Menno Stellingwerff

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, D. H., Leferink, P. S., Vanderver, A., Bonkowsky, J. L., Krägeloh-Mann, I., Bernard, G., Bertini, E., Fatemi, A., Fogel, B. L., Wolf, N. I., Skwirut, D., Buck, A., Holberg, B., Saunier-Vivar, E. F., Rauner, R., Dekker, H., van Bokhoven, P., Stellingwerff, M. D., Berkhof, J. & van der Knaap, M. S., 1 Dec 2023, In: BMC Neurology. 23, 1, 305.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

Quantitative MRI in leukodystrophies

Stellingwerff, M. D., Pouwels, P. J. W., Roosendaal, S. D., Barkhof, F. & van der Knaap, M. S., 1 Jan 2023, In: NeuroImage: Clinical. 38, p. 1-13 13 p., 103427.

Research output: Contribution to journal › Review article › Academic › peer-review

Open Access

Radiological correlates of episodes of acute decline in the leukodystrophy vanishing white matter

Stellingwerff, M. D., van de Wiel, M. A. & van der Knaap, M. S., Apr 2023, In: Neuroradiology. 65, 4, p. 855-863 9 p.

Research output: Contribution to journal › Article › Academic › peer-review

2 Citations (Scopus)

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, S. B., Kaya, N., Stellingwerff, M. D., Pistorio, A., Glamuzina, E., van Karnebeek, C. D., 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, T. B., Prokisch, H., & 55 othersAldhalaan, H., Karimiani, E. G., Yildiz, Y., Ceylan, A. C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M. B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H. S., Maqbool, S., Farid, A., Al-Muhaizea, M. A., Alshwameen, M. O., Aldowsari, L., Alsagob, M., Alyousef, A., AlMass, R., AlHargan, A., Alwadei, A. H., AlRasheed, M. M., Colak, D., Alqudairy, H., Khan, S., Lines, M. A., García Cazorla, M. Á., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M. P., Taylor, J. C., Alsaif, H. S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q. S., Schmitt-Mechelke, T., Ziegler, A., Issa, M. Y., Elbendary, H. M., Striano, P., Alkuraya, F. S., Zaki, M. S., Gleeson, J. G., Barakat, T. S., Bierau, J., van der Knaap, M. S., Maroofian, R. & Houlden, H., 1 Mar 2022, In: Human mutation. 43, 3, p. 403-419 17 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

6 Citations (Scopus)

Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants

Stellingwerff, M. D., Nulton, C., Helman, G., Roosendaal, S. D., Benko, W. S., Pizzino, A., Bugiani, M., Vanderver, A., Simons, C. & Van Der Knaap, M. S., 1 Apr 2022, In: Neuropediatrics. 53, 2, p. 115-121 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

1 Citation (Scopus)

Menno Stellingwerff

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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

Quantitative MRI in leukodystrophies

Radiological correlates of episodes of acute decline in the leukodystrophy vanishing white matter

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants