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Cited In for PMID: 35026854

13 results

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Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.
Stellingwerff MD, Nulton C, Helman G, Roosendaal SD, Benko WS, Pizzino A, Bugiani M, Vanderver A, Simons C, van der Knaap MS. Stellingwerff MD, et al. Neuropediatrics. 2022 Apr;53(2):115-121. doi: 10.1055/a-1739-2722. Epub 2022 Feb 23. Neuropediatrics. 2022. PMID: 35026854 Free PMC article.
Rigorous genetic diagnosis review in natural history studies.
Pizzino A, Arnold K, Wiener E, Muirhead K, Schmidt J, Dominguez-Gonzalez CA, Banglorewala P, Fraser JL, Ruzhnikov M, Cohen JS, Sherbini O, Logan R, Gavazzi F, Sevagamoorthy A, Vincent A, D'Aiello R, Vanderver A. Pizzino A, et al. Orphanet J Rare Dis. 2026 Apr 28;21(1):182. doi: 10.1186/s13023-026-04317-2. Orphanet J Rare Dis. 2026. PMID: 42050713 Free PMC article.
Small Vessel Disease Phenotype Associated With Monoallelic NOTCH3 Loss-of-Function Variants.
van Asbeck JS, Gravesteijn G, Cerfontaine MN, Vreijling JP, Mulder AA, Koning RI, Kruit MC, Bersano A, Muir KW, Neilson SJ, Meschia JF, Shourav MMI, Koupparis A, Lee YC, Rifino N, Hack RJ, Nibbeling EAR, Lesnik Oberstein SAJ, Rutten JW. van Asbeck JS, et al. Neurology. 2025 Sep 23;105(6):e214021. doi: 10.1212/WNL.0000000000214021. Epub 2025 Aug 29. Neurology. 2025. PMID: 40882175 Free PMC article.
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Iruzubieta P, Alves CAPF, Al Shamsi AM, ElGhazali G, Zaki MS, Pinelli L, Lopergolo D, Cho BPH, Jolly AA, Al Futaisi A, Al-Amrani F, Galli J, Fazzi E, Vulin K, Barajas-Olmos F, Hengel H, Aljamal BM, Nasr V, Assarzadegan F, Ragno M, Trojano L, Ojeda NM, Çakar A, Bianchi S, Pescini F, Poggesi A, Al Tenalji A, Aziz M, Mohammad R, Chedrawi A, De Stefano N, Zifarelli G, Schöls L, Haack TB, Rebelo A, Zuchner S, Koc F, Griffiths LR, Orozco L, Helmes KG, Babaei M, Bauer P, Chan Jeong W, Karimiani EG, Schmidts M, Gleeson JG, Chung WK, Alkuraya FS, Shalbafan B, Markus HS, Houlden H, Maroofian R. Iruzubieta P, et al. EBioMedicine. 2024 Sep;107:105297. doi: 10.1016/j.ebiom.2024.105297. Epub 2024 Aug 26. EBioMedicine. 2024. PMID: 39191170 Free PMC article.
13 results