Amsterdam Neuroscience - Cellular and Molecular Mechanisms

Research Output

Automated fiber tract reconstruction for surgery planning: Extensive validation in language-related white matter tracts

Mancini, M., Vos, S. B., Vakharia, V. N., O'Keeffe, A. G., Trimmel, K., Barkhof, F., Dorfer, C., Soman, S., Winston, G. P., Wu, C., Duncan, J. S., Sparks, R. & Ourselin, S., 1 Jan 2019, In : NeuroImage: Clinical. 23, 101883.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Friedman, J., Smith, D. E., Issa, M. Y., Stanley, V., Wang, R., Mendes, M. I., Wright, M. S., Wigby, K., Hildreth, A., Crawford, J. R., Koehler, A. E., Chowdhury, S., Nahas, S., Zhai, L., Xu, Z., Lo, W-S., James, K. N., Musaev, D., Accogli, A., Guerrero, K. & 9 others, Tran, L. T., Omar, T. E. I., Ben-Omran, T., Dimmock, D., Kingsmore, S. F., Salomons, G. S., Zaki, M. S., Bernard, G. & Gleeson, J. G., 1 Dec 2019, In : Nature Communications. 10, 1, 707.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

Theil, A. F., Botta, E., Raams, A., Smith, D. E. C., Mendes, M. I., Caligiuri, G., Giachetti, S., Bione, S., Carriero, R., Liberi, G., Zardoni, L., Swagemakers, S. M. A., Salomons, G. S., Sarasin, A., Lehmann, A., van der Spek, P. J., Ogi, T., Hoeijmakers, J. H. J., Vermeulen, W. & Orioli, D., 1 Aug 2019, In : American journal of human genetics. 105, 2, p. 434-440

Research output: Contribution to journalArticleAcademicpeer-review

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

van der Knaap, M. S., Bugiani, M., Mendes, M. I., Riley, L. G., Smith, D. E. C., Rudinger-Thirion, J., Frugier, M., Breur, M., Crawford, J., van Gaalen, J., Schouten, M., Willems, M., Waisfisz, Q., Mau-Them, F. T., Rodenburg, R. J., Taft, R. J., Keren, B., Christodoulou, J., Depienne, C., Simons, C. & 2 others, Salomons, G. S. & Mochel, F., 12 Mar 2019, In : Neurology. 92, 11, p. E1225-E1237

Research output: Contribution to journalArticleAcademicpeer-review

Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals

Coleman, J. R. I., Bryois, J., Gaspar, H. L. A., Jansen, P. R., Savage, J. E., Skene, N., Plomin, R., Muñoz-Manchado, A. B., Linnarsson, S., Crawford, G., Hjerling-Leffler, J., Sullivan, P. F., Posthuma, D. & Breen, G., 1 Feb 2019, In : Molecular Psychiatry. 24, 2, p. 182-197 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

Biomarker-based prognosis for people with mild cognitive impairment (ABIDE): a modelling study

van Maurik, I. S., Vos, S. J., Bos, I., Bouwman, F. H., Teunissen, C. E., Scheltens, P., Barkhof, F., Frolich, L., Kornhuber, J., Wiltfang, J., Maier, W., Peters, O., Rüther, E., Nobili, F., Frisoni, G. B., Spiru, L., Freund-Levi, Y., Wallin, A. K., Hampel, H., Soininen, H. & 20 others, Tsolaki, M., Verhey, F., Kłoszewska, I., Mecocci, P., Vellas, B., Lovestone, S., Galluzzi, S., Herukka, S-K., Santana, I., Baldeiras, I., de Mendonça, A., Silva, D., Chetelat, G., Egret, S., Palmqvist, S., Hansson, O., Visser, P. J., Berkhof, J., van der Flier, W. M. & Alzheimer's Disease Neuroimaging Initiative, 1 Nov 2019, In : Lancet Neurology. 18, 11, p. 1034-1044

