Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire by Lionarons, Judith M., de Groot, Imelda J. M., Fock, Johanna M., Klinkenberg, Sylvia, Vrijens, Desiree M. J., Vreugdenhil, Anita C. E., Medici-van den Herik, Evita G., Cuppen, Inge, Jaeger, Bregje, Niks, Erik H., Hoogerhuis, Rinske, Platte-van Attekum, Nicky, Feron, Frans J. M., Faber, Catharina G., Hendriksen, Jos G. M., Vles, Johan S. H.

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Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome by Smits, Daphne J., Dekker, Jordy, Douben, Hannie, Schot, Rachel, Magee, Helen, Bakhtiari, Somayeh, Koehler, Katrin, Huebner, Angela, Schuelke, Markus, Darvish, Hossein, Vosoogh, Shohreh, Tafakhori, Abbas, Jameie, Melika, Taghiabadi, Ehsan, Wilson, Yana, Shah, Margit, van Slegtenhorst, Marjon A., Medici-van den Herik, Evita G., van Ham, Tjakko J., Kruer, Michael C., Mancini, Grazia M.S.

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A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands by van Kleef, Esmee S.B., van de Camp, Sanne A.J.H., Groothuis, Jan T., Erasmus, Corrie E., Gaytant, Michael A., Vosse, Bettine A.H., de Weerd, Willemien, Verschuuren-Bemelmans, Corien C., Medici-Van den Herik, Evita G., Wallgren-Pettersson, Carina, Küsters, Benno, Schouten, Meyke, van Engelen, Baziel G.M., Ottenheijm, Coen A.C., Doorduin, Jonne, Voermans, Nicol C.

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Relationship of Von Willebrand Factor with carotid artery and aortic arch calcification in ischemic stroke patients by Sonneveld, Michelle A.H, van Dijk, Anouk C, van den Herik, Evita G, van Loon, Janine E, de Lau, Lonneke M.L, van der Lugt, Aad, Koudstaal, Peter J, de Maat, Moniek P.M, Leebeek, Frank W.G

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Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease by Zanoni, Paolo, Khetarpal, Sumeet A., Larach, Daniel B., Hancock-Cerutti, William F., Millar, John S., Cuchel, Marina, DerOhannessian, Stephanie, Kontush, Anatol, Surendran, Praveen, Saleheen, Danish, Trompet, Stella, Jukema, J. Wouter, De Craen, Anton, Deloukas, Panos, Sattar, Naveed, Ford, Ian, Packard, Chris, Majumder, Abdullah al Shafi, Alam, Dewan S., Di Angelantonio, Emanuele, Abecasis, Goncalo, Chowdhury, Rajiv, Erdmann, Jeanette, Nordestgaard, Børge G., Nielsen, Sune F., Tybjærg-Hansen, Anne, Schmidt, Ruth Frikke, Kuulasmaa, Kari, Liu, Dajiang J., Perola, Markus, Blankenberg, Stefan, Salomaa, Veikko, Männistö, Satu, Amouyel, Philippe, Arveiler, Dominique, Ferrieres, Jean, Müller-Nurasyid, Martina, Ferrario, Marco, Kee, Frank, Willer, Cristen J., Samani, Nilesh, Schunkert, Heribert, Butterworth, Adam S., Howson, Joanna M. M., Peloso, Gina M., Stitziel, Nathan O., Danesh, John, Kathiresan, Sekar, Rader, Daniel J.

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Association of two single nucleotide polymorphisms from genomewide association studies with clinical phenotypes of cerebral ischemia by van den Herik, Evita G., de Lau, Lonneke M. L., Mohamad, Arezo, Ikram, M. Arfan, Koudstaal, Peter J.

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases by Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan

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

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