Clinical spectrum of ataxia-telangiectasia in adulthood von VERHAGEN, M. M. M, ABDO, W. F, BROEKS, A, LAST, J. I, VAN'T VEER, L. J, TIJSSEN, M. A. J, DUBOIS, A. M. I, KREMER, H. P. H, WEEMAES, C. M. R, TAYLOR, A. M. R, VAN DEUREN, M, WILLEMSEN, M. A. A. P, HOGERVORST, F. B. L, SMEETS, D. F. C. M, HIEL, J. A. P, BRUNT, E. R, VAN RIJN, M. A, KRAKAUER, D. Majoor, OLDENBURG, R. A

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Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline von van Os, N.J.H., Roeleveld, N., Weemaes, C.M.R., Jongmans, M.C.J., Janssens, G.O., Taylor, A.M.R., Hoogerbrugge, N., Willemsen, M.A.A.P.

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Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT von Weitering, T. J., Willemsen, M. A. A. P., Taylor, A. M. R., Weemaes, C. M. R., van der Burg, M., Berghuis, Dagmar

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Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study von de Mol, C. L., Wong, Y. Y. M., van Pelt, E. D., Ketelslegers, I. A., Bakker, D. P., Boon, M., Braun, K. P. J., van Dijk, K. G. J., Eikelenboom, M. J., Engelen, M., Geleijns, K., Haaxma, C. A., Niermeijer, J. M. F., Niks, E. H., Peeters, E. A. J., Peeters-Scholte, C. M. P. C. D., Poll-The, B. T., Portier, R. P., de Rijk-van Andel, J. F., Samijn, J. P. A., Schippers, H. M., Snoeck, I. N., Stroink, H., Vermeulen, R. J., Verrips, A., Visscher, F., Vles, J. S. H., Willemsen, M. A. A. P., Catsman-Berrevoets, C. E., Hintzen, R. Q., Neuteboom, R. F.

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Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency von Brun, L, Ngu, L H, Keng, W T, Ch'ng, G S, Choy, Y S, Hwu, W L, Lee, W T, Willemsen, M A A P, Verbeek, M M, Wassenberg, T, Régal, L, Orcesi, S, Tonduti, D, Accorsi, P, Testard, H, Abdenur, J E, Tay, S, Allen, G F, Heales, S, Kern, I, Kato, M, Burlina, A, Manegold, C, Hoffmann, G F, Blau, N

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Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents’ perspective von Schoenaker, M. H. D., Blom, M., de Vries, M. C., Weemaes, C. M. R., van der Burg, M., Willemsen, M. A. A. P.

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Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases von Koene, S., Rodenburg, R. J., van der Knaap, M. S., Willemsen, M. A. A. P., Sperl, W., Laugel, V., Ostergaard, E., Tarnopolsky, M., Martin, M. A., Nesbitt, V., Fletcher, J., Edvardson, S., Procaccio, V., Slama, A., van den Heuvel, L. P. W. J., Smeitink, J. A. M.

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Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study von Ketelslegers, I. A., Catsman-Berrevoets, C. E., Neuteboom, R. F., Boon, M., van Dijk, K. G. J., Eikelenboom, M. J., Gooskens, R. H. J. M., Niks, E. H., Overweg-Plandsoen, W. C. G., Peeters, E. A. J., Peeters-Scholte, C. M. P. C. D., Poll-The, B. T., de Rijk-van Andel, J. F., Samijn, J. P. A., Snoeck, I. N., Stroink, H., Vermeulen, R. J., Verrips, A., Vles, J. S. H., Willemsen, M. A. A. P., Rodrigues Pereira, R., Hintzen, R. Q.

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A clinical diagnostic algorithm for early onset cerebellar ataxia von Brandsma, R., Verschuuren-Bemelmans, C.C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, V., Brouwer, O.F., Bürk, K., Catsman-Berrevoets, C.E., Craiu, D., de Coo, I.F.M., Gburek, J., Kennedy, C., de Koning, T.J., Kremer, H.P.H., Kumar, R., Macaya, A., Micalizzi, A., Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M.A.J., Vasco, G., Willemsen, M.A.A.P., Zanni, G., Valente, E.M., Boltshauser, E., Sival, D.A.