Research output: Contribution to journalArticleAcademicpeer-review

Can hysterosalpingo foam sonography (HyFoSy) replace hysterosalpingography (HSG) as first choice tubal patency test: a randomized comparison (foam study)?

van Welie, N., van Rijswijk, J., Dreyer, K., van Hooff, M. H. A., Verhoeve, H., de Bruin, J. P., Mol, F., van Baal, M., van de Laar, B., Lambalk, N. B., van Wely, M., Stoker, J., Mol, B. W. & Mijatovic, V., Sep 2019, In : Fertility and Sterility. 112, 3, p. e2-e3

Research output: Contribution to journalArticleAcademic

CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D12 mantle cell lymphoma

Martín-Garcia, D., Navarro, A., Valdés-Mas, R., Clot, G., Gutiérrez-Abril, J., Prieto, M., Ribera-Cortada, I., Woroniecka, R., Rymkiewicz, G., Bens, S., de Leval, L., Rosenwald, A., Ferry, J. A., Hsi, E. D., Fu, K., Delabie, J., Weisenburger, D., de Jong, D., Climent, F., O'Connor, S. J. & 17 others, Swerdlow, S. H., Torrents, D., Beltran, S., Espinet, B., González-Farré, B., Veloza, L., Costa, D., Matutes, E., Siebert, R., Ott, G., Quintanilla-Martinez, L., Jaffe, E. S., López-Otín, C., Salaverria, I., Puente, X. S., Campo, E. & Beà, S., 1 Jan 2019, In : Blood. 133, 9, p. 940-951 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cell Replacement Therapy Improves Pathological Hallmarks in a Mouse Model of Leukodystrophy Vanishing White Matter

Dooves, S., Leferink, P. S., Krabbenborg, S., Breeuwsma, N., Bots, S., Hillen, A. E. J., Jacobs, G., van der Knaap, M. S. & Heine, V. M., 5 Mar 2019, In : Stem Cell Reports. 12, 3, p. 441-450

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cerebral amyloid burden is associated with white matter hyperintensity location in specific posterior white matter regions

Weaver, N. A., Doeven, T., Barkhof, F., Biesbroek, J. M., Groeneveld, O. N., Kuijf, H. J., Prins, N. D., Scheltens, P., Teunissen, C. E., van der Flier, W. M., Biessels, G. J. & TRACE-VCI study group, 1 Dec 2019, In : Neurobiology of Aging. 84, p. 225-234 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cerebrospinal fluid biomarkers of neurodegeneration, synaptic integrity, and astroglial activation across the clinical Alzheimer's disease spectrum

Bos, I., Vos, S., Verhey, F., Scheltens, P., Teunissen, C., Engelborghs, S., Sleegers, K., Frisoni, G., Blin, O., Richardson, J. C., Bordet, R. G., Tsolaki, M., Popp, J., Peyratout, G., Martinez-Lage, P., Tainta, M., Lleó, A., Johannsen, P., Freund-Levi, Y., Frölich, L. & 12 others, Vandenberghe, R., Westwood, S., Dobricic, V., Barkhof, F., Legido-Quigley, C., Bertram, L., Lovestone, S., Streffer, J., Andreasson, U., Blennow, K., Zetterberg, H. & Visser, P. J., 1 May 2019, In : Alzheimer's and Dementia. 15, 5, p. 644-654 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cervical cancer detection by DNA methylation analysis in urine

Snoek, B. C., Splunter, A. P. V., Bleeker, M. C. G., Ruiten, M. C. V., Heideman, D. A. M., Rurup, W. F., Verlaat, W., Schotman, H., Gent, M. V., Trommel, N. E. V. & Steenbergen, R. D. M., 28 Feb 2019, In : Scientific Reports. 9, 1, p. 3088

Research output: Contribution to journalArticleAcademicpeer-review

Changes in intracellular folate metabolism during high-dose methotrexate and Leucovorin rescue therapy in children with acute lymphoblastic leukemia

