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Page 1
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: lobel u. Brain. 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. Brain. 2024. PMID: 38456468 Free PMC article.
Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1.
Oliver TRW, Lawson ARJ, Lee-Six H, Tollit A, Jung H, Hooks Y, Sanghvi R, Young MD, Butler TM, Nicola PA, Treger TD, Lensing SV, Burke GAA, Aquilina K, Löbel U, Cortes-Ciriano I, Hargrave D, Jorgensen M, Jessop FA, Coorens THH, Flanagan AM, Allinson K, Martincorena I, Jacques TS, Behjati S. Oliver TRW, et al. Among authors: lobel u. Nat Genet. 2025 Mar;57(3):515-521. doi: 10.1038/s41588-025-02097-2. Epub 2025 Feb 25. Nat Genet. 2025. PMID: 40000831 Free PMC article.
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies.
Benjamin P, Sudhakar S, D'Arco F, Löbel U, Carney O, Roux CJ, Boddaert N, Hemingway C, Eleftheriou D, Mankad K. Benjamin P, et al. Among authors: lobel u. AJNR Am J Neuroradiol. 2022 Jan;43(1):2-10. doi: 10.3174/ajnr.A7362. Epub 2021 Dec 23. AJNR Am J Neuroradiol. 2022. PMID: 34949589 Free PMC article. Review.
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Knöpfel N, Zecchin D, Richardson H, Polubothu S, Barberan-Martin S, Cullup T, Gholam K, Heales S, Krywawych S, López-Balboa P, Muwanga-Nanyonjo N, Ogunbiyi O, Puvirajasinghe C, Solman L, Swarbrick K, Syed SB, Tahir Z, Tisdall MM, Allgrove J, Chesover AD, Aylett SE, Jacques TS, Hannan FM, Löbel U, Semple RK, Thakker RV, Kinsler VA. Knöpfel N, et al. Among authors: lobel u. J Invest Dermatol. 2024 Apr;144(4):820-832.e9. doi: 10.1016/j.jid.2023.09.008. Epub 2023 Oct 4. J Invest Dermatol. 2024. PMID: 37802294 Free PMC article.
Tumour mimics in paediatric neuroimaging.
Coppola F, Löbel U, Morana G, Reddy N, Mankad K. Coppola F, et al. Among authors: lobel u. Neuroradiology. 2025 Jan;67(1):7-24. doi: 10.1007/s00234-024-03507-8. Epub 2024 Nov 22. Neuroradiology. 2025. PMID: 39576299 Review.
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.
Neeman B, Sudhakar S, Biswas A, Rosenblum J, Sidpra J, D'Arco F, Löbel U, Gómez-Chiari M, Serrano M, Bolasell M, Reddy K, Ben-Sira L, Zakzouk R, Al-Hashem A, Mirsky DM, Patel R, Radhakrishnan R, Shekdar K, Whitehead MT, Mankad K. Neeman B, et al. Among authors: lobel u. AJNR Am J Neuroradiol. 2024 Oct 3;45(10):1570-1577. doi: 10.3174/ajnr.A8364. AJNR Am J Neuroradiol. 2024. PMID: 39147584 Free PMC article.
Approaches to supratentorial brain tumours in children.
Sepulveda F, Scotto Opipari R, Coppola F, Ramaglia A, Mankad K, Alves CAP, Bison B, Löbel U. Sepulveda F, et al. Among authors: lobel u. Neuroradiology. 2024 Sep;66(9):1495-1512. doi: 10.1007/s00234-024-03398-9. Epub 2024 Jul 2. Neuroradiology. 2024. PMID: 38953989 Review.
59 results