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Items: 40

1.

Possible role of SCN4A skeletal muscle mutation in apnea during seizure.

Türkdoğan D, Matthews E, Usluer S, Gündoğdu A, Uluç K, Mannikko R, Hanna MG, Sisodiya SM, Çağlayan HS.

Epilepsia Open. 2019 Jul 1;4(3):498-503. doi: 10.1002/epi4.12347. eCollection 2019 Sep.

PMID:
31440732
2.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.

Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.

3.

Genotype-phenotype association in patients with SCN4A mutation - Authors' reply.

Matthews E, Männikkö R, Behr E, Hanna MG.

Lancet. 2019 Jun 8;393(10188):2301-2302. doi: 10.1016/S0140-6736(19)30214-4. Epub 2019 Jun 6. No abstract available.

PMID:
31180027
4.

Understanding the Relationships Between HIV and Child Marriage: Conclusions From an Expert Consultation.

Petroni S, Yates R, Siddiqi M, Luo C, Finnie A, Walker D, Welbourn A, Langevin-Falcon C, Cappa C, Palermo T, Ngo TD, Baird S, Makokha J, Singh S, Paul M, Ndlovu P, Mannikko R, Raj A, Ameyan W, Okondo H, Chandra-Mouli V.

J Adolesc Health. 2019 Jun;64(6):694-696. doi: 10.1016/j.jadohealth.2019.02.001. No abstract available.

5.

Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.

Elia N, Palmio J, Castañeda MS, Shieh PB, Quinonez M, Suominen T, Hanna MG, Männikkö R, Udd B, Cannon SC.

Neurology. 2019 Mar 26;92(13):e1405-e1415. doi: 10.1212/WNL.0000000000007185. Epub 2019 Mar 1.

6.

Digitally supported program for type 2 diabetes risk identification and risk reduction in real-world setting: protocol for the StopDia model and randomized controlled trial.

Pihlajamäki J, Männikkö R, Tilles-Tirkkonen T, Karhunen L, Kolehmainen M, Schwab U, Lintu N, Paananen J, Järvenpää R, Harjumaa M, Martikainen J, Kohl J, Poutanen K, Ermes M, Absetz P, Lindström J, Lakka TA; StopDia study group.

BMC Public Health. 2019 Mar 1;19(1):255. doi: 10.1186/s12889-019-6574-y.

7.

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.

Sampedro Castañeda M, Zanoteli E, Scalco RS, Scaramuzzi V, Marques Caldas V, Conti Reed U, da Silva AMS, O'Callaghan B, Phadke R, Bugiardini E, Sud R, McCall S, Hanna MG, Poulsen H, Männikkö R, Matthews E.

Brain. 2018 Dec 1;141(12):3308-3318. doi: 10.1093/brain/awy283.

8.

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.

Luo S, Sampedro Castañeda M, Matthews E, Sud R, Hanna MG, Sun J, Song J, Lu J, Qiao K, Zhao C, Männikkö R.

Sci Rep. 2018 Jun 26;8(1):9714. doi: 10.1038/s41598-018-27822-2.

9.

Spider toxin inhibits gating pore currents underlying periodic paralysis.

Männikkö R, Shenkarev ZO, Thor MG, Berkut AA, Myshkin MY, Paramonov AS, Kulbatskii DS, Kuzmin DA, Sampedro Castañeda M, King L, Wilson ER, Lyukmanova EN, Kirpichnikov MP, Schorge S, Bosmans F, Hanna MG, Kullmann DM, Vassilevski AA.

Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):4495-4500. doi: 10.1073/pnas.1720185115. Epub 2018 Apr 10.

10.

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

Männikkö R, Wong L, Tester DJ, Thor MG, Sud R, Kullmann DM, Sweeney MG, Leu C, Sisodiya SM, FitzPatrick DR, Evans MJ, Jeffrey IJM, Tfelt-Hansen J, Cohen MC, Fleming PJ, Jaye A, Simpson MA, Ackerman MJ, Hanna MG, Behr ER, Matthews E.

Lancet. 2018 Apr 14;391(10129):1483-1492. doi: 10.1016/S0140-6736(18)30021-7. Epub 2018 Apr 5.

