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Items: 1 to 50 of 73

1.

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, van der Spek PJ, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Peeters E, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS.

Brain. 2019 Apr 1;142(4):867-884. doi: 10.1093/brain/awz045. Erratum in: Brain. 2019 Jun 1;142(6):e29.

2.

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.

Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, Groden C, Shimada S, Meyer-Schuman R, Hou YM, Gahl WA, Antonellis A, Salomons GS, Mancini GMS.

Am J Hum Genet. 2019 Mar 7;104(3):520-529. doi: 10.1016/j.ajhg.2019.01.006. Epub 2019 Feb 26.

PMID:
30824121
3.

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

Labrijn-Marks I, Somers-Bolman GM, In 't Groen SLM, Hoogeveen-Westerveld M, Kroos MA, Ala-Mello S, Amaral O, Miranda CS, Mavridou I, Michelakakis H, Naess K, Verheijen FW, Hoefsloot LH, Dijkhuizen T, Benjamins M, van den Hout HJM, van der Ploeg AT, Pijnappel WWMP, Saris JJ, Halley DJ.

Eur J Hum Genet. 2019 Jun;27(6):919-927. doi: 10.1038/s41431-019-0348-y. Epub 2019 Feb 8.

PMID:
30737479
4.

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczałuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Engle EC, Verheijen FW, Doherty D, Mancini GMS.

Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21.

5.

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PMJ, Hoencamp E, Bergink V; GROUP Study Consortium, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA.

Mol Psychiatry. 2019 May;24(5):757-771. doi: 10.1038/s41380-017-0004-2. Epub 2018 Jan 4.

PMID:
29302076
6.

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.

PLoS Genet. 2017 Aug 1;13(8):e1006923. doi: 10.1371/journal.pgen.1006923. eCollection 2017 Aug.

7.

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

Huijmans JGM, Schot R, de Klerk JBC, Williams M, de Coo RFM, Duran M, Verheijen FW, van Slegtenhorst M, Mancini GMS.

Am J Med Genet A. 2017 Jun;173(6):1601-1606. doi: 10.1002/ajmg.a.38240.

PMID:
28544736
8.

Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS.

PLoS Genet. 2017 May 25;13(5):e1006809. doi: 10.1371/journal.pgen.1006809. eCollection 2017 May. Erratum in: PLoS Genet. 2017 Aug 1;13(8):e1006923.

9.

Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice.

Stroobants S, Van Acker NG, Verheijen FW, Goris I, Daneels GF, Schot R, Verbeek E, Knaapen MW, De Bondt A, Göhlmann HW, Crauwels ML, Mancini GM, Andries LJ, Moechars DW, D'Hooge R.

Exp Neurol. 2017 May;291:106-119. doi: 10.1016/j.expneurol.2017.02.009. Epub 2017 Feb 9.

10.

From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides.

Bergsma AJ, In 't Groen SL, Verheijen FW, van der Ploeg AT, Pijnappel WWMP.

Mol Ther Nucleic Acids. 2016 Sep 13;5(9):e361. doi: 10.1038/mtna.2016.75. Erratum in: Mol Ther Nucleic Acids. 2016 Nov 29;5(11):e391.

11.

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Wiltink RC, Kruijshaar ME, van Minkelen R, Onkenhout W, Verheijen FW, Kemper EA, van Spronsen FJ, van der Ploeg AT, Niezen-Koning KE, Saris JJ, Williams M.

Eur J Hum Genet. 2016 Oct;24(10):1424-9. doi: 10.1038/ejhg.2016.65. Epub 2016 Jun 22.

12.

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM.

J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20.

13.

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

Olgiati S, Skorvanek M, Quadri M, Minneboo M, Graafland J, Breedveld GJ, Bonte R, Ozgur Z, van den Hout MC, Schoonderwoerd K, Verheijen FW, van IJcken WF, Chien HF, Barbosa ER, Chang HC, Lai SC, Yeh TH, Lu CS, Wu-Chou YH, Kievit AJ, Han V, Gdovinova Z, Jech R, Hofstra RM, Ruijter GJ, Mandemakers W, Bonifati V.

Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19.

PMID:
27090768
14.

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

Olgiati S, Quadri M, Fang M, Rood JP, Saute JA, Chien HF, Bouwkamp CG, Graafland J, Minneboo M, Breedveld GJ, Zhang J; International Parkinsonism Genetics Network, Verheijen FW, Boon AJ, Kievit AJ, Jardim LB, Mandemakers W, Barbosa ER, Rieder CR, Leenders KL, Wang J, Bonifati V.

Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14.

PMID:
26528954
15.

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

Poulton CJ, Schot R, Seufert K, Lequin MH, Accogli A, Annunzio GD, Villard L, Philip N, de Coo R, Catsman-Berrevoets C, Grasshoff U, Kattentidt-Mouravieva A, Calf H, de Vreugt-Gronloh E, van Unen L, Verheijen FW, Galjart N, Morris-Rosendahl DJ, Mancini GM.

Am J Med Genet A. 2014 Sep;164A(9):2161-71. doi: 10.1002/ajmg.a.36611. Epub 2014 May 19.

PMID:
24842779
16.

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).

Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ.

Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11.

PMID:
23418007
17.

Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy.

Geelen J, Pfundt R, Meijer J, Verheijen FW, van Kuilenburg AB, Warris A, Marcelis C.

J Allergy Clin Immunol. 2013 Jul;132(1):222-3. doi: 10.1016/j.jaci.2012.11.006. Epub 2012 Dec 20. No abstract available.

PMID:
23260757
18.

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.

Poulton C, Oegema R, Heijsman D, Hoogeboom J, Schot R, Stroink H, Willemsen MA, Verheijen FW, van de Spek P, Kremer A, Mancini GM.

Neurogenetics. 2013 Feb;14(1):43-51. doi: 10.1007/s10048-012-0351-8. Epub 2012 Dec 9.

PMID:
23224214
19.

RTTN mutations link primary cilia function to organization of the human cerebral cortex.

Kheradmand Kia S, Verbeek E, Engelen E, Schot R, Poot RA, de Coo IF, Lequin MH, Poulton CJ, Pourfarzad F, Grosveld FG, Brehm A, de Wit MC, Oegema R, Dobyns WB, Verheijen FW, Mancini GM.

Am J Hum Genet. 2012 Sep 7;91(3):533-40. doi: 10.1016/j.ajhg.2012.07.008. Epub 2012 Aug 30.

20.

COL4A2 mutation associated with familial porencephaly and small-vessel disease.

Verbeek E, Meuwissen ME, Verheijen FW, Govaert PP, Licht DJ, Kuo DS, Poulton CJ, Schot R, Lequin MH, Dudink J, Halley DJ, de Coo RI, den Hollander JC, Oegema R, Gould DB, Mancini GM.

Eur J Hum Genet. 2012 Aug;20(8):844-51. doi: 10.1038/ejhg.2012.20. Epub 2012 Feb 15.

21.

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.

Poulton CJ, Schot R, Kia SK, Jones M, Verheijen FW, Venselaar H, de Wit MC, de Graaff E, Bertoli-Avella AM, Mancini GM.

Am J Hum Genet. 2011 Aug 12;89(2):265-76. doi: 10.1016/j.ajhg.2011.07.006.

22.

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Reuser AJ, Verheijen FW, Bali D, van Diggelen OP, Germain DP, Hwu WL, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8. doi: 10.1016/j.ymgme.2011.07.014. Epub 2011 Jul 23. Review.

PMID:
21831684
23.

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.

van den Bosch J, Oemardien LF, Srebniak MI, Piraud M, Huijmans JG, Verheijen FW, Ruijter GJ.

J Inherit Metab Dis. 2011 Oct;34(5):1069-73. doi: 10.1007/s10545-011-9351-3. Epub 2011 May 27.

