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Items: 1 to 50 of 99

1.

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

Panneman DM, Wortmann SB, Haaxma CA, van Hasselt PM, Wolf NI, Hendriks Y, Küsters B, van Emst-de Vries S, van de Westerlo E, Koopman WJH, Wintjes L, van den Brandt F, de Vries M, Lefeber DJ, Smeitink JAM, Rodenburg RJ.

Clin Genet. 2020 Jan 19. doi: 10.1111/cge.13706. [Epub ahead of print]

PMID:
31957011
2.

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.

Haijes HA, Prinsen HCMT, de Sain-van der Velden MGM, Verhoeven-Duif NM, van Hasselt PM, Jans JJM.

Mol Genet Metab Rep. 2019 Dec 27;22:100551. doi: 10.1016/j.ymgmr.2019.100551. eCollection 2020 Mar.

3.

Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis.

Gomez-Giro G, Arias-Fuenzalida J, Jarazo J, Zeuschner D, Ali M, Possemis N, Bolognin S, Halder R, Jäger C, Kuper WFE, van Hasselt PM, Zaehres H, Del Sol A, van der Putten H, Schöler HR, Schwamborn JC.

Acta Neuropathol Commun. 2019 Dec 30;7(1):222. doi: 10.1186/s40478-019-0871-7.

4.

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Haijes HA, Molema F, Langeveld M, Janssen MC, Bosch AM, van Spronsen F, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Langendonk JG, Williams M, van Hasselt PM.

J Inherit Metab Dis. 2019 Dec 11. doi: 10.1002/jimd.12193. [Epub ahead of print]

PMID:
31828787
5.

Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders.

Haijes HA, Jaeken J, van Hasselt PM.

J Inherit Metab Dis. 2019 Dec 5. doi: 10.1002/jimd.12201. [Epub ahead of print]

PMID:
31804708
6.

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, De Laet C, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Bierau J, van Hasselt PM, Gissen P, Goyens PJ, McKiernan PJ, Wilcox G, Morris AAM, Jameson EA, Huijbregts SCJ, van Spronsen FJ.

Orphanet J Rare Dis. 2019 Dec 4;14(1):285. doi: 10.1186/s13023-019-1259-2.

7.

Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell Transplantation.

van den Broek BTA, van Egmond-Ebbeling MB, Achterberg JA, Boelens JJ, Vlessert IC, Prinsen HCMT, van Doorn J, van Hasselt PM.

Biol Blood Marrow Transplant. 2019 Nov 29. pii: S1083-8791(19)30831-6. doi: 10.1016/j.bbmt.2019.11.025. [Epub ahead of print]

PMID:
31786241
8.

Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity.

Rumping L, Pras-Raves ML, Gerrits J, Tang YF, Willemsen MA, Houwen RHJ, van Haaften G, van Hasselt PM, Verhoeven-Duif NM, Jans JJM.

Biochim Biophys Acta Gen Subj. 2020 Mar;1864(3):129484. doi: 10.1016/j.bbagen.2019.129484. Epub 2019 Nov 14.

9.

Glucose transporter type 1 deficiency syndrome and the ketogenic diet.

Schwantje M, Verhagen LM, van Hasselt PM, Fuchs SA.

J Inherit Metab Dis. 2019 Oct 12. doi: 10.1002/jimd.12175. [Epub ahead of print] Review.

PMID:
31605543
10.

Inborn errors of enzymes in glutamate metabolism.

Rumping L, Vringer E, Houwen RHJ, van Hasselt PM, Jans JJM, Verhoeven-Duif NM.

J Inherit Metab Dis. 2019 Oct 11. doi: 10.1002/jimd.12180. [Epub ahead of print] Review.

PMID:
31603991
11.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K.

Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep.

12.

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

Rumping L, Jans JJ, van Hasselt PM.

N Engl J Med. 2019 Sep 19;381(12):1185. doi: 10.1056/NEJMc1907427. No abstract available.

PMID:
31532978
13.

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.

Verhagen JMA, van den Born M, van der Linde HC, G J Nikkels P, Verdijk RM, Kivlen MH, van Unen LMA, Baas AF, Ter Heide H, van Osch-Gevers L, Hoogeveen-Westerveld M, Herkert JC, Bertoli-Avella AM, van Slegtenhorst MA, Wessels MW, Verheijen FW, Hassel D, Hofstra RMW, Hegde RS, van Hasselt PM, van Ham TJ, van de Laar IMBH.

Circ Genom Precis Med. 2019 Sep;12(9):397-406. doi: 10.1161/CIRCGEN.119.002507. Epub 2019 Aug 28.

PMID:
31461301
14.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM.

Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25.

PMID:
31353023
15.

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.

Haijes HA, de Sain-van der Velden MGM, Prinsen HCMT, Willems AP, van der Ham M, Gerrits J, Couse MH, Friedman JM, van Karnebeek CDM, Selby KA, van Hasselt PM, Verhoeven-Duif NM, Jans JJM.

Mol Genet Metab. 2019 Aug;127(4):368-372. doi: 10.1016/j.ymgme.2019.07.001. Epub 2019 Jul 9.

PMID:
31311714
16.

Motor function impairment is an early sign of CLN3 disease.

Kuper WFE, van Alfen C, van Eck L, Huijgen BCH, Nieuwenhuis EES, van Brussel M, van Hasselt PM.

Neurology. 2019 Jul 16;93(3):e293-e297. doi: 10.1212/WNL.0000000000007773. Epub 2019 Jun 10.

PMID:
31182507
17.

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications.

Haijes HA, Jans JJM, Tas SY, Verhoeven-Duif NM, van Hasselt PM.

J Inherit Metab Dis. 2019 Sep;42(5):730-744. doi: 10.1002/jimd.12129. Epub 2019 Aug 7. Review.

PMID:
31119747
18.

Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies.

Haijes HA, van Hasselt PM, Jans JJM, Verhoeven-Duif NM.

J Inherit Metab Dis. 2019 Sep;42(5):745-761. doi: 10.1002/jimd.12128. Epub 2019 Jul 9. Review.

PMID:
31119742
19.

Increasing the dose of oral vitamin K prophylaxis and its effect on bleeding risk.

Löwensteyn YN, Jansen NJG, van Heerde M, Klein RH, Kneyber MCJ, Kuiper JW, Riedijk MA, Verlaat CWM, Visser IHE, van Waardenburg DA, van Hasselt PM.

Eur J Pediatr. 2019 Jul;178(7):1033-1042. doi: 10.1007/s00431-019-03391-y. Epub 2019 May 6.

20.

Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid.

Haijes HA, van der Ham M, Gerrits J, van Hasselt PM, Prinsen HCMT, de Sain-van der Velden MGM, Verhoeven-Duif NM, Jans JJM.

Mol Genet Metab. 2019 May;127(1):51-57. doi: 10.1016/j.ymgme.2019.03.005. Epub 2019 Mar 15.

21.

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.

Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Gozalbo ER, de Sain-van der Velden MGM, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G.

J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8.

PMID:
30761551
22.

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study, Ng BG, Freeze HH, Lefeber DJ, Õunap K.

J Inherit Metab Dis. 2019 May;42(3):553-564. doi: 10.1002/jimd.12055. Epub 2019 Feb 11.

PMID:
30746764
23.

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.

Kuiper GA, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM, Garin C, Guffon N, van Hasselt PM, Hensman P, Jones SA, Kenis V, Kruyt M, van der Lee JH, Mackenzie WG, Orchard PJ, Oxborrow N, Parini R, Robinson A, Schubert Hjalmarsson E, White KK, Wijburg FA.

Orphanet J Rare Dis. 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5. Review.

24.

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.

