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Infantile sialic acid storage disease (ISSD): Report of the first case detected in Poland.
Published in:
Pediatrics International, 2003, v. 45, n. 2, p. 199, doi. 10.1046/j.1442-200X.2003.01693.x
By:
- Tylki-SzymáNska, Anna;
- Czartoryska, Barbara;
- Lugowska, Agnieszka;
- Verheijen, Frans W;
- Mancini, Grazia M S;
- Rokicki, Dariusz;
- Taybert, Joanna;
- ChmielíNska, Elzbieta
Publication type:
Article
Human RAD50 deficiency: Confirmation of a distinctive phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1378, doi. 10.1002/ajmg.a.61570
By:
- Ragamin, Aviël;
- Yigit, Gökhan;
- Bousset, Kristine;
- Beleggia, Filippo;
- Verheijen, Frans W.;
- Wit, Marie‐Claire Y.;
- Strom, Tim M.;
- Dörk, Thilo;
- Wollnik, Bernd;
- Mancini, Grazia M. S.
Publication type:
Article
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1601, doi. 10.1002/ajmg.a.38240
By:
- Huijmans, Jan G. M.;
- Schot, Rachel;
- de Klerk, Johannis B. C.;
- Williams, Monique;
- de Coo, René F. M.;
- Duran, Marinus;
- Verheijen, Frans W.;
- van Slegtenhorst, Marjon;
- Mancini, Grazia M. S.
Publication type:
Article
Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2161, doi. 10.1002/ajmg.a.36611
By:
- Poulton, Cathryn J.;
- Schot, Rachel;
- Seufert, Katja;
- Lequin, Maarten H.;
- Accogli, Andrea;
- Annunzio, Giuseppe D';
- Villard, Laurent;
- Philip, Nicole;
- de Coo, René;
- Catsman‐Berrevoets, Coriene;
- Grasshoff, Ute;
- Kattentidt‐Mouravieva, Anja;
- Calf, Hans;
- de Vreugt‐Gronloh, Erika;
- van Unen, Leontine;
- Verheijen, Frans W.;
- Galjart, Niels;
- Morris‐Rosendahl, Deborah J.;
- Mancini, Grazia M. S.
Publication type:
Article
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
Published in:
Nature Genetics, 1999, v. 23, n. 4, p. 462, doi. 10.1038/70585
By:
- Verheijen, Frans W.;
- Verbeek, Elly;
- Aula, Nina;
- Beerens, Cecile E.M.T.;
- Havelaar, Adrie C.;
- Joosse, Marijke;
- Peltonen, Leena;
- Aula, Pertti;
- Galjaard, Hans;
- van der Spek, Peter J.;
- Mancini, Grazia M.S.
Publication type:
Article
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Published in:
2017
By:
- Oegema, Renske;
- Baillat, David;
- Schot, Rachel;
- van Unen, Leontine M.;
- Brooks, Alice;
- Kia, Sima Kheradmand;
- Hoogeboom, A. Jeannette M.;
- Xia, Zheng;
- Li, Wei;
- Cesaroni, Matteo;
- Lequin, Maarten H.;
- van Slegtenhorst, Marjon;
- Dobyns, William B.;
- de Coo, Irenaeus F. M.;
- van den Berg, Debbie;
- Verheijen, Frans W.;
- Kremer, Andreas;
- van der Spek, Peter J.;
- Heijsman, Daphne;
- Wagner, Eric J.
Publication type:
Correction Notice
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Published in:
PLoS Genetics, 2017, v. 13, n. 5, p. 1, doi. 10.1371/journal.pgen.1006809
By:
- Oegema, Renske;
- Baillat, David;
- Schot, Rachel;
- van Unen, Leontine M.;
- Brooks, Alice;
- Kia, Sima Kheradmand;
- Hoogeboom, A. Jeannette M.;
- Xia, Zheng;
- Li, Wei;
- Cesaroni, Matteo;
- Lequin, Maarten H.;
- van Slegtenhorst, Marjon;
- Dobyns, William B.;
- de Coo, Irenaeus F. M.;
- Verheijen, Frans W.;
- Kremer, Andreas;
- van der Spek, Peter J.;
- Heijsman, Daphne;
- Wagner, Eric J.;
- Fornerod, Maarten
Publication type:
Article
Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15).
Published in:
PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0016983
By:
- Zhao, Tianna;
- Graaff, Esther De;
- Breedveld, Guido J.;
- Loda, Agnese;
- Severijnen, Lies-Anne;
- Wouters, Cokkie H.;
- Verheijen, Frans W.;
- Dekker, Marieke C. J.;
- Montagna, Pasquale;
- Willemsen, Rob;
- Oostra, Ben A.;
- Bonifati, Vincenzo
Publication type:
Article
COL4A2 mutation associated with familial porencephaly and small-vessel disease.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 8, p. 844, doi. 10.1038/ejhg.2012.20
By:
- Verbeek, Elly;
- Meuwissen, Marije EC;
- Verheijen, Frans W;
- Govaert, Paul P;
- Licht, Daniel J;
- Kuo, Debbie S;
- Poulton, Cathryn J;
- Schot, Rachel;
- Lequin, Maarten H;
- Dudink, Jeroen;
- Halley, Dicky J;
- de Coo, René IF;
- den Hollander, Jan C;
- Oegema, Renske;
- Gould, Douglas B;
- Mancini, Grazia MS
Publication type:
Article
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Published in:
2016
By:
- Olgiati, Simone;
- Quadri, Marialuisa;
- Fang, Mingyan;
- Rood, Janneke P.M.A.;
- Saute, Jonas A.;
- Chien, Hsin Fen;
- Bouwkamp, Christian G.;
- Graafland, Josja;
- Minneboo, Michelle;
- Breedveld, Guido J.;
- Zhang, Jianguo;
- Verheijen, Frans W.;
- Boon, Agnita J.W.;
- Kievit, Anneke J.A.;
- Jardim, Laura Bannach;
- Mandemakers, Wim;
- Barbosa, Egberto Reis;
- Rieder, Carlos R.M.;
- Leenders, Klaus L.;
- Wang, Jun
Publication type:
journal article
Free sialic acid storage disease without sialuria.
