Entanglement negativity and entropy in non-equilibrium conformal field theory von Hoogeveen, Marianne, Doyon, Benjamin

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Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity von Niño, Monica Y., in 't Groen, Stijn L.M., Bergsma, Atze J., Beek, Nadine A.M.E., Kroos, Marian, Hoogeveen‐Westerveld, Marianne, Ploeg, Ans T., Pijnappel, W.W.M. Pim

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening von Faria, Douglas O. S., Groen, Stijn L. M., Hoogeveen‐Westerveld, Marianne, Niño, Monica Y., Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim

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High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing von Douben, Hannie C. W., Nellist, Mark, Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, Hoogeveen‐Westerveld, Marianne, Louwen, Jesse, Veghel‐Plandsoen, Monique, Valk, Walter, Saris, Jasper J., Hendriks, Femke, Korpershoek, Esther, Hoefsloot, Lies H., Vliet, Margreethe, Bever, Yolande, Laar, Ingrid, Aten, Emmelien, Lachmeijer, Augusta M. A., Taal, Walter, Bersselaar, Lisa, Schuurmans, Juliette, Oostenbrink, Rianne, Minkelen, Rick, Ierland, Yvette, Ham, Tjakko J.

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Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism von Canibano‐Fraile, Rodrigo, Harlaar, Laurike, Santos, Carlos A., Hoogeveen‐Westerveld, Marianne, Demmers, Jeroen A. A., Snijders, Tim, Lijnzaad, Philip, Verdijk, Robert M., Beek, Nadine A. M. E., Doorn, Pieter A., Ploeg, Ans T., Brusse, Esther, Pijnappel, W. W. M. Pim, Schaaf, Gerben J.

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TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice von Abs, Elisabeth, Goorden, Susanna M. I., Schreiber, Jadwiga, Overwater, Iris E., Hoogeveen-Westerveld, Marianne, Bruinsma, Caroline F., Aganović, Elvedin, Borgesius, Nils Z., Nellist, Mark, Elgersma, Ype

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Genotype–phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype von Vollebregt, Audrey A M, Hoogeveen‐Westerveld, Marianne, Kroos, Marian A, Oussoren, Esmee, Plug, Iris, Ruijter, George J, van der Ploeg, Ans T, Pijnappel, W W M Pim

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Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients von Poelman, Esther, Dorpel, Jan J. A., Hoogeveen‐Westerveld, Marianne, Hout, Johanna M. P., Giessen, Lianne J., Beek, Nadine A. M. E., Pijnappel, W. W. M. Pim, Ploeg, Ans T.

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Broad variation in phenotypes for common GAA genotypes in Pompe disease von Niño, Monica Y., in't Groen, Stijn L. M., Faria, Douglas O. S., Hoogeveen‐Westerveld, Marianne, Hout, Hannerieke J. M. P., Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim

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Rheb Is Essential for Murine Development von Goorden, Susanna M. I., Hoogeveen-Westerveld, Marianne, Cheng, Caroline, van Woerden, Geeske M., Mozaffari, Melika, Post, Laura, Duckers, Henricus J., Nellist, Mark, Elgersma, Ype

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Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease von van Kooten, Harmke A, Ditters, Imke A M, Hoogeveen-Westerveld, Marianne, Jacobs, Edwin H, van den Hout, Johanna M P, van Doorn, Pieter A, Pijnappel, W W M Pim, van der Ploeg, Ans T, van der Beek, Nadine A M E

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Preliminary Functional Assessment and Classification of DEPDC5 Variants Associated with Focal Epilepsy von van Kranenburg, Melissa, Hoogeveen-Westerveld, Marianne, Nellist, Mark

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PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex von Alves, Maria M., Fuhler, Gwenny M., Queiroz, Karla C.S., Scholma, Jetse, Goorden, Susan, Anink, Jasper, Arnold Spek, C., Hoogeveen-Westerveld, Marianne, Bruno, Marco J., Nellist, Mark, Elgersma, Ype, Aronica, Eleonora, Peppelenbosch, Maikel P.

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Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex von Santiago Lima, Arthur Jorge, Hoogeveen-Westerveld, Marianne, Nakashima, Akio, Maat-Kievit, Anneke, van den Ouweland, Ans, Halley, Dicky, Kikkawa, Ushio, Nellist, Mark

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The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease von Kuperus, Esther, van der Meijden, Jan C, In 't Groen, Stijn L M, Kroos, Marian A, Hoogeveen-Westerveld, Marianne, Rizopoulos, Dimitris, Martinez, Monica Yasmin Nino, Kruijshaar, Michelle E, van Doorn, Pieter A, van der Beek, Nadine A M E, van der Ploeg, Ans T, Pijnappel, W W M Pim

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Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease von van Gelder, Carin M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Plug, Iris, van der Ploeg, Ans T., Reuser, Arnold J. J.

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Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II von Catalano, Fabio, Vlaar, Eva C., Katsavelis, Drosos, Dammou, Zina, Huizer, Tessa F., van den Bosch, Jeroen C., Hoogeveen-Westerveld, Marianne, van den Hout, Hannerieke J.M.P., Oussoren, Esmeralda, Ruijter, George J.G., Schaaf, Gerben, Pike-Overzet, Karin, Staal, Frank J.T., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim

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Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience von Niño, Monica Y, Wijgerde, Mark, de Faria, Douglas Oliveira Soares, Hoogeveen-Westerveld, Marianne, Bergsma, Atze J, Broeders, Mike, van der Beek, Nadine A M E, van den Hout, Hannerieke J M, van der Ploeg, Ans T, Verheijen, Frans W, Pijnappel, W W M Pim

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Identification and Characterization of Aberrant GAA Pre-mRNA Splicing in Pompe Disease Using a Generic Approach von Bergsma, Atze J., Kroos, Marian, Hoogeveen-Westerveld, Marianne, Halley, Dicky, van der Ploeg, Ans T., Pijnappel, W. W.

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Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex von Hoogeveen-Westerveld, Marianne, Ekong, Rosemary, Povey, Sue, Mayer, Karin, Lannoy, Nathalie, Elmslie, Frances, Bebin, Martina, Dies, Kira, Thompson, Catherine, Sparagana, Steven P., Davies, Peter, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark

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