Oosterom, N., de Jonge, R., Smith, D. E. C., Pieters, R., Tissing, W. J. E., Fiocco, M., van Zelst, B. D., van den Heuvel-Eibrink, M. M. & Heil, S. G., 2019, In : PLoS ONE. 14, 9, e0221591.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Characterization of brainstem TDP-43 distribution in FTD cases with ALS features

Scarioni, M., Gami-Patel, P., Timar, Y. S., Rozemuller, A. J., Hoozemans, J. J., Aronica, E., Raaphorst, J., Pijnenburg, Y. A. & Dijkstra, A. A., Jul 2019, In : European Journal of Neurology. 26, p. 436-436

Research output: Contribution to journalMeeting AbstractAcademic

Chronic white matter lesion activity predicts clinical progression in primary progressive multiple sclerosis

Elliott, C., Belachew, S., Wolinsky, J. S., Hauser, S. L., Kappos, L., Barkhof, F., Bernasconi, C., Fecker, J., Model, F., Wei, W. & Arnold, D. L., 1 Sep 2019, In : Brain. 142, 9, p. 2787-2799 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Circulating tumor DNA analysis: clinical implications for colorectal cancer patients. A systematic review

Bach, S., Sluiter, N. R., Beagan, J., Mekke, J. M., Ket, J. C. F., van Grieken, N. C. T., Steenbergen, R. D. M., Ylstra, B., Kazemier, G. & Tuynman, J. B., 19 Jun 2019, In : JNCI Cancer Spectrum. 3, 3, pkz042.

Research output: Contribution to journalArticleAcademicpeer-review

Classical Human Leukocyte Antigen Alleles and C4 Haplotypes Are Not Significantly Associated With Depression

Glanville, K. P., Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Coleman, J. R. I., Hanscombe, K. B., Euesden, J., Choi, S. W., Purves, K. L., Breen, G., Air, T. M., Andlauer, T. F. M., Baune, B. T., Binder, E. B., Blackwood, D. H. R., Boomsma, D. I., Buttenschøn, H. N., Colodro-Conde, L., Dannlowski, U., Direk, N., Dunn, E. C., Forstner, A. J. & 33 others, de Geus, E. J. C., Grabe, H. J., Hamilton, S. P., Jones, I., Jones, L. A., Knowles, J. A., Kutalik, Z., Levinson, D. F., Lewis, G., Lind, P. A., Lucae, S., Magnusson, P. K., McGuffin, P., McIntosh, A. M., Milaneschi, Y., Mors, O., Mostafavi, S., Müller-Myhsok, B., Pedersen, N. L., Penninx, B. W. J. H., Potash, J. B., Preisig, M., Ripke, S., Beekman, A. T. F., Jansen, R., Middeldorp, C. M., Peyrot, W. J., Posthuma, D., Schoevers, R., Smit, J. H., de Geus, E. J. C., Weissman, M. M. & O'Reilly, P. F., 5 Aug 2019, In : Biological Psychiatry.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients

Williams, M., Valayannopoulos, V., Altassan, R., Chung, W. K., Heijboer, A. C., Keng, W. T., Lapatto, R., McClean, P., Mulder, M. F., Tylki-Szymańska, A., Walenkamp, M-J. E., Alfadhel, M., Alakeel, H., Salomons, G. S., Eyaid, W. & Wamelink, M. M. C., 1 Jan 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 147-158 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients

Vals, M-A., Ashikov, A., Ilves, P., Loorits, D., Zeng, Q., Barone, R., Huijben, K., Sykut-Cegielska, J., Diogo, L., Elias, A. F., Greenwood, R. S., Grunewald, S., van Hasselt, P. M., van de Kamp, J. M., Mancini, G., Okninska, A., Pajusalu, S., Rudd, P. M., Rustad, C. F., Salvarinova, R. & 5 others, de Vries, B. B. A., Wolf, N. I., Lefeber, D. J., Õunap, K. & EPGEN Study, 1 May 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 553-564 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Clinically relevant cranio-caudal patterns of cervical cord atrophy evolution in MS

