Výsledky vyhledávání - van Minkelen, Rick

Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers Autor Meeter, Lieke H.H., Patzke, Holger, Loewen, Gordon, Dopper, Elise G.P., Pijnenburg, Yolande A.L., van Minkelen, Rick, van Swieten, John C.

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

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

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

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Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations Autor Wiltink, Rachel C, Kruijshaar, Michelle E, van Minkelen, Rick, Onkenhout, Willem, Verheijen, Frans W, Kemper, Evelien A, van Spronsen, Francjan J, van der Ploeg, Ans T, Niezen-Koning, Klary E, Saris, Jasper J, Williams, Monique

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

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

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

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

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Longitudinal cognitive biomarkers predicting symptom onset in presymptomatic frontotemporal dementia Autor 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.

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Legius Syndrome in Fourteen Families Autor 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

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

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The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome Autor Schepers, Dorien, Doyle, Alexander J, Oswald, Gretchen, Sparks, Elizabeth, Myers, Loretha, Willems, Patrick J, Mansour, Sahar, Simpson, Michael A, Frysira, Helena, Maat-Kievit, Anneke, Van Minkelen, Rick, Hoogeboom, Jeanette M, Mortier, Geert R, Titheradge, Hannah, Brueton, Louise, Starr, Lois, Stark, Zornitza, Ockeloen, Charlotte, Lourenco, Charles Marques, Blair, Ed, Hobson, Emma, Hurst, Jane, Maystadt, Isabelle, Destrée, Anne, Girisha, Katta M, Miller, Michelle, Dietz, Harry C, Loeys, Bart, Van Laer, Lut

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

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First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics Autor Rauen, Katherine A., Alsaegh, Abeer, Ben-Shachar, Shay, Berman, Yemima, Blakeley, Jaishri, Cordeiro, Isabel, Elgersma, Ype, Evans, D. Gareth, Fisher, Michael J., Frayling, Ian M., George, Joshi, Huson, Susan M., Kerr, Bronwyn, Khire, Uday, Korf, Bruce, Legius, Eric, Messiaen, Ludwine, van Minkelen, Rick, Nampoothiri, Sheela, Ngeow, Joanne, Parada, Luis F., Phadke, Shubha, Pillai, Ashok, Plotkin, Scott R., Puri, Ratna, Raji, Anup, Ramesh, Vijaya, Ratner, Nancy, Shankar, Suma P., Sharda, Sheetal, Tambe, Anant, Vikkula, Miikka, Widemann, Brigitte C., Wolkenstein, Pierre, Upadhyaya, Meena

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

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Neurofilament light chain: a biomarker for genetic frontotemporal dementia Autor 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.

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

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Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis Autor Rohrer, Jonathan D, Nicholas, Jennifer M, Cash, David M, van Swieten, John, Dopper, Elise, Jiskoot, Lize, van Minkelen, Rick, Rombouts, Serge A, Jorge Cardoso, M, Clegg, Shona, Espak, Miklos, Mead, Simon, Thomas, David L, De Vita, Enrico, Masellis, Mario, Black, Sandra E, Freedman, Morris, Keren, Ron, MacIntosh, Bradley J, Rogaeva, Ekaterina, Tang-Wai, David, Carmela Tartaglia, Maria, Laforce, Robert, Tagliavini, Fabrizio, Tiraboschi, Pietro, Redaelli, Veronica, Prioni, Sara, Grisoli, Marina, Borroni, Barbara, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Arighi, Andrea, Fumagalli, Giorgio, Rowe, James B, Coyle-Gilchrist, Ian, Graff, Caroline, Fallström, Marie, Jelic, Vesna, Ståhlbom, Anne Kinhult, Andersson, Christin, Thonberg, Håkan, Lilius, Lena, Frisoni, Giovanni B, Binetti, Giuliano, Pievani, Michela, Bocchetta, Martina, Benussi, Luisa, Ghidoni, Roberta, Finger, Elizabeth, Sorbi, Sandro, Nacmias, Benedetta, Lombardi, Gemma, Polito, Cristina, Warren, Jason D, Ourselin, Sebastien, Fox, Nick C, Rossor, Martin N

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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 Autor 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.

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