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Items: 1 to 50 of 196

1.

A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients.

Polet SS, Anderson DG, Koens LH, van Egmond ME, Drost G, Brusse E, Willemsen MA, Sival DA, Brouwer OF, Kremer HP, de Vries JJ, Tijssen MA, de Koning TJ.

Parkinsonism Relat Disord. 2020 Feb 18;72:44-48. doi: 10.1016/j.parkreldis.2020.02.005. [Epub ahead of print]

2.

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.

Dekker MCJ, Sadiq AM, Mc Larty R, Mbwasi RM, Willemsen MAAP, Waterham HR, Hamel BC.

Case Rep Genet. 2019 Dec 31;2019:6148425. doi: 10.1155/2019/6148425. eCollection 2019.

3.

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B.

Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7.

4.

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene.

Van Beusichem AE, Nicolai J, Verhoeven J, Speth L, Coenen M, Willemsen MA, Kamsteeg EJ, Stumpel C, Vermeulen RJ.

Neuropediatrics. 2020 Apr;51(2):146-153. doi: 10.1055/s-0039-3400988. Epub 2019 Dec 5.

PMID:
31805580
5.

Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.

Blom M, Schoenaker MHD, Hulst M, de Vries MC, Weemaes CMR, Willemsen MAAP, Henneman L, van der Burg M.

Front Immunol. 2019 Nov 6;10:2438. doi: 10.3389/fimmu.2019.02438. eCollection 2019.

6.

Classic ataxia-telangiectasia: the phenotype of long-term survivors.

van Os NJH, van Deuren M, Weemaes CMR, van Gaalen J, Hijdra H, Taylor AMR, van de Warrenburg BPC, Willemsen MAAP.

J Neurol. 2020 Mar;267(3):830-837. doi: 10.1007/s00415-019-09641-1. Epub 2019 Nov 27.

7.

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.

Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, Piton A, Vincent-Delorme C, Zweier C, Reis A, Trollmann R, Ruiz A, Gabau E, Vetro A, Guerrini R, Bakhtiari S, Kruer MC, Amor DJ, Cooper MS, Bijlsma EK, Barakat TS, van Dooren MF, van Slegtenhorst M, Pfundt R, Gilissen C, Willemsen MA, de Vries BBA, de Brouwer APM, Koolen DA.

Genet Med. 2020 Apr;22(4):797-802. doi: 10.1038/s41436-019-0703-y. Epub 2019 Nov 28.

PMID:
31776469
8.

A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.

van Tol W, Ashikov A, Korsch E, Abu Bakar N, Willemsen MA, Thiel C, Lefeber DJ.

JIMD Rep. 2019 Sep 30;50(1):31-39. doi: 10.1002/jmd2.12060. eCollection 2019 Nov.

9.

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.

10.

Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding.

van Samkar A, Leen WG, Willemsen MAAP, Verrips A.

Ann Neurol. 2020 Jan;87(1):10-11. doi: 10.1002/ana.25640. Epub 2019 Nov 21. No abstract available.

PMID:
31710728
11.

Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.

Schoenaker MHD, Blom M, de Vries MC, Weemaes CMR, van der Burg M, Willemsen MAAP.

Eur J Pediatr. 2020 Feb;179(2):251-256. doi: 10.1007/s00431-019-03479-5. Epub 2019 Nov 11.

12.

Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation.

Richters RJH, Seyger MMB, Meeuwis KAP, Rinne T, Eijkelenboom A, Willemsen MA.

Acta Derm Venereol. 2019 Oct 21. doi: 10.2340/00015555-3358. [Epub ahead of print] No abstract available.

13.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA.

Eur J Paediatr Neurol. 2019 Sep;23(5):692-706. doi: 10.1016/j.ejpn.2019.08.004. Epub 2019 Aug 10. Review.

PMID:
31481303
14.

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA.

Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15.

15.

The Ketogenic Diet and Its Effect on Bone Mineral Density: A Retrospective Observational Cohort Study.

Draaisma JMT, Hampsink BM, Janssen M, van Houdt NBM, Linders ETAM, Willemsen MA.

Neuropediatrics. 2019 Dec;50(6):353-358. doi: 10.1055/s-0039-1693059. Epub 2019 Aug 9.

PMID:
31398763
16.