11.

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

Graff M, Scott RA, Justice AE, Young KL, Feitosa MF, Barata L, Winkler TW, Chu AY, Mahajan A, Hadley D, Xue L, Workalemahu T, Heard-Costa NL, den Hoed M, Ahluwalia TS, Qi Q, Ngwa JS, Renström F, Quaye L, Eicher JD, Hayes JE, Cornelis M, Kutalik Z, Lim E, Luan J, Huffman JE, Zhang W, Zhao W, Griffin PJ, Haller T, Ahmad S, Marques-Vidal PM, Bien S, Yengo L, Teumer A, Smith AV, Kumari M, Harder MN, Justesen JM, Kleber ME, Hollensted M, Lohman K, Rivera NV, Whitfield JB, Zhao JH, Stringham HM, Lyytikäinen LP, Huppertz C, Willemsen G, Peyrot WJ, Wu Y, Kristiansson K, Demirkan A, Fornage M, Hassinen M, Bielak LF, Cadby G, Tanaka T, Mägi R, van der Most PJ, Jackson AU, Bragg-Gresham JL, Vitart V, Marten J, Navarro P, Bellis C, Pasko D, Johansson Å, Snitker S, Cheng YC, Eriksson J, Lim U, Aadahl M, Adair LS, Amin N, Balkau B, Auvinen J, Beilby J, Bergman RN, Bergmann S, Bertoni AG, Blangero J, Bonnefond A, Bonnycastle LL, Borja JB, Brage S, Busonero F, Buyske S, Campbell H, Chines PS, Collins FS, Corre T, Smith GD, Delgado GE, Dueker N, Dörr M, Ebeling T, Eiriksdottir G, Esko T, Faul JD, Fu M, Færch K, Gieger C, Gläser S, Gong J, Gordon-Larsen P, Grallert H, Grammer TB, Grarup N, van Grootheest G, Harald K, Hastie ND, Havulinna AS, Hernandez D, Hindorff L, Hocking LJ, Holmens OL, Holzapfel C, Hottenga JJ, Huang J, Huang T, Hui J, Huth C, Hutri-Kähönen N, James AL, Jansson JO, Jhun MA, Juonala M, Kinnunen L, Koistinen HA, Kolcic I, Komulainen P, Kuusisto J, Kvaløy K, Kähönen M, Lakka TA, Launer LJ, Lehne B, Lindgren CM, Lorentzon M, Luben R, Marre M, Milaneschi Y, Monda KL, Montgomery GW, De Moor MHM, Mulas A, Müller-Nurasyid M, Musk AW, Männikkö R, Männistö S, Narisu N, Nauck M, Nettleton JA, Nolte IM, Oldehinkel AJ, Olden M, Ong KK, Padmanabhan S, Paternoster L, Perez J, Perola M, Peters A, Peters U, Peyser PA, Prokopenko I, Puolijoki H, Raitakari OT, Rankinen T, Rasmussen-Torvik LJ, Rawal R, Ridker PM, Rose LM, Rudan I, Sarti C, Sarzynski MA, Savonen K, Scott WR, Sanna S, Shuldiner AR, Sidney S, Silbernagel G, Smith BH, Smith JA, Snieder H, Stančáková A, Sternfeld B, Swift AJ, Tammelin T, Tan ST, Thorand B, Thuillier D, Vandenput L, Vestergaard H, van Vliet-Ostaptchouk JV, Vohl MC, Völker U, Waeber G, Walker M, Wild S, Wong A, Wright AF, Zillikens MC, Zubair N, Haiman CA, Lemarchand L, Gyllensten U, Ohlsson C, Hofman A, Rivadeneira F, Uitterlinden AG, Pérusse L, Wilson JF, Hayward C, Polasek O, Cucca F, Hveem K, Hartman CA, Tönjes A, Bandinelli S, Palmer LJ, Kardia SLR, Rauramaa R, Sørensen TIA, Tuomilehto J, Salomaa V, Penninx BWJH, de Geus EJC, Boomsma DI, Lehtimäki T, Mangino M, Laakso M, Bouchard C, Martin NG, Kuh D, Liu Y, Linneberg A, März W, Strauch K, Kivimäki M, Harris TB, Gudnason V, Völzke H, Qi L, Järvelin MR, Chambers JC, Kooner JS, Froguel P, Kooperberg C, Vollenweider P, Hallmans G, Hansen T, Pedersen O, Metspalu A, Wareham NJ, Langenberg C, Weir DR, Porteous DJ, Boerwinkle E, Chasman DI; CHARGE Consortium; EPIC-InterAct Consortium; PAGE Consortium, Abecasis GR, Barroso I, McCarthy MI, Frayling TM, O'Connell JR, van Duijn CM, Boehnke M, Heid IM, Mohlke KL, Strachan DP, Fox CS, Liu CT, Hirschhorn JN, Klein RJ, Johnson AD, Borecki IB, Franks PW, North KE, Cupples LA, Loos RJF, Kilpeläinen TO.

