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Items: 29

1.

De novo variants in neurodevelopmental disorders with epilepsy.

Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S; EuroEPINOMICS RES Consortium, Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR.

Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.

PMID:
29942082
2.

Defining the phenotypic spectrum of SLC6A1 mutations.

Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS.

Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8.

PMID:
29315614
3.

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.

J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.

4.

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

Muona M, Ishimura R, Laari A, Ichimura Y, Linnankivi T, Keski-Filppula R, Herva R, Rantala H, Paetau A, Pöyhönen M, Obata M, Uemura T, Karhu T, Bizen N, Takebayashi H, McKee S, Parker MJ, Akawi N, McRae J, Hurles ME; DDD Study, Kuismin O, Kurki MI, Anttonen AK, Tanaka K, Palotie A, Waguri S, Lehesjoki AE, Komatsu M.

Am J Hum Genet. 2016 Sep 1;99(3):683-694. doi: 10.1016/j.ajhg.2016.06.020. Epub 2016 Aug 18.

5.

Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.

Linnankivi T, Neupane N, Richter U, Isohanni P, Tyynismaa H.

Hum Mutat. 2016 Sep;37(9):884-8. doi: 10.1002/humu.23021. Epub 2016 Jun 27.

PMID:
27279129
6.

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

Anttonen AK, Hilander T, Linnankivi T, Isohanni P, French RL, Liu Y, Simonović M, Söll D, Somer M, Muth-Pawlak D, Corthals GL, Laari A, Ylikallio E, Lähde M, Valanne L, Lönnqvist T, Pihko H, Paetau A, Lehesjoki AE, Suomalainen A, Tyynismaa H.

Neurology. 2015 Jul 28;85(4):306-15. doi: 10.1212/WNL.0000000000001787. Epub 2015 Jun 26.

7.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium, Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR.

Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9.

8.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI.

Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16.

9.

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.

van Berge L, Hamilton EM, Linnankivi T, Uziel G, Steenweg ME, Isohanni P, Wolf NI, Krägeloh-Mann I, Brautaset NJ, Andrews PI, de Jong BA, al Ghamdi M, van Wieringen WN, Tannous BA, Hulleman E, Würdinger T, van Berkel CG, Polder E, Abbink TE, Struys EA, Scheper GC, van der Knaap MS; LBSL Research Group.

Brain. 2014 Apr;137(Pt 4):1019-29. doi: 10.1093/brain/awu026. Epub 2014 Feb 24.

PMID:
24566671
10.

Erratum to: High-resolution SNP array analysis of patients with developmental disorder and normal array CGH result.

Siggberg L, Ala-Mello S, Linnankivi T, Avela K, Scheinin I, Kristiansson K, Lahermo P, Hietala M, Metsähonkala L, Kuusinen E, Laaksonen M, Saarela J, Knuutila S.

BMC Med Genet. 2014 Nov 18;15:124. doi: 10.1186/s12881-014-0124-3. No abstract available.

11.

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium.

Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24.

12.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S.

Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11.

PMID:
23933819
13.

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.

Linnankivi T, Mäkitie O, Valanne L, Toiviainen-Salo S.

Am J Med Genet A. 2012 Dec;158A(12):3119-25. doi: 10.1002/ajmg.a.35642. Epub 2012 Nov 19.

PMID:
23165795
14.

High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results.

Siggberg L, Ala-Mello S, Linnankivi T, Avela K, Scheinin I, Kristiansson K, Lahermo P, Hietala M, Metsähonkala L, Kuusinen E, Laaksonen M, Saarela J, Khuutila S.

BMC Med Genet. 2012 Sep 17;13:84. doi: 10.1186/1471-2350-13-84. Erratum in: BMC Med Genet. 2014;15:124. Multiple author names corrected.

15.

Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia.

Linnankivi T, Polvi A, Mäkitie O, Lehesjoki AE, Kivelä T.

Bone Marrow Transplant. 2013 Jan;48(1):153. doi: 10.1038/bmt.2012.107. Epub 2012 Jun 18. No abstract available.

PMID:
22705805
16.

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.

Grapp M, Just IA, Linnankivi T, Wolf P, Lücke T, Häusler M, Gärtner J, Steinfeld R.