Haijes HA, Willemsen M, Van der Ham M, Gerrits J, Pras-Raves ML, Prinsen HCMT, Van Hasselt PM, De Sain-van der Velden MGM, Verhoeven-Duif NM, Jans JJM.

Metabolites. 2019 Jan 11;9(1). pii: E12. doi: 10.3390/metabo9010012.

25.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH; Undiagnosed Diseases Network, Campeau PM.

Am J Hum Genet. 2019 Jan 3;104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20.

26.

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.

Rumping L, Büttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R.

JAMA Neurol. 2019 Mar 1;76(3):342-350. doi: 10.1001/jamaneurol.2018.2941.

27.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2019 Aug;21(8):1897-1898. doi: 10.1038/s41436-018-0327-7.

PMID:
30279470
28.

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.

Rumping L, Tessadori F, Pouwels PJW, Vringer E, Wijnen JP, Bhogal AA, Savelberg SMC, Duran KJ, Bakkers MJG, Ramos RJJ, Schellekens PAW, Kroes HY, Klomp DWJ, Black GCM, Taylor RL, Bakkers JPW, Prinsen HCMT, van der Knaap MS, Dansen TB, Rehmann H, Zwartkruis FJT, Houwen RHJ, van Haaften G, Verhoeven-Duif NM, Jans JJM, van Hasselt PM.

Hum Mol Genet. 2019 Jan 1;28(1):96-104. doi: 10.1093/hmg/ddy330.

PMID:
30239721
29.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. Erratum in: Genet Med. 2018 Oct 2;:.

30.

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.

Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM.

J Med Genet. 2018 Nov;55(11):753-764. doi: 10.1136/jmedgenet-2018-105441. Epub 2018 Aug 17.

PMID:
30120216
31.

Influence of PEGylation of Vitamin-K-Loaded Mixed Micelles on the Uptake by and Transport through Caco-2 Cells.

Sun F, Adrian M, Beztsinna N, van den Dikkenberg JB, Maas-Bakker RF, van Hasselt PM, van Steenbergen MJ, Su X, Kapitein LC, Hennink WE, van Nostrum CF.

Mol Pharm. 2018 Sep 4;15(9):3786-3795. doi: 10.1021/acs.molpharmaceut.8b00258. Epub 2018 Aug 14.

32.

Mixed micellar system stabilized with saponins for oral delivery of vitamin K.

Sun F, Ye C, Thanki K, Leng D, van Hasselt PM, Hennink WE, van Nostrum CF.

Colloids Surf B Biointerfaces. 2018 Oct 1;170:521-528. doi: 10.1016/j.colsurfb.2018.06.049. Epub 2018 Jun 23.

PMID:
29966905
33.

Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I.

van Doorn J, van den Broek BTA, Geboers AJ, Kuiper GA, Boelens JJ, van Hasselt PM.

Biol Blood Marrow Transplant. 2018 Sep;24(9):1808-1813. doi: 10.1016/j.bbmt.2018.06.001. Epub 2018 Jun 13.

34.

Aminoacyl-tRNA synthetase deficiencies in search of common themes.

Fuchs SA, Schene IF, Kok G, Jansen JM, Nikkels PGJ, van Gassen KLI, Terheggen-Lagro SWJ, van der Crabben SN, Hoeks SE, Niers LEM, Wolf NI, de Vries MC, Koolen DA, Houwen RHJ, Mulder MF, van Hasselt PM.

Genet Med. 2019 Feb;21(2):319-330. doi: 10.1038/s41436-018-0048-y. Epub 2018 Jun 6.

PMID:
29875423
35.

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

de Rooy RLP, Halbertsma FJ, Struijs EA, van Spronsen FJ, Lunsing RJ, Schippers HM, van Hasselt PM, Plecko B, Wohlrab G, Whalen S, Benoist JF, Valence S, Mills PB, Bok LA.