PLoS Genet. 2017 Aug 23;13(8):e1006972. doi: 10.1371/journal.pgen.1006972. eCollection 2017 Aug.

12.

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

Graff M, Scott RA, Justice AE, Young KL, Feitosa MF, Barata L, Winkler TW, Chu AY, Mahajan A, Hadley D, Xue L, Workalemahu T, Heard-Costa NL, den Hoed M, Ahluwalia TS, Qi Q, Ngwa JS, Renström F, Quaye L, Eicher JD, Hayes JE, Cornelis M, Kutalik Z, Lim E, Luan J, Huffman JE, Zhang W, Zhao W, Griffin PJ, Haller T, Ahmad S, Marques-Vidal PM, Bien S, Yengo L, Teumer A, Smith AV, Kumari M, Harder MN, Justesen JM, Kleber ME, Hollensted M, Lohman K, Rivera NV, Whitfield JB, Zhao JH, Stringham HM, Lyytikäinen LP, Huppertz C, Willemsen G, Peyrot WJ, Wu Y, Kristiansson K, Demirkan A, Fornage M, Hassinen M, Bielak LF, Cadby G, Tanaka T, Mägi R, van der Most PJ, Jackson AU, Bragg-Gresham JL, Vitart V, Marten J, Navarro P, Bellis C, Pasko D, Johansson Å, Snitker S, Cheng YC, Eriksson J, Lim U, Aadahl M, Adair LS, Amin N, Balkau B, Auvinen J, Beilby J, Bergman RN, Bergmann S, Bertoni AG, Blangero J, Bonnefond A, Bonnycastle LL, Borja JB, Brage S, Busonero F, Buyske S, Campbell H, Chines PS, Collins FS, Corre T, Smith GD, Delgado GE, Dueker N, Dörr M, Ebeling T, Eiriksdottir G, Esko T, Faul JD, Fu M, Færch K, Gieger C, Gläser S, Gong J, Gordon-Larsen P, Grallert H, Grammer TB, Grarup N, van Grootheest G, Harald K, Hastie ND, Havulinna AS, Hernandez D, Hindorff L, Hocking LJ, Holmens OL, Holzapfel C, Hottenga JJ, Huang J, Huang T, Hui J, Huth C, Hutri-Kähönen N, James AL, Jansson JO, Jhun MA, Juonala M, Kinnunen L, Koistinen HA, Kolcic I, Komulainen P, Kuusisto J, Kvaløy K, Kähönen M, Lakka TA, Launer LJ, Lehne B, Lindgren CM, Lorentzon M, Luben R, Marre M, Milaneschi Y, Monda KL, Montgomery GW, De Moor MHM, Mulas A, Müller-Nurasyid M, Musk AW, Männikkö R, Männistö S, Narisu N, Nauck M, Nettleton JA, Nolte IM, Oldehinkel AJ, Olden M, Ong KK, Padmanabhan S, Paternoster L, Perez J, Perola M, Peters A, Peters U, Peyser PA, Prokopenko I, Puolijoki H, Raitakari OT, Rankinen T, Rasmussen-Torvik LJ, Rawal R, Ridker PM, Rose LM, Rudan I, Sarti C, Sarzynski MA, Savonen K, Scott WR, Sanna S, Shuldiner AR, Sidney S, Silbernagel G, Smith BH, Smith JA, Snieder H, Stančáková A, Sternfeld B, Swift AJ, Tammelin T, Tan ST, Thorand B, Thuillier D, Vandenput L, Vestergaard H, van Vliet-Ostaptchouk JV, Vohl MC, Völker U, Waeber G, Walker M, Wild S, Wong A, Wright AF, Zillikens MC, Zubair N, Haiman CA, Lemarchand L, Gyllensten U, Ohlsson C, Hofman A, Rivadeneira F, Uitterlinden AG, Pérusse L, Wilson JF, Hayward C, Polasek O, Cucca F, Hveem K, Hartman CA, Tönjes A, Bandinelli S, Palmer LJ, Kardia SLR, Rauramaa R, Sørensen TIA, Tuomilehto J, Salomaa V, Penninx BWJH, de Geus EJC, Boomsma DI, Lehtimäki T, Mangino M, Laakso M, Bouchard C, Martin NG, Kuh D, Liu Y, Linneberg A, März W, Strauch K, Kivimäki M, Harris TB, Gudnason V, Völzke H, Qi L, Järvelin MR, Chambers JC, Kooner JS, Froguel P, Kooperberg C, Vollenweider P, Hallmans G, Hansen T, Pedersen O, Metspalu A, Wareham NJ, Langenberg C, Weir DR, Porteous DJ, Boerwinkle E, Chasman DI; CHARGE Consortium; EPIC-InterAct Consortium; PAGE Consortium, Abecasis GR, Barroso I, McCarthy MI, Frayling TM, O'Connell JR, van Duijn CM, Boehnke M, Heid IM, Mohlke KL, Strachan DP, Fox CS, Liu CT, Hirschhorn JN, Klein RJ, Johnson AD, Borecki IB, Franks PW, North KE, Cupples LA, Loos RJF, Kilpeläinen TO.