Rocca, M. A., Valsasina, P., Meani, A., Gobbi, C., Zecca, C., Rovira, À., Montalban, X., Kearney, H., Ciccarelli, O., Matthews, L., Palace, J., Gallo, A., Bisecco, A., Gass, A., Eisele, P., Lukas, C., Bellenberg, B., Barkhof, F., Vrenken, H., Preziosa, P. & 3 others, Comi, G., Filippi, M. & MAGNIMS Study Group, 12 Nov 2019, In : Neurology. 93, 20, p. e1852-e1866

Research output: Contribution to journalArticleAcademicpeer-review

Clinical relevance of acute cerebral microinfarcts in vascular cognitive impairment

Ferro, D. A., van den Brink, H., Exalto, L. G., Boomsma, J. M. F., Barkhof, F., Prins, N. D., van der Flier, W. M., Biessels, G. J. & TRACE-VCI study group, 2 Apr 2019, In : Neurology. 92, 14, p. e1558-e1566

Research output: Contribution to journalArticleAcademicpeer-review

Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia

Meeter, L. H. H., Steketee, R. M. E., Salkovic, D., Vos, M. E., Grossman, M., McMillan, C. T., Irwin, D. J., Boxer, A. L., Rojas, J. C., Olney, N. T., Karydas, A., Miller, B. L., Pijnenburg, Y. A. L., Barkhof, F., Sánchez-Valle, R., Lladó, A., Borrego-Ecija, S., Diehl-Schmid, J., Grimmer, T., Goldhardt, O. & 27 others, Santillo, A. F., Hansson, O., Vestberg, S., Borroni, B., Padovani, A., Galimberti, D., Scarpini, E., Rohrer, J. D., Woollacott, I. O. C., Synofzik, M., Wilke, C., de Mendonca, A., Vandenberghe, R., Benussi, L., Ghidoni, R., Binetti, G., Niessen, W. J., Papma, J. M., Seelaar, H., Jiskoot, L. C., de Jong, F. J., Donker Kaat, L., del Campo, M., Teunissen, C. E., Bron, E. E., van den Berg, E. & van Swieten, J. C., 1 Sep 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, 9, p. 997-1004 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

COGNITIVE FUNCTIONING IN PATIENTS WITH DISORDERS ALONG THE HEART-BRAIN AXIS: THE ROLE OF CEREBRAL BLOOD FLOW

Leeuwis, A. E., Hooghiemstra, A. M., Bron, E. E., Kuipers, S., Oudeman, E. A., Kalay, T., Brunner-La Rocca, H-P. H. P., Kappelle, J., van Oostenbrugge, R. J., Greving, J. P., Niessen, W. J., van Buchem, M. A., van Osch, M. J. P., van Rossum, A., Prins, N. D., Biessels, G. J., Barkhof, F. & van der Flier, W. M., Jul 2019, In : Alzheimers & Dementia. 15, 7, p. P755-P756

Research output: Contribution to journalMeeting AbstractAcademic

Cognitive reserve and clinical progression in Alzheimer disease: A paradoxical relationship

van Loenhoud, A. C., van der Flier, W. M., Wink, A. M., Dicks, E., Groot, C., Twisk, J., Barkhof, F., Scheltens, P., Ossenkoppele, R. & Alzheimer's Disease Neuroimaging Initiative, 23 Jul 2019, In : Neurology. 93, 4, p. e334-e346

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Common Polygenic Variations for Psychiatric Disorders and Cognition in Relation to Brain Morphology in the General Pediatric Population

