Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers

por Meeter, Lieke H.H., Patzke, Holger, Loewen, Gordon, Dopper, Elise G.P., Pijnenburg, Yolande A.L., van Minkelen, Rick, van Swieten, John C.
Publicado 2016

Symmetrical Corticobasal Syndrome Caused by a Novel c.314dup Progranulin Mutation

por Dopper, Elise G. P., Seelaar, Harro, Chiu, Wang Zheng, de Koning, Inge, van Minkelen, Rick, Baker, Matthew C., Rozemuller, Annemieke J. M., Rademakers, Rosa, van Swieten, John C.
Publicado 2011

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

por van Minkelen, Rick, Guitart, Miriam, Escofet, Conxita, Yoon, Grace, Elfferich, Peter, Bolman, Galhana M., van der Helm, Robert, van de Graaf, Raoul, van den Ouweland, Ans M.W.
Publicado 2015

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

por Ottenhoff, Myrthe J., Rietman, André B., Mous, Sabine E., Plasschaert, Ellen, Gawehns, Daniela, Brems, Hilde, Oostenbrink, Rianne, van Minkelen, Rick, Nellist, Mark, Schorry, Elizabeth, Legius, Eric, Moll, Henriette A., Elgersma, Ype
Publicado 2020

A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson’s disease

por Fevga, Christina, Park, Yangshin, Lohmann, Ebba, Kievit, Anneke J., Breedveld, Guido J., Ferraro, Federico, de Boer, Leon, van Minkelen, Rick, Hanagasi, Hasmet, Boon, Agnita, Wang, Wei, Petsko, Gregory A., Hoang, Quyen Q., Emre, Murat, Bonifati, Vincenzo
Publicado 2021

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

por Vogt, Julia, Bengesser, Kathrin, Claes, Kathleen BM, Wimmer, Katharina, Mautner, Victor-Felix, van Minkelen, Rick, Legius, Eric, Brems, Hilde, Upadhyaya, Meena, Högel, Josef, Lazaro, Conxi, Rosenbaum, Thorsten, Bammert, Simone, Messiaen, Ludwine, Cooper, David N, Kehrer-Sawatzki, Hildegard
Publicado 2014

Cerebral blood flow in presymptomatic MAPT and GRN mutation carriers: A longitudinal arterial spin labeling study()

por Dopper, Elise G.P., Chalos, Vicky, Ghariq, Eidrees, den Heijer, Tom, Hafkemeijer, Anne, Jiskoot, Lize C., de Koning, Inge, Seelaar, Harro, van Minkelen, Rick, van Osch, Matthias J.P., Rombouts, Serge A.R.B., van Swieten, John C.
Publicado 2016

Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia

por Jiskoot, Lize C, Panman, Jessica L, Meeter, Lieke H, Dopper, Elise G P, Donker Kaat, Laura, Franzen, Sanne, van der Ende, Emma L, van Minkelen, Rick, Rombouts, Serge A R B, Papma, Janne M, van Swieten, John C
Publicado 2019

Longitudinal cognitive biomarkers predicting symptom onset in presymptomatic frontotemporal dementia

por Jiskoot, Lize C., Panman, Jessica L., van Asseldonk, Lauren, Franzen, Sanne, Meeter, Lieke H. H., Donker Kaat, Laura, van der Ende, Emma L., Dopper, Elise G. P., Timman, Reinier, van Minkelen, Rick, van Swieten, John C., van den Berg, Esther, Papma, Janne M.
Publicado 2018

Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic...

por de Boer, Sterre C. M., Woolley, Lauren, Mol, Merel O., Serpente, Maria, Reus, Lianne M., van Minkelen, Rick, van Vugt, Joke F. A., Sorrentino, Federica, Veldink, Jan H., Seelaar, Harro, Galimberti, Daniela, van Ruissen, Fred, Mead, Simon, Rogaeva, Ekaterina, Pijnenburg, Yolande A. L., van der Lee, Sven J.
Publicado 2022