PLoS Genet. 2017 Apr 27;13(4):e1006528. doi: 10.1371/journal.pgen.1006528. eCollection 2017 Apr. Erratum in: PLoS Genet. 2017 Aug 23;13(8):e1006972.

13.

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

Justice AE, Winkler TW, Feitosa MF, Graff M, Fisher VA, Young K, Barata L, Deng X, Czajkowski J, Hadley D, Ngwa JS, Ahluwalia TS, Chu AY, Heard-Costa NL, Lim E, Perez J, Eicher JD, Kutalik Z, Xue L, Mahajan A, Renström F, Wu J, Qi Q, Ahmad S, Alfred T, Amin N, Bielak LF, Bonnefond A, Bragg J, Cadby G, Chittani M, Coggeshall S, Corre T, Direk N, Eriksson J, Fischer K, Gorski M, Neergaard Harder M, Horikoshi M, Huang T, Huffman JE, Jackson AU, Justesen JM, Kanoni S, Kinnunen L, Kleber ME, Komulainen P, Kumari M, Lim U, Luan J, Lyytikäinen LP, Mangino M, Manichaikul A, Marten J, Middelberg RPS, Müller-Nurasyid M, Navarro P, Pérusse L, Pervjakova N, Sarti C, Smith AV, Smith JA, Stančáková A, Strawbridge RJ, Stringham HM, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van der Most PJ, Van Vliet-Ostaptchouk JV, Vedantam SL, Verweij N, Vink JM, Vitart V, Wu Y, Yengo L, Zhang W, Hua Zhao J, Zimmermann ME, Zubair N, Abecasis GR, Adair LS, Afaq S, Afzal U, Bakker SJL, Bartz TM, Beilby J, Bergman RN, Bergmann S, Biffar R, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Braga D, Buckley BM, Buyske S, Campbell H, Chambers JC, Collins FS, Curran JE, de Borst GJ, de Craen AJM, de Geus EJC, Dedoussis G, Delgado GE, den Ruijter HM, Eiriksdottir G, Eriksson AL, Esko T, Faul JD, Ford I, Forrester T, Gertow K, Gigante B, Glorioso N, Gong J, Grallert H, Grammer TB, Grarup N, Haitjema S, Hallmans G, Hamsten A, Hansen T, Harris TB, Hartman CA, Hassinen M, Hastie ND, Heath AC, Hernandez D, Hindorff L, Hocking LJ, Hollensted M, Holmen OL, Homuth G, Jan Hottenga J, Huang J, Hung J, Hutri-Kähönen N, Ingelsson E, James AL, Jansson JO, Jarvelin MR, Jhun MA, Jørgensen ME, Juonala M, Kähönen M, Karlsson M, Koistinen HA, Kolcic I, Kolovou G, Kooperberg C, Krämer BK, Kuusisto J, Kvaløy K, Lakka TA, Langenberg C, Launer LJ, Leander K, Lee NR, Lind L, Lindgren CM, Linneberg A, Lobbens S, Loh M, Lorentzon M, Luben R, Lubke G, Ludolph-Donislawski