Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)
Eijk, S., Mous, S. E., Dieleman, G. C., Dierckx, B., Rietman, A. B., de Nijs, P. F. A., ten Hoopen, L. W., van Minkelen, R., Elgersma, Y., Catsman-Berrevoets, C. E., Oostenbrink, R., Legerstee, J. S.
Published in Journal of autism and developmental disorders (01.07.2018)
Published in Journal of autism and developmental disorders (01.07.2018)
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Journal Article
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands
van Minkelen, R., van Bever, Y., Kromosoeto, J.N.R., Withagen-Hermans, C.J., Nieuwlaat, A., Halley, D.J.J., van den Ouweland, A.M.W.
Published in Clinical genetics (01.04.2014)
Published in Clinical genetics (01.04.2014)
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Journal Article
A clinical and genetic overview of 18years neurofibromatosis type 1 molecular diagnostics in the Netherlands
van Minkelen, R, van Bever, Y, Kromosoeto, JNR, Withagen-Hermans, CJ, Nieuwlaat, A, Halley, DJJ, van den Ouweland, AMW
Published in Clinical genetics (01.04.2014)
Published in Clinical genetics (01.04.2014)
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Journal Article
PRKN-related familial Parkinson's disease: First molecular confirmation from East Africa
Dekker, M.C.J., Suleiman, J.M., Bhwana, D., Howlett, W.P., Rashid, S.M., van Minkelen, R., Hamel, B.C.
Published in Parkinsonism & related disorders (01.04.2020)
Published in Parkinsonism & related disorders (01.04.2020)
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Journal Article
Deciphering the natural history of SCA7 in children
Bah, M. G., Rodriguez, D., Cazeneuve, C., Mochel, F., Devos, D., Suppiej, A., Roubertie, A., Meunier, I., Gitiaux, C., Curie, A., Klapczynski, F., Allani‐Essid, N., Carneiro, M., Van Minkelen, R., Kievit, A., Fluss, J., Leheup, B., Ratbi, L., Héron, D., Gras, D., Do Cao, J., Pichard, S., Strubi‐Villaume, I., Audo, I., Lesca, G., Charles, P., Dubois, F., Comet‐Didierjean, P., Capri, Y., Barondiot, C., Barathon, M., Ewenczyk, C., Durr, A., Mignot, C.
Published in European journal of neurology (01.11.2020)
Published in European journal of neurology (01.11.2020)
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Journal Article
Genome‐wide linkage scan in affected sibling pairs identifies novel susceptibility region for venous thromboembolism: Genetics In Familial Thrombosis study
Visser, M.C.H., Minkelen, R., Marion, V., Heijer, M., Eikenboom, J., Vos, H.L., Slagboom, P.E., Houwing‐Duistermaat, J.J., Rosendaal, F.R., Bertina, R.M.
Published in Journal of thrombosis and haemostasis (01.08.2013)
Published in Journal of thrombosis and haemostasis (01.08.2013)
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Neurofilament light chain: a biomarker for genetic frontotemporal dementia
Meeter, Lieke H., Dopper, Elise G., Jiskoot, Lize C., Sanchez‐Valle, Raquel, Graff, Caroline, Benussi, Luisa, Ghidoni, Roberta, Pijnenburg, Yolande A., Borroni, Barbara, Galimberti, Daniela, Laforce, Robert Jr, Masellis, Mario, Vandenberghe, Rik, Ber, Isabelle Le, Otto, Markus, Minkelen, Rick, Papma, Janne M., Rombouts, Serge A., Balasa, Mircea, Öijerstedt, Linn, Jelic, Vesna, Dick, Katrina M., Cash, David M., Harding, Sophie R., Jorge Cardoso, M., Ourselin, Sebastien, Rossor, Martin N., Padovani, Alessandro, Scarpini, Elio, Fenoglio, Chiara, Tartaglia, Maria C., Lamari, Foudil, Barro, Christian, Kuhle, Jens, Rohrer, Jonathan D., Teunissen, Charlotte E., Swieten, John C.