Legius Syndrome in Fourteen Families

por Denayer, Ellen, Chmara, Magdalena, Brems, Hilde, Kievit, Anneke Maat, van Bever, Yolande, Van den Ouweland, Ans MW, Van Minkelen, Rick, de Goede-Bolder, Arja, Oostenbrink, Rianne, Lakeman, Phillis, Beert, Eline, Ishizaki, Takuma, Mori, Tomoaki, Keymolen, Kathelijn, Van den Ende, Jenneke, Mangold, Elisabeth, Peltonen, Sirkku, Brice, Glen, Rankin, Julia, Van Spaendonck-Zwarts, Karin Y, Yoshimura, Akihiko, Legius, Eric
Publicado 2011

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations

por Elfferich, Peter, Verleun-Mooijman, Marja C., Maat-Kievit, J. Anneke, van de Warrenburg, Bart P. C., Abdo, Wilson F., Eshuis, Sylvia A., Leenders, Klaus L., Hovestadt, Ad, Zijlmans, Jan C. M., Stroy, Jan-Pieter M., van Swieten, John C., Boon, Agnita J. W., van Engelen, Klaartje, Verschuuren-Bemelmans, Corien C., Lesnik-Oberstein, Saskia A. J., Tassorelli, Cristina, Lopiano, Leonardo, Bonifati, Vincenzo, Dooijes, Dennis, van Minkelen, Rick
Publicado 2011

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

por Douben, Hannie C. W., Nellist, Mark, van Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, Hoogeveen‐Westerveld, Marianne, Louwen, Jesse, van Veghel‐Plandsoen, Monique, de Valk, Walter, Saris, Jasper J., Hendriks, Femke, Korpershoek, Esther, Hoefsloot, Lies H., van Vliet, Margreethe, van Bever, Yolande, van de Laar, Ingrid, Aten, Emmelien, Lachmeijer, Augusta M. A., Taal, Walter, van den Bersselaar, Lisa, Schuurmans, Juliette, Oostenbrink, Rianne, van Minkelen, Rick, van Ierland, Yvette, van Ham, Tjakko J.
Publicado 2022

Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP

por Mol, Merel O., Nijmeijer, Sebastiaan W.R., van Rooij, Jeroen G. J., van Spaendonk, Resie M. L., Pijnenburg, Yolande A. L., van der Lee, Sven J., van Minkelen, Rick, Donker Kaat, Laura, Rozemuller, Annemieke J. M., Janse van Mantgem, Mark R., van Rheenen, Wouter, van Es, Michael A., Veldink, Jan H., Hennekam, Frederic A. M., Vernooij, Meike, van Swieten, John C., Cohn-Hokke, Petra E., Seelaar, Harro, Dopper, Elise G.P.
Publicado 2021

Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross‐sectional diffusion tensor imaging study

por 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., van Minkelen, Rick, van der 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, de Mendonça, Alexandre, Sorbi, Sandro, Papma, Janne M., van Swieten, John C., Rohrer, Jonathan D.
Publicado 2018

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

por 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, van 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., van Swieten, John C.
Publicado 2016

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers

por 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., van der 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., van 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, van Swieten, John C., Lee, Suzee E.
Publicado 2018

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

por Deng, Ruizhi, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A., van der Linde, Herma C., Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, Soheil, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, Geert, Mulder, Monique T., Ruijter, George J. G., Lütjohann, Dieter, Jacobs, Edwin H., Houlden, Henry, Pagnamenta, Alistair T., Metcalfe, Kay, Jackson, Adam, Banka, Siddharth, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, Muhammad, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, Maysoon, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H., van Ham, Tjakko J., Issa, Mahmoud, Zaki, Maha S., Gleeson, Joseph G., Willemsen, Rob, Kaya, Namik, Arold, Stefan T., Maroofian, Reza, Sanderson, Leslie E., Barakat, Tahsin Stefan
Publicado 2023

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

por Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.
Publicado 2018

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

por Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.
Publicado 2018