A, Lupoli S, Madden PAF, Männikkö R, Marques-Vidal P, Martin NG, McKenzie CA, McKnight B, Mellström D, Menni C, Montgomery GW, Musk AB, Narisu N, Nauck M, Nolte IM, Oldehinkel AJ, Olden M, Ong KK, Padmanabhan S, Peyser PA, Pisinger C, Porteous DJ, Raitakari OT, Rankinen T, Rao DC, Rasmussen-Torvik LJ, Rawal R, Rice T, Ridker PM, Rose LM, Bien SA, Rudan I, Sanna S, Sarzynski MA, Sattar N, Savonen K, Schlessinger D, Scholtens S, Schurmann C, Scott RA, Sennblad B, Siemelink MA, Silbernagel G, Slagboom PE, Snieder H, Staessen JA, Stott DJ, Swertz MA, Swift AJ, Taylor KD, Tayo BO, Thorand B, Thuillier D, Tuomilehto J, Uitterlinden AG, Vandenput L, Vohl MC, Völzke H, Vonk JM, Waeber G, Waldenberger M, Westendorp RGJ, Wild S, Willemsen G, Wolffenbuttel BHR, Wong A, Wright AF, Zhao W, Zillikens MC, Baldassarre D, Balkau B, Bandinelli S, Böger CA, Boomsma DI, Bouchard C, Bruinenberg M, Chasman DI, Chen YD, Chines PS, Cooper RS, Cucca F, Cusi D, Faire U, Ferrucci L, Franks PW, Froguel P, Gordon-Larsen P, Grabe HJ, Gudnason V, Haiman CA, Hayward C, Hveem K, Johnson AD, Wouter Jukema J, Kardia SLR, Kivimaki M, Kooner JS, Kuh D, Laakso M, Lehtimäki T, Marchand LL, März W, McCarthy MI, Metspalu A, Morris AP, Ohlsson C, Palmer LJ, Pasterkamp G, Pedersen O, Peters A, Peters U, Polasek O, Psaty BM, Qi L, Rauramaa R, Smith BH, Sørensen TIA, Strauch K, Tiemeier H, Tremoli E, van der Harst P, Vestergaard H, Vollenweider P, Wareham NJ, Weir DR, Whitfield JB, Wilson JF, Tyrrell J, Frayling TM, Barroso I, Boehnke M, Deloukas P, Fox CS, Hirschhorn JN, Hunter DJ, Spector TD, Strachan DP, van Duijn CM, Heid IM, Mohlke KL, Marchini J, Loos RJF, Kilpeläinen TO, Liu CT, Borecki IB, North KE, Cupples LA.

Nat Commun. 2017 Apr 26;8:14977. doi: 10.1038/ncomms14977.

14.

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene.

Palmio J, Sandell S, Hanna MG, Männikkö R, Penttilä S, Udd B.

Neurology. 2017 Apr 18;88(16):1520-1527. doi: 10.1212/WNL.0000000000003846. Epub 2017 Mar 22.

15.

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.

Gonorazky HD, Marshall CR, Al-Murshed M, Hazrati LN, Thor MG, Hanna MG, Männikkö R, Ray PN, Yoon G.