Published in:
Annals of Neurology, 2009, v. 65, n. 6, p. 753, doi. 10.1002/ana.21624
By:
- Mochel, Fanny;
- Yang, Bingzhi;
- Barritault, Julie;
- Thompson, Jerry N.;
- Engelke, Udo F. H.;
- McNeill, Nathan H.;
- Benko, William S.;
- Kaneski, Christine R.;
- Adams, David R.;
- Tsokos, Maria;
- Abu-Asab, Mones;
- Huizing, Marjan;
- Seguin, Francois;
- Wevers, Ron A.;
- Ding, Jiahuan;
- Verheijen, Frans W.;
- Schiffmann, Raphael
Publication type:
Article
COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.
Published in:
Annals of Neurology, 2009, v. 65, n. 1, p. 12, doi. 10.1002/ana.21525
By:
- de Vries, Linda S.;
- Koopman, Corine;
- Groenendaal, Floris;
- Van Schooneveld, Mary;
- Verheijen, Frans W.;
- Verbeek, Elly;
- Witkamp, Theo D.;
- van der Worp, H. Bart;
- Mancini, Grazia
Publication type:
Article
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 413, doi. 10.1007/s10545-010-9207-2
By:
- de Groot, Martijn J.;
- Cuppen, Marcel;
- Eling, Marc;
- Verheijen, Frans W.;
- Rings, Edmond H. H. M.;
- Reijngoud, Dirk‐Jan;
- de Vries, Maaike M. C.;
- van Spronsen, Francjan J.
Publication type:
Article
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. S413, doi. 10.1007/s10545-010-9207-2
By:
- de Groot, Martijn J.;
- Cuppen, Marcel;
- Eling, Marc;
- Verheijen, Frans W.;
- Rings, Edmond H. H. M.;
- Reijngoud, Dirk-Jan;
- de Vries, Maaike M. C.;
- van Spronsen, Francjan J.
Publication type:
Article
Autosomal Recessive Spinocerebellar Ataxia 7 ( SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease ( CLN2 Disease).
Published in:
Human Mutation, 2013, v. 34, n. 5, p. 706, doi. 10.1002/humu.22292
By:
- Sun, Yu;
- Almomani, Rowida;
- Breedveld, Guido J.;
- Santen, Gijs W.E.;
- Aten, Emmelien;
- Lefeber, Dirk J.;
- Hoff, Jorrit I.;
- Brusse, Esther;
- Verheijen, Frans W.;
- Verdijk, Rob M.;
- Kriek, Marjolein;
- Oostra, Ben;
- Breuning, Martijn H.;
- Losekoot, Monique;
- Dunnen, Johan T.;
- Warrenburg, Bart P.;
- Maat‐Kievit, Anneke J.A.
Publication type:
Article
Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 21, p. 4189, doi. 10.1093/hmg/ddq337
By:
- Visser, W. Edward;
- Swagemakers, Sigrid M.A.;
- Őzgűr, Zeliha;
- Schot, Rachel;
- Verheijen, Frans W.;
- van Ijcken, Wilfred F.J.;
- van der Spek, Peter J.;
- Visser, Theo J.
Publication type:
Article
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Published in:
2016
By:
- Olgiati, Simone;
- Skorvanek, Matej;
- Quadri, Marialuisa;
- Minneboo, Michelle;
- Graafland, Josja;
- Breedveld, Guido J.;
- Bonte, Ramon;
- Ozgur, Zeliha;
- Hout, Mirjam C.G.N.;
- Schoonderwoerd, Kees;
- Verheijen, Frans W.;
- IJcken, Wilfred F.J.;
- Chien, Hsin Fen;
- Barbosa, Egberto Reis;
- Chang, Hsiu‐Chen;
- Lai, Szu‐Chia;
- Yeh, Tu‐Hsueh;
- Lu, Chin‐Song;
- Wu‐Chou, Yah‐Huei;
- Kievit, Anneke J.A.
Publication type:
journal article
Sialic Acid Storage Disorders: Observations on Clinical and Biochemical Variation.
Published in:
Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 327, doi. 10.1159/000112181
By:
- Mancini, Grazia M. S.;
- Verheijen, Frans W.;
- Beerens, Cecile E. M. T.;
- Renlund, Martin;
- Aula, Pertti
Publication type:
Article

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