Eur J Paediatr Neurol. 2018 Jul;22(4):662-666. doi: 10.1016/j.ejpn.2018.03.009. Epub 2018 Mar 30.

PMID:
29661537
36.

Timing of cognitive decline in CLN3 disease.

Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM.

J Inherit Metab Dis. 2018 Mar;41(2):257-261. doi: 10.1007/s10545-018-0143-x. Epub 2018 Feb 1.

37.

Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.

de Sain-van der Velden MGM, Kuper WFE, Kuijper MA, van Kats LAT, Prinsen HCMT, Balemans ACJ, Visser G, van Gassen KLI, van Hasselt PM.

JIMD Rep. 2018;42:99-103. doi: 10.1007/8904_2017_86. Epub 2018 Jan 30.

38.

Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies.

van den Broek BTA, Page K, Paviglianiti A, Hol J, Allewelt H, Volt F, Michel G, Diaz MA, Bordon V, O'Brien T, Shaw PJ, Kenzey C, Al-Seraihy A, van Hasselt PM, Gennery AR, Gluckman E, Rocha V, Ruggeri A, Kurtzberg J, Boelens JJ.

Blood Adv. 2018 Jan 4;2(1):49-60. doi: 10.1182/bloodadvances.2017010645. eCollection 2018 Jan 9.

39.

Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation.

Aldenhoven M, van den Broek BTA, Wynn RF, O'Meara A, Veys P, Rovelli A, Jones SA, Parini R, van Hasselt PM, Renard M, Bordon V, de Koning TJ, Boelens JJ.

Blood Adv. 2017 Nov 7;1(24):2236-2242. doi: 10.1182/bloodadvances.2017011387. eCollection 2017 Nov 14. Erratum in: Blood Adv. 2017 Dec 07;1(26):2535.

40.

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF; DDD Study, Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kučinskas V, Alkuraya FS, Reymond A.

Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Epub 2017 Dec 28.

41.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.

Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110.

42.

A Case of Unexpected Adult-Onset Neurologic Decline in CLN3-Associated Retinal Degeneration.

Kuper WFE, van Alfen C, van Eck L, van den Broek BTA, Huisman A, van Genderen MM, van Hasselt PM.

JAMA Ophthalmol. 2017 Dec 1;135(12):1451-1453. doi: 10.1001/jamaophthalmol.2017.4353. No abstract available.

PMID:
29049447
43.

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

Stelten BML, Bonnot O, Huidekoper HH, van Spronsen FJ, van Hasselt PM, Kluijtmans LAJ, Wevers RA, Verrips A.

J Inherit Metab Dis. 2018 Jul;41(4):641-646. doi: 10.1007/s10545-017-0086-7. Epub 2017 Sep 11.

PMID:
28894950
44.

Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG.

Haijes HA, Jaeken J, Foulquier F, van Hasselt PM.

J Med Genet. 2018 Feb;55(2):137-142. doi: 10.1136/jmedgenet-2017-104586. Epub 2017 Aug 28.

PMID:
28848061
45.

Incomplete biomarker response in mucopolysaccharidosis type I after successful hematopoietic cell transplantation.

Kuiper GA, van Hasselt PM, Boelens JJ, Wijburg FA, Langereis EJ.

Mol Genet Metab. 2017 Sep;122(1-2):86-91. doi: 10.1016/j.ymgme.2017.05.009. Epub 2017 May 18.

PMID:
28684085
46.

Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.

Renkema GH, Visser G, Baertling F, Wintjes LT, Wolters VM, van Montfrans J, de Kort GAP, Nikkels PGJ, van Hasselt PM, van der Crabben SN, Rodenburg RJT.

Hum Genet. 2017 Jun;136(6):759-769. doi: 10.1007/s00439-017-1794-7. Epub 2017 Apr 6.

47.

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Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.

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J Clin Invest. 2017 Mar 1;127(3):1005-1018. doi: 10.1172/JCI90259. Epub 2017 Feb 13.

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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

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Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

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PMID:
27810516

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