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Page 1
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD co… See abstract for full author list ➔ Laurie S, et al. Among authors: johansson l. Nat Med. 2025 Jan 17. doi: 10.1038/s41591-024-03420-w. Online ahead of print. Nat Med. 2025. PMID: 39825153
Structural insights into the high basal activity and inverse agonism of the orphan receptor GPR6 implicated in Parkinson's disease.
Barekatain M, Johansson LC, Lam JH, Chang H, Sadybekov AV, Han GW, Russo J, Bliesath J, Brice NL, Carlton MBL, Saikatendu KS, Sun H, Murphy ST, Monenschein H, Schiffer HH, Popov P, Lutomski CA, Robinson CV, Liu ZJ, Hua T, Katritch V, Cherezov V. Barekatain M, et al. Among authors: johansson lc. Sci Signal. 2024 Dec 3;17(865):eado8741. doi: 10.1126/scisignal.ado8741. Epub 2024 Dec 3. Sci Signal. 2024. PMID: 39626010
Microresonator photonic wire bond integration for Kerr-microcomb generation.
Takabayashi AY, Pavlov N, Rosborough V, Hoffman G, Kanger L, Koushyar FM, Huffman T, Nelson M, Turner C, Johansson L, Musolf J, Garrett H, Liu T, Morrison G, Chembo Y, Mattis B, Nguyen TA, Van Camp M, Turner SE, Karpov M, Jost J, Burkley Z. Takabayashi AY, et al. Among authors: johansson l. Sci Rep. 2024 Nov 23;14(1):29054. doi: 10.1038/s41598-024-79945-4. Sci Rep. 2024. PMID: 39580548 Free PMC article.
Randomised controlled trial of the short-term effects of osmotic-release oral system methylphenidate on symptoms and behavioural outcomes in young male prisoners with attention deficit hyperactivity disorder (ADHD): CIAO-II study: commentary, Asherson et al.
Asherson P, Forrester A, Johansson L, Thomson L. Asherson P, et al. Among authors: johansson l. Br J Psychiatry. 2024 Sep;225(3):412-413. doi: 10.1192/bjp.2024.60. Epub 2024 Nov 4. Br J Psychiatry. 2024. PMID: 39495128 No abstract available.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. Among authors: johansson lf. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
1,594 results