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Page 1
Treatment of Nocturnal Enuresis Using Miniaturised Smart Mechatronics With Artificial Intelligence.
Kuru K, Ansell D, Hughes D, Watkinson BJ, Gaudenzi F, Jones M, Lunardi D, Caswell N, Montiel AR, Leather P, Irving D, Bennett K, McKenzie C, Sugden P, Davies C, Degoede C. Kuru K, et al. IEEE J Transl Eng Health Med. 2023 Nov 27;12:204-214. doi: 10.1109/JTEHM.2023.3336889. eCollection 2024. IEEE J Transl Eng Health Med. 2023. PMID: 38088989 Free PMC article.
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Accogli A, Zaki MS, Al-Owain M, Otaif MY, Jackson A, Argilli E, Chandler KE, De Goede CGEL, Cora T, Alvi JR, Eslahi A, Asl Mohajeri MS, Ashtiani S, Au PYB, Scocchia A, Alakurtti K, Pagnamenta AT, Toosi MB, Karimiani EG, Mojarrad M, Arab F, Duymuş F, Scantlebury MH, Yeşil G, Rosenfeld JA, Türkyılmaz A, Sağer SG, Sultan T, Ashrafzadeh F, Zahra T, Rahman F, Maqbool S, Abdel-Hamid MS, Issa MY, Efthymiou S, Bauer P, Zifarelli G, Salpietro V, Al-Hassnan Z, Banka S, Sherr EH, Gleeson JG, Striano P, Houlden H, Severino M, Maroofian R. Accogli A, et al. Among authors: de goede cgel. Brain Commun. 2023 Aug 17;5(5):fcad222. doi: 10.1093/braincomms/fcad222. eCollection 2023. Brain Commun. 2023. PMID: 37794925 Free PMC article.
Long term outcome in non-multiple sclerosis paediatric acquired demyelinating syndromes.
Wassmer E, Billaud C, Absoud M, Abdel-Mannan O, Benetou C, Cummins C, Forrest K, De Goede C, Eltantawi N, Hickson H, Hussain N, Jardine P, Livingston JH, Mordekar S, Ramdas S, Taylor M, Vijayakumar K, West S, Whitehouse WP, Kneen R, Hemingway C, Lim M, Hacohen Y, Wright S; PUDDLS STUDY GROUP. Wassmer E, et al. Among authors: de goede c. Eur J Paediatr Neurol. 2024 Sep;52:52-58. doi: 10.1016/j.ejpn.2024.07.002. Epub 2024 Jul 6. Eur J Paediatr Neurol. 2024. PMID: 39025036 Free article.
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. Martin-Geary AC, et al. medRxiv [Preprint]. 2023 Sep 12:2023.09.12.23295416. doi: 10.1101/2023.09.12.23295416. medRxiv. 2023. PMID: 37745552 Free PMC article. Preprint.
Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial.
Mah JK, Clemens PR, Guglieri M, Smith EC, Finkel RS, Tulinius M, Nevo Y, Ryan MM, Webster R, Castro D, Kuntz NL, McDonald CM, Damsker JM, Schwartz BD, Mengle-Gaw LJ, Jackowski S, Stimpson G, Ridout DA, Ayyar-Gupta V, Baranello G, Manzur AY, Muntoni F, Gordish-Dressman H, Leinonen M, Ward LM, Hoffman EP, Dang UJ; NorthStar UK Network and CINRG DNHS Investigators. Mah JK, et al. JAMA Netw Open. 2022 Jan 4;5(1):e2144178. doi: 10.1001/jamanetworkopen.2021.44178. JAMA Netw Open. 2022. PMID: 35076703 Free PMC article. Clinical Trial.
Growth pattern trajectories in boys with Duchenne muscular dystrophy.
Stimpson G, Raquq S, Chesshyre M, Fewtrell M, Ridout D, Sarkozy A, Manzur A, Ayyar Gupta V, De Amicis R, Muntoni F, Baranello G; NorthStar Network. Stimpson G, et al. Orphanet J Rare Dis. 2022 Jan 24;17(1):20. doi: 10.1186/s13023-021-02158-9. Orphanet J Rare Dis. 2022. PMID: 35073949 Free PMC article.
80 results