Neuromuscul Disord. 2017 Jun;27(6):574-580. doi: 10.1016/j.nmd.2017.02.001. Epub 2017 Feb 8.

PMID:
28262468
16.

De novo KCNA2 mutations cause hereditary spastic paraplegia.

Manole A, Männikkö R, Hanna MG; SYNAPS study group, Kullmann DM, Houlden H.

Ann Neurol. 2017 Feb;81(2):326-328. doi: 10.1002/ana.24866. No abstract available.

PMID:
28032718
17.

A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.

Mestre TA, Manole A, MacDonald H, Riazi S, Kraeva N, Hanna MG, Lang AE, Männikkö R, Yoon G.

Neurogenetics. 2016 Oct;17(4):245-249. Epub 2016 Jun 8.

PMID:
27271339
18.

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.

Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, Ashcroft FM, Hattersley AT.

Diabetologia. 2016 Jun;59(6):1162-6. doi: 10.1007/s00125-016-3921-8. Epub 2016 Mar 31.

19.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F.

Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22.

20.

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

Habbout K, Poulin H, Rivier F, Giuliano S, Sternberg D, Fontaine B, Eymard B, Morales RJ, Echenne B, King L, Hanna MG, Männikkö R, Chahine M, Nicole S, Bendahhou S.

Neurology. 2016 Jan 12;86(2):161-9. doi: 10.1212/WNL.0000000000002264. Epub 2015 Dec 11.

21.

The Nordic diet and cognition--The DR's EXTRA Study.

Männikkö R, Komulainen P, Schwab U, Heikkilä HM, Savonen K, Hassinen M, Hänninen T, Kivipelto M, Rauramaa R.

Br J Nutr. 2015 Jul;114(2):231-9.

PMID:
26104270
22.

Hypokalemic periodic paralysis: an omega pore mutation affects inactivation.

Männikkö R, Kullmann DM.

Channels (Austin). 2015;9(4):161. doi: 10.1080/19336950.2015.1062325. No abstract available.

23.

Pharmacological and electrophysiological characterization of AZSMO-23, an activator of the hERG K(+) channel.

Mannikko R, Bridgland-Taylor MH, Pye H, Swallow S, Abi-Gerges N, Morton MJ, Pollard CE.

Br J Pharmacol. 2015 Jun;172(12):3112-25. doi: 10.1111/bph.13115. Epub 2015 Apr 10.

24.

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.

Corrochano S, Männikkö R, Joyce PI, McGoldrick P, Wettstein J, Lassi G, Raja Rayan DL, Blanco G, Quinn C, Liavas A, Lionikas A, Amior N, Dick J, Healy EG, Stewart M, Carter S, Hutchinson M, Bentley L, Fratta P, Cortese A, Cox R, Brown SD, Tucci V, Wackerhage H, Amato AA, Greensmith L, Koltzenburg M, Hanna MG, Acevedo-Arozena A.

Brain. 2014 Dec;137(Pt 12):3171-85. doi: 10.1093/brain/awu292. Epub 2014 Oct 27.

25.

Muscle channelopathies: recent advances in genetics, pathophysiology and therapy.

Suetterlin K, Männikkö R, Hanna MG.

Curr Opin Neurol. 2014 Oct;27(5):583-90. doi: 10.1097/WCO.0000000000000127. Review.

PMID:
25188014
26.

Age, marital status and changes in dietary habits in later life: a 21-year follow-up among Finnish women.

Haapala I, Prättälä R, Patja K, Männikkö R, Hassinen M, Komulainen P, Rauramaa R.

Public Health Nutr. 2012 Jul;15(7):1174-81. doi: 10.1017/S1368980012000602. Epub 2012 Apr 2.

PMID:
22469058
27.

Dietary associations with prediabetic states--the DR's EXTRA Study (ISRCTN45977199).

Heikkilä HM, Schwab U, Krachler B, Männikkö R, Rauramaa R.

Eur J Clin Nutr. 2012 Jul;66(7):819-24. doi: 10.1038/ejcn.2012.23. Epub 2012 Mar 14.

PMID:
22415336
28.

Mice expressing a human K(ATP) channel mutation have altered channel ATP sensitivity but no cardiac abnormalities.