Brain. 2012 Jul;135(Pt 7):2022-31. doi: 10.1093/brain/aws122. Epub 2012 May 13.

PMID:
22586289
17.

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE.

Am J Hum Genet. 2012 Mar 9;90(3):540-9. doi: 10.1016/j.ajhg.2012.02.002. Epub 2012 Mar 1.

18.

Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype.

Toiviainen-Salo S, Linnankivi T, Saarinen A, Mäyränpää MK, Karikoski R, Mäkitie O.

Am J Med Genet A. 2011 Jun;155A(6):1322-8. doi: 10.1002/ajmg.a.33994. Epub 2011 Apr 26.

PMID:
21523908
19.

POLG1 manifestations in childhood.

Isohanni P, Hakonen AH, Euro L, Paetau I, Linnankivi T, Liukkonen E, Wallden T, Luostarinen L, Valanne L, Paetau A, Uusimaa J, Lönnqvist T, Suomalainen A, Pihko H.

Neurology. 2011 Mar 1;76(9):811-5. doi: 10.1212/WNL.0b013e31820e7b25.

PMID:
21357833
20.

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.

Isohanni P, Linnankivi T, Buzkova J, Lönnqvist T, Pihko H, Valanne L, Tienari PJ, Elovaara I, Pirttilä T, Reunanen M, Koivisto K, Marjavaara S, Suomalainen A.

J Med Genet. 2010 Jan;47(1):66-70. doi: 10.1136/jmg.2009.068221. Epub 2009 Jul 9.

PMID:
19592391
21.

Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology.

van der Knaap MS, Linnankivi T, Paetau A, Feigenbaum A, Wakusawa K, Haginoya K, Köhler W, Henneke M, Dinopoulos A, Grattan-Smith P, Brockmann K, Schiffmann R, Blaser S.

Neurology. 2007 Jul 10;69(2):166-71.

PMID:
17620549
22.

Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations.

Dostal A, Linnankivi T, Somer M, Kähkönen M, Litzman J, Tienari P.

Int J Immunogenet. 2007 Jun;34(3):143-7.

PMID:
17504501
23.

Cerebroretinal microangiopathy with calcifications and cysts.

Linnankivi T, Valanne L, Paetau A, Alafuzoff I, Hakumäki JM, Kivelä T, Lönnqvist T, Mäkitie O, Pääkkönen L, Vainionpää L, Vanninen R, Herva R, Pihko H.

Neurology. 2006 Oct 24;67(8):1437-43. Epub 2006 Aug 30.

PMID:
16943371
24.

18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

Linnankivi T, Tienari P, Somer M, Kähkönen M, Lönnqvist T, Valanne L, Pihko H.

Am J Med Genet A. 2006 Feb 15;140(4):331-9.

PMID:
16419126
25.

Five new cases of a recently described leukoencephalopathy with high brain lactate.

Linnankivi T, Lundbom N, Autti T, Häkkinen AM, Koillinen H, Kuusi T, Lönnqvist T, Sainio K, Valanne L, Aärimaa T, Pihko H.

Neurology. 2004 Aug 24;63(4):688-92.

PMID:
15326244
26.

18q-syndrome: brain MRI shows poor differentiation of gray and white matter on T2-weighted images.

Linnankivi TT, Autti TH, Pihko SH, Somer MS, Tienari PJ, Wirtavuori KO, Valanne LK.

J Magn Reson Imaging. 2003 Oct;18(4):414-9.

PMID:
14508777
27.

A case of Salla disease with involvement of the cerebellar white matter.

Linnankivi T, Lönnqvist T, Autti T.

Neuroradiology. 2003 Feb;45(2):107-9. Epub 2003 Jan 16.

PMID:
12592494
28.

[Post-infectious encephalomyelitis].

Linnankivi T, Valanne L, Lönnqvist T, Pihko H.

Duodecim. 2000;116(18):2019-24. Finnish. No abstract available.

PMID:
12017618
29.

Psychological symptoms and sleep disturbances in neuronal ceroid-lipofuscinoses (NCL).

Santavuori P, Linnankivi T, Jaeken J, Vanhanen SL, Telakivi T, Heiskala H.

J Inherit Metab Dis. 1993;16(2):245-8. Review. No abstract available.

PMID:
8411971

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