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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H. Scala M, et al. Among authors: stellingwerff md. Hum Mutat. 2022 Mar;43(3):403-419. doi: 10.1002/humu.24326. Epub 2022 Jan 12. Hum Mutat. 2022. PMID: 34989426 Free PMC article.
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
Stellingwerff MD, Figuccia S, Bellacchio E, Alvarez K, Castiglioni C, Topaloglu P, Stutterd CA, Erasmus CE, Sanchez-Valle A, Lebon S, Hughes S, Schmitt-Mechelke T, Vasco G, Chow G, Rahikkala E, Dallabona C, Okuma C, Aiello C, Goffrini P, Abbink TEM, Bertini ES, Van der Knaap MS. Stellingwerff MD, et al. Neurol Genet. 2021 Feb 2;7(2):e559. doi: 10.1212/NXG.0000000000000559. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33977142 Free PMC article.
MRI Natural History of the Leukodystrophy Vanishing White Matter.
Stellingwerff MD, Al-Saady ML, van de Brug T, Barkhof F, Pouwels PJW, van der Knaap MS. Stellingwerff MD, et al. Radiology. 2021 Sep;300(3):671-680. doi: 10.1148/radiol.2021210110. Epub 2021 Jun 29. Radiology. 2021. PMID: 34184934
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.
Quantitative MRI in leukodystrophies.
Stellingwerff MD, Pouwels PJW, Roosendaal SD, Barkhof F, van der Knaap MS. Stellingwerff MD, et al. Neuroimage Clin. 2023;38:103427. doi: 10.1016/j.nicl.2023.103427. Epub 2023 May 3. Neuroimage Clin. 2023. PMID: 37150021 Free PMC article. Review.
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.
Schoenmakers DH, Leferink PS, Vanderver A, Bonkowsky JL, Krägeloh-Mann I, Bernard G, Bertini E, Fatemi A, Fogel BL, Wolf NI, Skwirut D, Buck A, Holberg B, Saunier-Vivar EF, Rauner R, Dekker H, van Bokhoven P, Stellingwerff MD, Berkhof J, van der Knaap MS. Schoenmakers DH, et al. Among authors: stellingwerff md. BMC Neurol. 2023 Aug 17;23(1):305. doi: 10.1186/s12883-023-03354-9. BMC Neurol. 2023. PMID: 37592248 Free PMC article.
13 results