Published in Annals of clinical and translational neurology (01.08.2016)
Published in Annals of clinical and translational neurology (01.08.2016)
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Journal Article
The Benson Complex Figure Test detects deficits in visuoconstruction and visual memory in symptomatic familial frontotemporal dementia: A GENFI study
Jiskoot, Lize C., Russell, Lucy L., Peakman, Georgia, Convery, Rhian S., Greaves, Caroline V., Bocchetta, Martina, Poos, Jackie M., Seelaar, Harro, Giannini, Lucia A.A., van Swieten, John C., van Minkelen, Rick, Pijnenburg, Yolande A.L., Rowe, James B., Borroni, Barbara, Galimberti, Daniela, Masellis, Mario, Tartaglia, Carmela, Finger, Elizabeth, Butler, Chris R., Graff, Caroline, Laforce, Robert, Sanchez-Valle, Raquel, de Mendonça, Alexandre, Moreno, Fermin, Synofzik, Matthis, Vandenberghe, Rik, Ducharme, Simon, le Ber, Isabelle, Levin, Johannes, Otto, Markus, Pasquier, Florence, Santana, Isabel, Cash, David M., Thomas, David, Rohrer, Jonathan D.
Published in Journal of the neurological sciences (15.03.2023)
Published in Journal of the neurological sciences (15.03.2023)
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Spatiotemporal analysis for detection of pre-symptomatic shape changes in neurodegenerative diseases: Initial application to the GENFI cohort
Cury, Claire, Durrleman, Stanley, Cash, David M., Lorenzi, Marco, Nicholas, Jennifer M., Bocchetta, Martina, van Swieten, John C., Borroni, Barbara, Galimberti, Daniela, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James B., Graff, Caroline, Tagliavini, Fabrizio, Frisoni, Giovanni B., Laforce, Robert, Finger, Elizabeth, de Mendonça, Alexandre, Sorbi, Sandro, Ourselin, Sebastien, Rohrer, Jonathan D., Modat, Marc, Andersson, Christin, Archetti, Silvana, Arighi, Andrea, Benussi, Luisa, Black, Sandra, Cosseddu, Maura, Fallstrm, Marie, Ferreira, Carlos, Fenoglio, Chiara, Fox, Nick, Freedman, Morris, Fumagalli, Giorgio, Gazzina, Stefano, Ghidoni, Roberta, Grisoli, Marina, Jelic, Vesna, Jiskoot, Lize, Keren, Ron, Lombardi, Gemma, Maruta, Carolina, Meeter, Lieke, van Minkelen, Rick, Nacmias, Benedetta, ijerstedt, Linn, Padovani, Alessandro, Panman, Jessica, Pievani, Michela, Polito, Cristina, Premi, Enrico, Prioni, Sara, Rademakers, Rosa, Redaelli, Veronica, Rogaeva, Ekaterina, Rossi, Giacomina, Rossor, Martin, Scarpini, Elio, Tang-Wai, David, Tartaglia, Carmela, Thonberg, Hakan, Tiraboschi, Pietro, Verdelho, Ana, Warren, Jason
Published in NeuroImage (Orlando, Fla.) (01.03.2019)
Published in NeuroImage (Orlando, Fla.) (01.03.2019)
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Journal Article
Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross‐sectional diffusion tensor imaging study
Jiskoot, Lize C., Bocchetta, Martina, Nicholas, Jennifer M., Cash, David M., Thomas, David, Modat, Marc, Ourselin, Sebastien, Rombouts, Serge A.R.B., Dopper, Elise G.P., Meeter, Lieke H., Panman, Jessica L., Minkelen, Rick, Ende, Emma L., Donker Kaat, Laura, Pijnenburg, Yolande A.L., Borroni, Barbara, Galimberti, Daniela, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James, Graff, Caroline, Tagliavini, Fabrizio, Frisoni, Giovanni B., Laforce, Robert, Finger, Elizabeth, Mendonça, Alexandre, Sorbi, Sandro, Papma, Janne M., Swieten, John C., Rohrer, Jonathan D., Andersson, Christin, Archetti, Silvana, Arighi, Andrea, Benussi, Luisa, Black, Sandra, Cosseddu, Maura, Fallström, Marie, Ferreira, Carlos, Fenoglio, Chiara, Fox, Nick, Freedman, Morris, Fumagalli, Giorgio, Gazzina, Stefano, Ghidoni, Roberta, Grisoli, Marina, Jelic, Vesna, Keren, Ron, Lombardi, Gemma, Maruta, Carolina, Mead, Simon, Nacmias, Benedetta, Öijerstedt, Linn, Padovani, Alessandro, Pievani, Michela, Polito, Cristina, Premi, Enrico, Prioni, Sara, Rademakers, Rosa, Rogaeva, Ekaterina, Rossi, Giacomina, Rossor, Martin, Scarpini, Elio, Tang‐Wai, David, Thonberg, Hakan, Tiraboschi, Pietro, Verdelho, Ana, Warren, Jason
