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Page 1
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. Kour S, et al. Among authors: selmer kk. Nat Commun. 2021 May 7;12(1):2558. doi: 10.1038/s41467-021-22627-w. Nat Commun. 2021. PMID: 33963192 Free PMC article.
Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis.
Stevelink R, Al-Toma D, Jansen FE, Lamberink HJ, Asadi-Pooya AA, Farazdaghi M, Cação G, Jayalakshmi S, Patil A, Özkara Ç, Aydın Ş, Gesche J, Beier CP, Stephen LJ, Brodie MJ, Unnithan G, Radhakrishnan A, Höfler J, Trinka E, Krause R; EpiPGX Consortium; Irelli EC, Di Bonaventura C, Szaflarski JP, Hernández-Vanegas LE, Moya-Alfaro ML, Zhang Y, Zhou D, Pietrafusa N, Specchio N, Japaridze G, Beniczky S, Janmohamed M, Kwan P, Syvertsen M, Selmer KK, Vorderwülbecke BJ, Holtkamp M, Viswanathan LG, Sinha S, Baykan B, Altindag E, von Podewils F, Schulz J, Seneviratne U, Viloria-Alebesque A, Karakis I, D'Souza WJ, Sander JW, Koeleman BPC, Otte WM, Braun KPJ. Stevelink R, et al. Among authors: selmer kk. EClinicalMedicine. 2022 Nov 11;53:101732. doi: 10.1016/j.eclinm.2022.101732. eCollection 2022 Nov. EClinicalMedicine. 2022. PMID: 36467455 Free PMC article.
Cytokine Patterns as Predictors of Antibiotic Treatment Effect in Chronic Low Back Pain with Modic Changes: Subgroup Analyses of a Randomized Trial (AIM Study).
Bråten LCH, Gjefsen E, Gervin K, Pripp AH, Skouen JS, Schistad E, Pedersen LM, Wigemyr M, Selmer KK, Aass HCD, Goll G, Brox JI, Espeland A, Grøvle L, Zwart JA, Storheim K; AIM-study group. Bråten LCH, et al. Among authors: selmer kk. J Pain Res. 2023 May 23;16:1713-1724. doi: 10.2147/JPR.S406079. eCollection 2023. J Pain Res. 2023. PMID: 37252109 Free PMC article. Clinical Trial.
Longitudinal changes of serum cytokines in patients with chronic low back pain and Modic changes.
Gjefsen E, Gervin K, Bråten LCH, Goll GL, Aass HCD, Schistad EI, Wigemyr M, Pedersen LM, Skouen JS, Vigeland MD, Selmer KK, Storheim K, Zwart JA. Gjefsen E, et al. Among authors: selmer kk. Osteoarthritis Cartilage. 2023 Apr;31(4):543-547. doi: 10.1016/j.joca.2023.01.001. Epub 2023 Jan 12. Osteoarthritis Cartilage. 2023. PMID: 36640896 Free article. Clinical Trial.
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS. Ahring PK, et al. Among authors: selmer kk. Brain. 2022 May 24;145(4):1299-1309. doi: 10.1093/brain/awab391. Brain. 2022. PMID: 34633442 Free PMC article.
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.
Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R, Embarc-Buh A, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB. Rajan DS, et al. Among authors: selmer kk. Front Cell Dev Biol. 2022 Feb 28;10:783762. doi: 10.3389/fcell.2022.783762. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35295849 Free PMC article.
De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium; Haaf T, LeGuern E, Depienne C. Nava C, et al. Nat Genet. 2014 Jun;46(6):640-5. doi: 10.1038/ng.2952. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747641
86 results