Clark R, Männikkö R, Stuckey DJ, Iberl M, Clarke K, Ashcroft FM.

Diabetologia. 2012 Apr;55(4):1195-204. doi: 10.1007/s00125-011-2428-6. Epub 2012 Jan 18.

29.

Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes.

Männikkö R, Flanagan SE, Sim X, Segal D, Hussain K, Ellard S, Hattersley AT, Ashcroft FM.

Diabetes. 2011 Jun;60(6):1813-22. doi: 10.2337/db10-1583.

30.

A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.

Männikkö R, Stansfeld PJ, Ashcroft AS, Hattersley AT, Sansom MS, Ellard S, Ashcroft FM.

J Physiol. 2011 Jul 1;589(Pt 13):3071-83. doi: 10.1113/jphysiol.2011.209700. Epub 2011 May 3.

31.

Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin.

Clark RH, McTaggart JS, Webster R, Mannikko R, Iberl M, Sim XL, Rorsman P, Glitsch M, Beeson D, Ashcroft FM.

Science. 2010 Jul 23;329(5990):458-61. doi: 10.1126/science.1186146. Epub 2010 Jul 1.

32.

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.

Shimomura K, Flanagan SE, Zadek B, Lethby M, Zubcevic L, Girard CA, Petz O, Mannikko R, Kapoor RR, Hussain K, Skae M, Clayton P, Hattersley A, Ellard S, Ashcroft FM.

EMBO Mol Med. 2009 Jun;1(3):166-77. doi: 10.1002/emmm.200900018.

33.

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

Männikkö R, Jefferies C, Flanagan SE, Hattersley A, Ellard S, Ashcroft FM.

Hum Mol Genet. 2010 Mar 15;19(6):963-72. doi: 10.1093/hmg/ddp554. Epub 2009 Dec 18.

34.

Increasing selectivity of CC chemokine receptor 8 antagonists by engineering nondesolvation related interactions with the intended and off-target binding sites.

Shamovsky I, de Graaf C, Alderin L, Bengtsson M, Bladh H, Börjesson L, Connolly S, Dyke HJ, van den Heuvel M, Johansson H, Josefsson BG, Kristoffersson A, Linnanen T, Lisius A, Männikkö R, Nordén B, Price S, Ripa L, Rognan D, Rosendahl A, Skrinjar M, Urbahns K.

J Med Chem. 2009 Dec 10;52(23):7706-23. doi: 10.1021/jm900713y.

PMID:
19954248
35.

Pharmacological and electrophysiological characterization of nine, single nucleotide polymorphisms of the hERG-encoded potassium channel.

Männikkö R, Overend G, Perrey C, Gavaghan CL, Valentin JP, Morten J, Armstrong M, Pollard CE.

Br J Pharmacol. 2010 Jan;159(1):102-14. doi: 10.1111/j.1476-5381.2009.00334.x. Epub 2009 Aug 10.

36.

Mode shifts in the voltage gating of the mouse and human HCN2 and HCN4 channels.

Elinder F, Männikkö R, Pandey S, Larsson HP.

J Physiol. 2006 Sep 1;575(Pt 2):417-31. Epub 2006 Jun 15.

37.

Hysteresis in the voltage dependence of HCN channels: conversion between two modes affects pacemaker properties.

Männikkö R, Pandey S, Larsson HP, Elinder F.

J Gen Physiol. 2005 Mar;125(3):305-26. Epub 2005 Feb 14.

38.

Molecular movement of the voltage sensor in a K channel.

Broomand A, Männikkö R, Larsson HP, Elinder F.

J Gen Physiol. 2003 Dec;122(6):741-8. Epub 2003 Nov 10.

39.

Voltage-sensing mechanism is conserved among ion channels gated by opposite voltages.

Männikkö R, Elinder F, Larsson HP.

Nature. 2002 Oct 24;419(6909):837-41.

PMID:
12397358
40.

S4 charges move close to residues in the pore domain during activation in a K channel.

Elinder F, Männikkö R, Larsson HP.

J Gen Physiol. 2001 Jul;118(1):1-10.

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