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.

van Tol W, van Scherpenzeel M, Alsady M, Riemersma M, Hermans E, Kragt E, Tasca G, Kamsteeg EJ, Pennings M, van Beusekom E, Vermeulen JR, van Bokhoven H, Voermans NC, Willemsen MA, Ashikov A, Lefeber DJ.

Clin Chem. 2019 Oct;65(10):1295-1306. doi: 10.1373/clinchem.2019.305391. Epub 2019 Aug 2.

PMID:
31375477
17.

Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration.

Staps P, Cruysberg JRM, Roeleveld N, Willemsen MAAP, Theelen T.

Ophthalmol Retina. 2019 Jun;3(6):500-509. doi: 10.1016/j.oret.2019.01.023. Epub 2019 Feb 7.

PMID:
31174672
18.

De novo SPAST mutations may cause a complex SPG4 phenotype.

Schieving JH, de Bot ST, van de Pol LA, Wolf NI, Brilstra EH, Frints SG, van Gaalen J, Misra-Isrie M, Pennings M, Verschuuren-Bemelmans CC, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA.

Brain. 2019 Jul 1;142(7):e31. doi: 10.1093/brain/awz140. No abstract available.

PMID:
31157359
19.

Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.

van Tol W, Michelakakis H, Georgiadou E, van den Bergh P, Moraitou M, Papadimas GK, Papadopoulos C, Huijben K, Alsady M, Willemsen MA, Lefeber DJ.

J Inherit Metab Dis. 2019 Sep;42(5):984-992. doi: 10.1002/jimd.12095. Epub 2019 Apr 23.

PMID:
30931530
20.

Failure of ketogenic diet therapy in GLUT1 deficiency syndrome.

Bekker YAC, Lambrechts DA, Verhoeven JS, van Boxtel J, Troost C, Kamsteeg EJ, Willemsen MA, Braakman HMH.

Eur J Paediatr Neurol. 2019 May;23(3):404-409. doi: 10.1016/j.ejpn.2019.02.012. Epub 2019 Feb 27.

PMID:
30885501
21.

Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.

van Os NJH, Chessa L, Weemaes CMR, van Deuren M, Fiévet A, van Gaalen J, Mahlaoui N, Roeleveld N, Schrader C, Schindler D, Taylor AMR, Van de Warrenburg BPC, Dörk T, Willemsen MAAP.

J Med Genet. 2019 May;56(5):308-316. doi: 10.1136/jmedgenet-2018-105635. Epub 2019 Feb 28.

PMID:
30819809
22.

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity.

van Egmond ME, Contarino MF, Lugtenberg CHA, Peall KJ, Brouwer OF, Fung VSC, Roze E, Stewart RE, Willemsen MA, Wolf NI, de Koning TJ, Tijssen MA.

Mov Disord. 2019 Mar;34(3):317-320. doi: 10.1002/mds.27627. Epub 2019 Feb 6. No abstract available.

PMID:
30726575
23.

Extracapsular extension in the positive sentinel lymph node: a marker of poor prognosis in cT1-2N0 breast cancer patients?

Vane MLG, Willemsen MA, van Roozendaal LM, van Kuijk SMJ, Kooreman LFS, Siesling S, de Wilt HHW, Smidt ML.

Breast Cancer Res Treat. 2019 Apr;174(3):711-718. doi: 10.1007/s10549-018-05074-y. Epub 2019 Jan 4.

PMID:
30610488
24.

Daily Functioning and Quality of Life in Patients with Sjögren-Larsson Syndrome.

Staps P, de Groot IJM, van Gerven MHJC, Willemsen MAAP.

Neuropediatrics. 2019 Apr;50(2):89-95. doi: 10.1055/s-0038-1676854. Epub 2019 Jan 4.

PMID:
30609437
25.

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE.

Ann Neurol. 2019 Feb;85(2):170-180. doi: 10.1002/ana.25394.

26.

Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.

van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, Willemsen MAAP, van de Warrenburg BPC.

Neurology. 2019 Jan 1;92(1):e19-e29. doi: 10.1212/WNL.0000000000006700. Epub 2018 Nov 30.

PMID:
30504431
27.

Failing Transmission.

Willemsen MA.

Neuropediatrics. 2019 Feb;50(1):1. doi: 10.1055/s-0038-1675559. Epub 2018 Oct 29.

PMID:
30372765
28.

Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal.