Published in Annals of clinical and translational neurology (01.09.2018)
Published in Annals of clinical and translational neurology (01.09.2018)
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Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers
Meeter, Lieke H.H., Gendron, Tania F., Sias, Ana C., Jiskoot, Lize C., Russo, Silvia P., Donker Kaat, Laura, Papma, Janne M., Panman, Jessica L., Ende, Emma L., Dopper, Elise G., Franzen, Sanne, Graff, Caroline, Boxer, Adam L., Rosen, Howard J., Sanchez‐Valle, Raquel, Galimberti, Daniela, Pijnenburg, Yolande A. L., Benussi, Luisa, Ghidoni, Roberta, Borroni, Barbara, Laforce, Robert, del Campo, Marta, Teunissen, Charlotte E., Minkelen, Rick, Rojas, Julio C., Coppola, Giovanni, Geschwind, Dan H., Rademakers, Rosa, Karydas, Anna M., Öijerstedt, Linn, Scarpini, Elio, Binetti, Giuliano, Padovani, Alessandro, Cash, David M., Dick, Katrina M., Bocchetta, Martina, Miller, Bruce L., Rohrer, Jonathan D., Petrucelli, Leonard, Swieten, John C., Lee, Suzee E.
Published in Annals of clinical and translational neurology (01.05.2018)
Published in Annals of clinical and translational neurology (01.05.2018)
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Journal Article
Complete FXN deletion in a patient with Friedreich's ataxia
van den Ouweland, Ans M W, van Minkelen, Rick, Bolman, Galhana M, Wouters, Cokkie H, Becht-Noordermeer, Cindy, Deelen, Wout H, Deelen-Manders, J Marianne C, Ippel, Elly P F, Saris, Jasper, Halley, Dicky J J
Published in Genetic testing and molecular biomarkers (01.09.2012)
Published in Genetic testing and molecular biomarkers (01.09.2012)
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Journal Article
Increased neurofilament light chain correlates with decreased white matter integrity in presymptomatic and symptomatic granulin carriers
Panman, JL, Meeter, LHH, Dopper, EGP, Jiskoot, LC, Bouts, MJM, Moller, C, van Minkelen, R, Sanchez-Valle, R, Balasa, M, Graff, C, Oijerstedt, L, Jelic, V, Benussi, L, Ghidoni, R, Binetti, G, Barbara, B, Padovani, A, Galimberti, D, Scarpini, E, Fenoglio, C, Laforce, RJ, Vandenberghe, R, Le Ber, I, Lamari, F, Otto, M, Rohrer, JD, Cash, DM, Rombouts, SAR, Teunissen, CE, Papma, JM, van Swieten, JC
Published in JOURNAL OF NEUROCHEMISTRY (2016)
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Published in JOURNAL OF NEUROCHEMISTRY (2016)
Conference Proceeding
Neurofilament light chain: a biomarker for disease onset and survival in genetic frontotemporal dementia
Meeter, L, Dopper, E, Jiskoot, L, Sanchez-Valle, R, Graff, C, Benussi, L, Ghidoni, R, Pijnenburg, Y, Borroni, B, Galimberti, D, Laforce, RJ, Masellis, M, Vandenberghe, R, Le Ber, I, Otto, M, van Minkelen, R, Papma, J, Rombouts, S, Balasa, M, Oijerstedt, L, Jelic, V, Cash, D, Harding, S, Cardoso, MJ, Ourselin, S, Dick, K, Rossor, M, Binetti, G, Padovani, A, Scarpini, E, Fenoglio, C, Tartaglia, C, Lamari, F, Barro, C, Kuhle, J, Rohrer, J, Teunissen, C, van Swieten, J
Published in JOURNAL OF NEUROCHEMISTRY (2016)
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Published in JOURNAL OF NEUROCHEMISTRY (2016)
Conference Proceeding
Clinical Genetics
van den Ouweland, A. M. W., van Minkelen, R., Knijnenburg, J., van Slegtenhorst, M., Hoefsloot, L. H.
Published in Molecular Diagnostics (2017)
Published in Molecular Diagnostics (2017)
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