The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits

por Hoogeveen-Westerveld, Marianne, van Unen, Leontine, van den Ouweland, Ans, Halley, Dicky, Hoogeveen, Andre, Nellist, Mark
Publicado 2012

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

por van Gelder, Carin M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Plug, Iris, van der Ploeg, Ans T., Reuser, Arnold J. J.
Publicado 2014

Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant

por Živčić-Ćosić, Stela, Mayer, Karin, Đorđević, Gordana, Nellist, Mark, Hoogeveen-Westerveld, Marianne, Miletić, Damir, Rački, Sanjin, Klein, Hanns-Georg, Trobonjača, Zlatko
Publicado 2017

Identification of Regions Critical for the Integrity of the TSC1-TSC2-TBC1D7 Complex

por Santiago Lima, Arthur Jorge, Hoogeveen-Westerveld, Marianne, Nakashima, Akio, Maat-Kievit, Anneke, van den Ouweland, Ans, Halley, Dicky, Kikkawa, Ushio, Nellist, Mark
Publicado 2014

Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex

por Mozaffari, Melika, Hoogeveen-Westerveld, Marianne, Kwiatkowski, David, Sampson, Julian, Ekong, Rosemary, Povey, Sue, den Dunnen, Johan T, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark
Publicado 2009

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening

por de Faria, Douglas O. S., in ‘t Groen, Stijn L. M., Hoogeveen‐Westerveld, Marianne, Niño, Monica Y., van der Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim
Publicado 2020

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

por Niño, Monica Y., in 't Groen, Stijn L.M., Bergsma, Atze J., van der Beek, Nadine A.M.E., Kroos, Marian, Hoogeveen‐Westerveld, Marianne, van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2019

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

por Brands, Marion M, Hoogeveen-Westerveld, Marianne, Kroos, Marian A, Nobel, Willemieke, Ruijter, George J, Özkan, Lale, Plug, Iris, Grinberg, Daniel, Vilageliu, Lluïsa, Halley, Dicky J, Ploeg, Ans T van der, Reuser, Arnold J
Publicado 2013

PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex

por 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.
Publicado 2015

Broad variation in phenotypes for common GAA genotypes in Pompe disease

por Niño, Monica Y., in't Groen, Stijn L. M., de Faria, Douglas O. S., Hoogeveen‐Westerveld, Marianne, van den Hout, Hannerieke J. M. P., van der Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim
Publicado 2021

Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients

por Poelman, Esther, van den Dorpel, Jan J. A., Hoogeveen‐Westerveld, Marianne, van den Hout, Johanna M. P., van der Giessen, Lianne J., van der Beek, Nadine A. M. E., Pijnappel, W. W. M. Pim, van der Ploeg, Ans T.
Publicado 2020

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis

por Ekong, Rosemary, Nellist, Mark, Hoogeveen‐Westerveld, Marianne, Wentink, Marjolein, Panzer, Jessica, Sparagana, Steven, Emmett, Warren, Dawson, Natalie L., Malinge, Marie Claire, Nabbout, Rima, Carbonara, Caterina, Barberis, Marco, Padovan, Sergio, Futema, Marta, Plagnol, Vincent, Humphries, Steve E., Migone, Nicola, Povey, Sue
Publicado 2016

Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease

por 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.
Publicado 2022

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience

por 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
Publicado 2020

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

por 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
Publicado 2018

Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism

por Canibano‐Fraile, Rodrigo, Harlaar, Laurike, dos Santos, Carlos A., Hoogeveen‐Westerveld, Marianne, Demmers, Jeroen A. A., Snijders, Tim, Lijnzaad, Philip, Verdijk, Robert M., van der Beek, Nadine A. M. E., van Doorn, Pieter A., van der Ploeg, Ans T., Brusse, Esther, Pijnappel, W. W. M. Pim, Schaaf, Gerben J.
Publicado 2022

Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II

por 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
Publicado 2023

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

por Nellist, Mark, Brouwer, Rutger WW, Kockx, Christel EM, van Veghel-Plandsoen, Monique, Withagen-Hermans, Caroline, Prins-Bakker, Lida, Hoogeveen-Westerveld, Marianne, Mrsic, Alan, van den Berg, Mike MP, Koopmans, Anna E, de Wit, Marie-Claire, Jansen, Floor E, Maat-Kievit, Anneke JA, van den Ouweland, Ans, Halley, Dicky, de Klein, Annelies, van IJcken, Wilfred FJ
Publicado 2015

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

por Labrijn-Marks, Ineke, Somers-Bolman, Galhana M., In ’t Groen, Stijn L. M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara sa, Mavridou, Irene, Michelakakis, Helen, Naess, Karin, Verheijen, Frans W., Hoefsloot, Lies H., Dijkhuizen, Trijnie, Benjamins, Marloes, van den Hout, Hannerieke J. M., van der Ploeg, Ans T., Pijnappel, W. W. M. Pim, Saris, Jasper J., Halley, Dicky J.
Publicado 2019

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