Alemany, S., Jansen, P. R., Muetzel, R. L., Marques, N., el Marroun, H., Jaddoe, V. W. V., Polderman, T. J. C., Tiemeier, H., Posthuma, D. & White, T., 1 Jun 2019, In : Journal of the American Academy of Child and Adolescent Psychiatry. 58, 6, p. 600-607 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

COMORBID AMYLOID-β PATHOLOGY AFFECTS NEUROPSYCHIATRIC, NEUROPSYCHOLOGICAL, AND IMAGING FEATURES IN VASCULAR COGNITIVE DISORDERS

Leijenaar, J. F., Groot, C., Sudre, C. H., Bergeron, D., Leeuwis, A. E., Cardoso, J., Carrasco, F. P., Laforce, R., Barkhof, F., van der Flier, W. M., Scheltens, P., Prins, N. D. & Ossenkoppele, R., Jul 2019, In : Alzheimers & Dementia. 15, 7, p. P888-P889

Research output: Contribution to journalMeeting AbstractAcademic

Open Access

Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA

Kaur, P., Wamelink, M. M. C., van der Knaap, M. S., Girisha, K. M. & Shukla, A., 1 Aug 2019, In : European Journal of Medical Genetics. 62, 8, 103708.

Research output: Contribution to journalArticleAcademicpeer-review

Connecting heart and brain: vascular determinants of cognitive impairment and depressive symptoms

Leeuwis, AE., 2019, 240 p.

Research output: ThesisResearch VU University Amsterdam, graduation VU University Amsterdam

Open Access

Coronary artery calcification in middle-aged women with premature ovarian insufficiency

Gunning, M. N., Meun, C., van Rijn, B. B., Maas, A. H. E. M., Benschop, L., Franx, A., Boersma, E., Budde, R. P. J., Appelman, Y., Lambalk, C. B., Eijkemans, M. J. C., Velthuis, B. K., Laven, J. S. E., Fauser, B. C. J. M. & On behalf of the CREW-consortium, 1 Aug 2019, In : Clinical Endocrinology. 91, 2, p. 314-322

Research output: Contribution to journalArticleAcademicpeer-review

Correction: Genome-wide analysis reveals extensive genetic overlap between schizophrenia, bipolar disorder, and intelligence (Molecular Psychiatry, (2019), 10.1038/s41380-018-0332-x)

Smeland, O. B., Bahrami, S., Frei, O., Shadrin, A., O’Connell, K., Savage, J., Watanabe, K., Krull, F., Bettella, F., Steen, N. E., Ueland, T., Posthuma, D., Djurovic, S., Dale, A. M. & Andreassen, O. A., 1 Jan 2019, In : Molecular Psychiatry.

Research output: Contribution to journalErratumAcademicpeer-review

Open Access

Corrigendum: The vaginal microbiome as a predictor for outcome of in vitro fertilization with or without intracytoplasmic sperm injection: A prospective study (Human Reproduction (2018) 33 (2002-2009) DOI: 10.1093/humrep/dez065)

Koedooder, R., Singer, M., Schoenmakers, S., Savelkoul, P. H. M., Morré, S. A., de Jonge, J. D., Poort, L., Cuypers, W. J. S. S., Beckers, N. G. M., Broekmans, F. J. M., Cohlen, B. J., den Hartog, J. E., Fleischer, K., Lambalk, C. B., Smeenk, J. M. J. S., Budding, A. E. & Laven, J. S. E., 2 Oct 2019, In : Human Reproduction. 34, 10, p. 2091-2092 2 p.

