med Genet A. 2004. PMID: 14708094 Review.
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Di Donato N, Guerrini R, Billington CJ, Barkovich AJ, Dinkel P, Freri E, Heide M, Gershon ES, Gertler TS, Hopkin RJ, Jacob S, Keedy SK, Kooshavar D, Lockhart PJ, Lohmann DR, Mahmoud IG, Parrini E, Schrock E, Severi G, Timms AE, Webster RI, Willis MJH, Zaki MS, Gleeson JG, Leventer RJ, Dobyns WB. Di Donato N, et al. Brain. 2022 Sep 14;145(9):3274-3287. doi: 10.1093/brain/awac164. Brain. 2022. PMID: 35769015 Free PMC article.
[Animal models of neurodegenerative diseases].
Langui D, Lachapelle F, Duyckaerts C. Langui D, et al. Med Sci (Paris). 2007 Feb;23(2):180-6. doi: 10.1051/medsci/2007232180. Med Sci (Paris). 2007. PMID: 17291428 Free article. Review. French.
Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Polla DL, Rahikkala E, Bode MK, Määttä T, Varilo T, Loman T, Philips AK, Kurki M, Palotie A, Körkkö J, Vieira P, Avela K, Jacquemin V, Pirson I, Abramowicz M, de Brouwer APM, Kuismin O, van Bokhoven H, Järvelä I. Polla DL, et al. Eur J Hum Genet. 2020 Apr;28(4):532. doi: 10.1038/s41431-019-0491-5. Eur J Hum Genet. 2020. PMID: 31506600 Free PMC article.
11 results