24.

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.

Meuwissen ME, de Vries LS, Verbeek HA, Lequin MH, Govaert PP, Schot R, Cowan FM, Hennekam R, Rizzu P, Verheijen FW, Wessels MW, Mancini GM.

Neurology. 2011 Mar 1;76(9):844-6. doi: 10.1212/WNL.0b013e31820e7751. No abstract available.

PMID:
21357838
25.

Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15).

Zhao T, De Graaff E, Breedveld GJ, Loda A, Severijnen LA, Wouters CH, Verheijen FW, Dekker MC, Montagna P, Willemsen R, Oostra BA, Bonifati V.

PLoS One. 2011 Feb 11;6(2):e16983. doi: 10.1371/journal.pone.0016983.

26.

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots.

Shigeto S, Katafuchi T, Okada Y, Nakamura K, Endo F, Okuyama T, Takeuchi H, Kroos MA, Verheijen FW, Reuser AJ, Okumiya T.

Mol Genet Metab. 2011 May;103(1):12-7. doi: 10.1016/j.ymgme.2011.01.006. Epub 2011 Jan 22.

PMID:
21320792
27.

Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots.

Oemardien LF, Boer AM, Ruijter GJ, van der Ploeg AT, de Klerk JB, Reuser AJ, Verheijen FW.

Mol Genet Metab. 2011 Jan;102(1):44-8. doi: 10.1016/j.ymgme.2010.09.008. Epub 2010 Sep 26.

PMID:
20947400
28.

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

Valstar MJ, Bruggenwirth HT, Olmer R, Wevers RA, Verheijen FW, Poorthuis BJ, Halley DJ, Wijburg FA.

J Inherit Metab Dis. 2010 Dec;33(6):759-67. doi: 10.1007/s10545-010-9199-y. Epub 2010 Sep 18.

29.

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.

de Groot MJ, Cuppen M, Eling M, Verheijen FW, Rings EH, Reijngoud DJ, de Vries MM, van Spronsen FJ.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S413-6. doi: 10.1007/s10545-010-9207-2. Epub 2010 Sep 18.

30.

Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.

Visser WE, Swagemakers SM, Ozgur Z, Schot R, Verheijen FW, van Ijcken WF, van der Spek PJ, Visser TJ.

Hum Mol Genet. 2010 Nov 1;19(21):4189-200. doi: 10.1093/hmg/ddq337. Epub 2010 Aug 12.

31.

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.

Mochel F, Engelke UF, Barritault J, Yang B, McNeill NH, Thompson JN, Vanderver A, Wolf NI, Willemsen MA, Verheijen FW, Seguin F, Wevers RA, Schiffmann R.

Neurology. 2010 Jan 26;74(4):302-5. doi: 10.1212/WNL.0b013e3181cbcdc4.

32.

Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.

Aldenhoven M, de Koning TJ, Verheijen FW, Prinsen BH, Wijburg FA, van der Ploeg AT, de Sain-van der Velden MG, Boelens J.

Biol Blood Marrow Transplant. 2010 May;16(5):701-4. doi: 10.1016/j.bbmt.2010.01.006. Epub 2010 Jan 21.

33.

Enzymatic and molecular strategies to diagnose Pompe disease.

Reuser A, Verheijen F, Kroos M, Okumiya T, Van Diggelen O, Van der Ploeg A, Halley D.

Expert Opin Med Diagn. 2010 Jan;4(1):79-89. doi: 10.1517/17530050903460300. Epub 2009 Dec 1.

PMID:
23496111
34.

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM.

Am J Hum Genet. 2009 Jul;85(1):40-52. doi: 10.1016/j.ajhg.2009.06.004. Epub 2009 Jun 25.

35.

Free sialic acid storage disease without sialuria.

Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R.

Ann Neurol. 2009 Jun;65(6):753-7. doi: 10.1002/ana.21624.