Research output: Contribution to journalErratumAcademicpeer-review

Open Access

Cortical atrophy accelerates as cognitive decline worsens in multiple sclerosis

Eijlers, A. J. C., Dekker, I., Steenwijk, M. D., Meijer, K. A., Hulst, H. E., Pouwels, P. J. W., Uitdehaag, B. M. J., Barkhof, F., Vrenken, H., Schoonheim, M. M. & Geurts, J. J. G., 1 Oct 2019, In : Neurology. 93, 14, p. e1348-e1359

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cortical cerebral blood flow in ageing: effects of haematocrit, sex, ethnicity and diabetes

Smith, L. A., Melbourne, A., Owen, D., Cardoso, M. J., Sudre, C. H., Tillin, T., Sokolska, M., Atkinson, D., Chaturvedi, N., Ourselin, S., Hughes, A. D., Barkhof, F. & Jäger, H. R., 1 Oct 2019, In : European Radiology. 29, 10, p. 5549-5558

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cumulative live birth rates in low-prognosis women

Leijdekkers, J. A., Eijkemans, M. J. C., van Tilborg, T. C., Oudshoorn, S. C., van Golde, R. J. T., Hoek, A., Lambalk, C. B., de Bruin, J. P., Fleischer, K., Mochtar, M. H., Kuchenbecker, W. K. H., Laven, J. S. E., Mol, B. W. J., Torrance, H. L., Broekmans, F. J. M., Koks, C. A. M., Verhoeve, H. R., Nap, A. W., Scheffer, G. J., Manger, A. P. & 13 others, Schoot, B. C., Oosterhuis, G. J. E., Sluijmer, A. V., Friederich, J., Verhoeff, A., van Hooff, M. H. A., van Santbrink, E. J. P., Brinkhuis, E. A., Smeenk, J. M. J., Kwee, J., Dekoning, C. H., Groen, H. & van Wely, M., 1 Jan 2019, In : Human Reproduction. 34, 6, p. 1030-1041

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

Kuo, M. E., Theil, A. F., Kievit, A., Malicdan, M. C., Introne, W. J., Christian, T., Verheijen, F. W., Smith, D. E. C., Mendes, M. I., Hussaarts-Odijk, L., van der Meijden, E., van Slegtenhorst, M., Wilke, M., Vermeulen, W., Raams, A., Groden, C., Shimada, S., Meyer-Schuman, R., Hou, Y. M., Gahl, W. A. & 3 others, Antonellis, A., Salomons, G. S. & Mancini, G. M. S., 7 Mar 2019, In : American journal of human genetics. 104, 3, p. 520-529

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants

Pop, A., Struys, E. A., Jansen, E. E. W., Fernandez, M. R., Kanhai, W. A., van Dooren, S. J. M., Ozturk, S., van Oostendorp, J., Lennertz, P., Kranendijk, M., van der Knaap, M. S., Gibson, K. M., van Schaftingen, E. & Salomons, G. S., 1 Jul 2019, In : Human Mutation. 40, 7, p. 975-982 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Dementia imaging in clinical practice: a European-wide survey of 193 centres and conclusions by the ESNR working group

Vernooij, M. W., Pizzini, F. B., Schmidt, R., Smits, M., Yousry, T. A., Bargallo, N., Frisoni, G. B., Haller, S. & Barkhof, F., 1 Jun 2019, In : Neuroradiology. 61, 6, p. 633-642

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Dementia with Lewy Bodies: A Clinicopathologic Series of False-positive Cases

Vergouw, L. J. M., Marler, L. P., Van De Berg, W. D. J., Rozemuller, A. J. M., De Jong, F. J. & Netherlands Brain Bank, 24 Apr 2019, In : Alzheimer Disease and Associated Disorders.

Research output: Contribution to journalArticleAcademicpeer-review

De novo SPAST mutations may cause a complex SPG4 phenotype

Schieving, J. H., de Bot, S. T., van de Pol, L. A., Wolf, N. I., Brilstra, E. H., Frints, S. G., van Gaalen, J., Misra-Isrie, M., Pennings, M., Verschuuren-Bemelmans, C. C., Kamsteeg, E-J., van de Warrenburg, B. P. & Willemsen, M. A., 1 Jul 2019, In : Brain. 142, 7, p. e31

Research output: Contribution to journalArticleAcademicpeer-review

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures (Brain (2019))

