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

Year Number of Results
1993 1
2002 7
2003 5
2004 6
2005 9
2006 7
2007 7
2008 3
2009 10
2010 5
2011 7
2012 10
2013 7
2014 6
2015 10
2016 14
2017 5
2018 6
2019 4
2020 6
2021 6
2022 3
2023 2
2024 1

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132 results

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Page 1
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. Among authors: lehesjoki ae. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
Progressive Myoclonic Epilepsy Type 1.
Lehesjoki AE, Kälviäinen R. Lehesjoki AE, et al. 2004 Jun 24 [updated 2020 Jul 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Jun 24 [updated 2020 Jul 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301321 Free Books & Documents. Review.
Genetic heterogeneity in infantile spasms.
Muir AM, Myers CT, Nguyen NT, Saykally J, Craiu D, De Jonghe P, Helbig I, Hoffman-Zacharska D, Guerrini R, Lehesjoki AE, Marini C, Møller RS, Serratosa J, Štěrbová K, Striano P, von Spiczak S, Weckhuysen S, Mefford HC; EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen. Muir AM, et al. Among authors: lehesjoki ae. Epilepsy Res. 2019 Oct;156:106181. doi: 10.1016/j.eplepsyres.2019.106181. Epub 2019 Jul 29. Epilepsy Res. 2019. PMID: 31394400 Free PMC article.
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.
Canafoglia L, Franceschetti S, Gambardella A, Striano P, Giallonardo AT, Tinuper P, Di Bonaventura C, Michelucci R, Ferlazzo E, Granata T, Magaudda A, Licchetta L, Filla A, La Neve A, Riguzzi P, Cantisani TA, Fanella M, Castellotti B, Gellera C, Bahlo M, Zara F, Courage C, Lehesjoki AE, Oliver KL, Berkovic SF. Canafoglia L, et al. Among authors: lehesjoki ae. Neurol Genet. 2021 Nov 12;7(6):e641. doi: 10.1212/NXG.0000000000000641. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34786481 Free PMC article.
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH; Italian Undiagnosed Diseases Network; Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF; ATPase Consortium; Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C. Bott LC, et al. Among authors: lehesjoki ae. Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021. Brain Commun. 2021. PMID: 34909687 Free PMC article.
Mulibrey nanism--a novel peroxisomal disorder.
Kallijärvi J, Lehesjoki AE, Lipsanen-Nyman M. Kallijärvi J, et al. Among authors: lehesjoki ae. Adv Exp Med Biol. 2003;544:31-7. doi: 10.1007/978-1-4419-9072-3_3. Adv Exp Med Biol. 2003. PMID: 14713209 Review. No abstract available.
Molecular background of EPM1-Unverricht-Lundborg disease.
Joensuu T, Lehesjoki AE, Kopra O. Joensuu T, et al. Among authors: lehesjoki ae. Epilepsia. 2008 Apr;49(4):557-63. doi: 10.1111/j.1528-1167.2007.01422.x. Epub 2007 Nov 19. Epilepsia. 2008. PMID: 18028412 Free article. Review.
The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. Johannesen KM, et al. Among authors: lehesjoki ae. Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10. Epilepsia. 2019. PMID: 30968951
132 results