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Neurofilament light chain: A novel blood biomarker in patients with ataxia telangiectasia von Veenhuis, S.J.G., Gupta, A.S., de Gusmão, C.M., Thornton, J., Margus, B., Rothblum-Oviatt, C., Otto, M., Halbgebauer, S., van Os, N.J.H., van de Warrenburg, B.P.C., Verbeek, M.M., Willemsen, M.A.A.P.

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Considerations for radiotherapy in Bloom Syndrome: A case series von Schoenaker, M.H.D., Takada, S., van Deuren, M., Dommering, C.J., Henriët, S.S.V., Pico, I., Vogel, W.V., Weemaes, C.M.R., Willemsen, M.A.A.P., van der Burg, M., Kaanders, J.H.A.M.

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Prognostic factors for relapse and outcome in pediatric acute transverse myelitis von Helfferich, Jelte, Bruijstens, Arlette L., Wong, Yu Yi M., Danielle van Pelt, E., Boon, Maartje, Neuteboom, Rinze F., Bakker, D.P., Braun, K.P.J., van Dijk, K.G.J., Eikelenboom, M.J., Engelen, M., Brandsma, R., Haaxma, C.A., Niermeijer, J.M.F., Niks, E.H., Peeters, E.A.J., Peeters-Scholte, C.M.P.C.D., Portier, R.P., de Rijk-van Andel, J.F., Samijn, J.P.A., Schippers, H.M., Sie, L.T.L., Snoeck, I.N., Vermeulen, R.J., Verrips, A., Visscher, F., Willemsen, M.A.A.P., Catsman-Berrevoets, C.E.

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The diagnostic pathway in complex paediatric neurology: A cost analysis von van Nimwegen, K.J.M, Schieving, J.H, Willemsen, M.A.A.P, Veltman, J.A, van der Burg, S, van der Wilt, G.J, Grutters, J.P.C

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Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes von Tseng, L.A., Teela, L., Janssen, M.C., Bok, L.A., Willemsen, M.A.A.P., Neuteboom, R.F., Haverman, L., Gospe, S.M., Coughlin, C.R., van Karnebeek, C.D.M.

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Telangiectasias: Small lesions referring to serious disorders von Schieving, J.H., Schoenaker, M.H.D., Weemaes, C.M., van Deuren, M., van der Flier, M., Seyger, M.M., Willemsen, M.A.A.P.

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Prognostic factors for relapse and outcome in pediatric acute transverse myelitis von Helfferich, Jelte, Bruijstens, Arlette L, Wong, Yu Yi M, Danielle van Pelt, E, Boon, Maartje, Neuteboom, Rinze F, Bakker, D. P, Braun, K. P.J, van Dijk, K. G.J, Eikelenboom, M. J, Engelen, M, Brandsma, R, Haaxma, C. A, Niermeijer, J. M.F, Niks, E. H, Peeters, E. A.J, Peeters-Scholte, C. M.P.C.D, Portier, R. P, de Rijk-van Andel, J. F, Samijn, J. P.A, Schippers, H. M, Sie, L. T.L, Snoeck, I. N, Vermeulen, R. J, Verrips, A, Visscher, F, Willemsen, M. A.A.P, Catsman-Berrevoets, C. E

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Child neurology: hereditary spastic paraplegia in children von de Bot, S T, van de Warrenburg, B P C, Kremer, H P H, Willemsen, M A A P

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Autosomal recessive cerebellar ataxias: the current state of affairs von Vermeer, S, van de Warrenburg, B P C, Willemsen, M A A P, Cluitmans, M, Scheffer, H, Kremer, B P, Knoers, N V A M

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Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms von Schoenaker, M.H.D., Van Os, N.J.H., Van der Flier, M., Van Deuren, M., Seyger, M.M., Taylor, A.M.R., Weemaes, C.M.R., Willemsen, M.A.A.P.

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Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations von de Bot, S T, van den Elzen, R T M, Mensenkamp, A R, Schelhaas, H J, Willemsen, M A A P, Knoers, N V A M, Kremer, H P H, van de Warrenburg, B P C, Scheffer, H

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