Horn, S., Au, M., Basel-Salmon, L., Bayrak-Toydemir, P., Chapin, A., Cohen, L., Elting, M. W., Graham, J. M., Gonzaga-Jauregui, C., Konen, O., Holzer, M., Lemke, J., Miller, C. E., Rey, L. K., Wolf, N. I., Weiss, M. M., Waisfisz, Q., Mirzaa, G. M., Wieczorek, D., Sticht, H. & 1 others, Jamra, R. A., 1 Nov 2019, In : Brain. 142, 11, p. 3351-3359 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Detecting frontotemporal dementia syndromes using MRI biomarkers

Bruun, M., Koikkalainen, J., Rhodius-Meester, H. F. M., Baroni, M., Gjerum, L., van Gils, M., Soininen, H., Remes, A. M., Hartikainen, P. I., Waldemar, G., Mecocci, P., Barkhof, F., Pijnenburg, Y., van der Flier, W. M., Hasselbalch, S. G., Lötjönen, J. & Frederiksen, K. S., 1 Jan 2019, In : NeuroImage: Clinical. 22, 101711.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Diagnosis, prognosis, and treatment of leukodystrophies

van der Knaap, M. S., Schiffmann, R., Mochel, F. & Wolf, N. I., 1 Oct 2019, In : The Lancet Neurology. 18, 10, p. 962-972

Research output: Contribution to journalReview articleAcademicpeer-review

Diagnostic Value of Cerebrospinal Fluid Neurofilament Light Protein in Neurology: A Systematic Review and Meta-analysis

Bridel, C., van Wieringen, W. N., Zetterberg, H., Tijms, B. M., Teunissen, C. E., Alvarez-Cermeño, J. C., Andreasson, U., Axelsson, M., Bäckström, D. C., Bartos, A., Bjerke, M., Blennow, K., Boxer, A., Brundin, L., Burman, J., Christensen, T., Fialová, L., Forsgren, L., Frederiksen, J. L., Gisslén, M. & 57 others, Gray, E., Gunnarsson, M., Hall, S., Hansson, O., Herbert, M. K., Jakobsson, J., Jessen-Krut, J., Janelidze, S., Johannsson, G., Jonsson, M., Kappos, L., Khademi, M., Khalil, M., Kuhle, J., Landén, M., Leinonen, V., Logroscino, G., Lu, C-H., Lycke, J., Magdalinou, N. K., Malaspina, A., Mattsson, N., Meeter, L. H., Mehta, S. R., Modvig, S., Olsson, T., Paterson, R. W., Pérez-Santiago, J., Piehl, F., Pijnenburg, Y. A. L., Pyykkö, O. T., Ragnarsson, O., Rojas, J. C., Romme Christensen, J., Sandberg, L., Scherling, C. S., Schott, J. M., Sellebjerg, F. T., Simone, I. L., Skillbäck, T., Stilund, M., Sundström, P., Svenningsson, A., Tortelli, R., Tortorella, C., Trentini, A., Troiano, M., Turner, M. R., van Swieten, J. C., Vågberg, M., Verbeek, M. M., Villar, L. M., Visser, P. J., Wallin, A., Weiss, A., Wikkelsø, C. & Wild, E. J., 1 Sep 2019, In : JAMA Neurology. 76, 9, p. 1035-1048 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

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Differences in topological progression profile among neurodegenerative diseases from imaging data

Garbarino, S., Lorenzi, M., Oxtoby, N. P., Vinke, E. J., Marinescu, R. V., Eshaghi, A., Ikram, M. A., Niessen, W. J., Ciccarelli, O., Barkhof, F., Schott, J. M., Vernooij, M. W., Alexander, D. C. & Alzheimer’s Disease Neuroimaging Initiative, 13 Dec 2019, In : eLife. 8

Research output: Contribution to journalArticleAcademicpeer-review

Open Access