36.

COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

de Vries LS, Koopman C, Groenendaal F, Van Schooneveld M, Verheijen FW, Verbeek E, Witkamp TD, van der Worp HB, Mancini G.

Ann Neurol. 2009 Jan;65(1):12-8. doi: 10.1002/ana.21525.

PMID:
19194877
37.

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).

Mochel F, Sedel F, Vanderver A, Engelke UF, Barritault J, Yang BZ, Kulkarni B, Adams DR, Clot F, Ding JH, Kaneski CR, Verheijen FW, Smits BW, Seguin F, Brice A, Vanier MT, Huizing M, Schiffmann R, Durr A, Wevers RA.

Brain. 2009 Mar;132(Pt 3):801-9. doi: 10.1093/brain/awn355. Epub 2009 Jan 19.

38.

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification.

de Wit MC, Lequin MH, de Coo IF, Brusse E, Halley DJ, van de Graaf R, Schot R, Verheijen FW, Mancini GM.

Arch Neurol. 2008 Mar;65(3):358-66. doi: 10.1001/archneur.65.3.358.

PMID:
18332248
39.

Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.

de Wit MC, de Coo IF, Verbeek E, Schot R, Schoonderwoerd GC, Duran M, de Klerk JB, Huijmans JG, Lequin MH, Verheijen FW, Mancini GM.

Mol Genet Metab. 2006 Feb;87(2):102-6. Epub 2005 Nov 4.

PMID:
16275149
40.

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.

Biancheri R, Rossi A, Verbeek HA, Schot R, Corsolini F, Assereto S, Mancini GM, Verheijen FW, Minetti C, Filocamo M.

Neurogenetics. 2005 Dec;6(4):195-9. Epub 2005 Sep 17.

PMID:
16170568
41.

Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated.

Yarovaya N, Schot R, Fodero L, McMahon M, Mahoney A, Williams R, Verbeek E, de Bondt A, Hampson M, van der Spek P, Stubbs A, Masters CL, Verheijen FW, Mancini GM, Venter DJ.

Neurobiol Dis. 2005 Aug;19(3):351-65.

PMID:
16023578
42.

Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland.

Tylki-Szymańska A, Czartoryska B, Lugowska A, Verheijen FW, Mancini GM, Rokicki D, Taybert J, Chmielíńska E.

Pediatr Int. 2003 Apr;45(2):199-200. No abstract available.

PMID:
12709150
43.

Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

Parazzini C, Arena S, Marchetti L, Menni F, Filocamo M, Verheijen FW, Mancini GM, Triulzi F, Parini R.

AJNR Am J Neuroradiol. 2003 Mar;24(3):398-400. No abstract available.

44.

An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.

Biancheri R, Verbeek E, Rossi A, Gaggero R, Roccatagliata L, Gatti R, van Diggelen O, Verheijen FW, Mancini GM.

Clin Genet. 2002 Jun;61(6):443-7.

PMID:
12121352
45.

Lysosomal transport disorders.

Mancini GM, Havelaar AC, Verheijen FW.

J Inherit Metab Dis. 2000 May;23(3):278-92. Review.

PMID:
10863944
46.

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM.

Nat Genet. 1999 Dec;23(4):462-5.

PMID:
10581036
47.
48.

Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter.

Havelaar AC, Mancini GM, Beerens CE, Souren RM, Verheijen FW.

J Biol Chem. 1998 Dec 18;273(51):34568-74.

49.

Fibroblast silver loading for the diagnosis of Menkes disease.

Verheijen FW, Beerens CE, Havelaar AC, Kleijer WJ, Mancini GM.

J Med Genet. 1998 Oct;35(10):849-51.

50.

Characterization of a heavy metal ion transporter in the lysosomal membrane.

Havelaar AC, de Gast IL, Snijders S, Beerens CE, Mancini GM, Verheijen FW.

FEBS Lett. 1998 Oct 2;436(2):223-7.

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