Maas RPPWM, Kamsteeg EJ, Mangano S, Vázquez López ME, Nicolai J, Silver K, Fernández-Alvarez E, Willemsen MAAP.

Eur J Paediatr Neurol. 2018 Nov;22(6):1110-1117. doi: 10.1016/j.ejpn.2018.07.012. Epub 2018 Aug 15. Review.

PMID:
30194039
29.

A brother and sister with intellectual disability and characteristic neuroimaging findings.

Hermens M, van der Knaap MS, Kamsteeg EJ, Willemsen MA.

Eur J Paediatr Neurol. 2018 Sep;22(5):866-869. doi: 10.1016/j.ejpn.2018.06.005. Epub 2018 Jun 25.

PMID:
29970281
30.

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study.

de Mol CL, Wong YYM, van Pelt ED, Ketelslegers IA, Bakker DP, Boon M, Braun KPJ, van Dijk KGJ, Eikelenboom MJ, Engelen M, Geleijns K, Haaxma CA, Niermeijer JMF, Niks EH, Peeters EAJ, Peeters-Scholte CMPCD, Poll-The BT, Portier RP, de Rijk-van Andel JF, Samijn JPA, Schippers HM, Snoeck IN, Stroink H, Vermeulen RJ, Verrips A, Visscher F, Vles JSH, Willemsen MAAP, Catsman-Berrevoets CE, Hintzen RQ, Neuteboom RF.

J Neurol. 2018 Jun;265(6):1310-1319. doi: 10.1007/s00415-018-8835-6. Epub 2018 Mar 22.

31.

Dystonia in childhood: Rising networks.

Willemsen MA.

Eur J Paediatr Neurol. 2018 Mar;22(2):219-220. doi: 10.1016/j.ejpn.2018.01.020. No abstract available.

PMID:
29447766
32.

Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.

Schoenaker MHD, Van Os NJH, Van der Flier M, Van Deuren M, Seyger MM, Taylor AMR, Weemaes CMR, Willemsen MAAP.

Eur J Med Genet. 2018 May;61(5):284-287. doi: 10.1016/j.ejmg.2017.12.012. Epub 2017 Dec 26.

PMID:
29288088
33.

Author response: l-Dopa in dystonia: A modern perspective.

Maas RPPWM, van de Warrenburg BPC, Willemsen MAAP.

Neurology. 2018 Jan 2;90(1):47. doi: 10.1212/WNL.0000000000004783. No abstract available.

PMID:
29284656
34.

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

Maroofian R, Riemersma M, Jae LT, Zhianabed N, Willemsen MH, Wissink-Lindhout WM, Willemsen MA, de Brouwer APM, Mehrjardi MYV, Ashrafi MR, Kusters B, Kleefstra T, Jamshidi Y, Nasseri M, Pfundt R, Brummelkamp TR, Abbaszadegan MR, Lefeber DJ, van Bokhoven H.

Genome Med. 2017 Dec 22;9(1):118. doi: 10.1186/s13073-017-0505-2.

35.

Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome.

Braakman HMH, Engelen M, Nicolai J, Willemsen MAAP.

J Neurol Neurosurg Psychiatry. 2018 Jun;89(6):668-670. doi: 10.1136/jnnp-2017-316861. Epub 2017 Sep 26. No abstract available.

PMID:
28951496
36.

Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.

Staps P, Hogeveen M, Fuijkschot J, van Drongelen J, Willemsen MAAP.

J Perinat Med. 2018 Jul 26;46(5):523-529. doi: 10.1515/jpm-2017-0187.

PMID:
28915122
37.

Telangiectasias: Small lesions referring to serious disorders.

Schieving JH, Schoenaker MHD, Weemaes CM, van Deuren M, van der Flier M, Seyger MM, Willemsen MAAP.

Eur J Paediatr Neurol. 2017 Nov;21(6):807-815. doi: 10.1016/j.ejpn.2017.07.016. Epub 2017 Jul 29. Review.

PMID:
28803159
38.

Anemia in Glucose Transporter Type 1 Deficiency Syndrome: Often Expected, Rarely Encountered, and with a Fascinating Explanation.

Willemsen MA.

Neuropediatrics. 2017 Oct;48(5):327-328. doi: 10.1055/s-0037-1603519. Epub 2017 Jun 5. No abstract available.

PMID:
28582793
39.

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJH, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969b. No abstract available.

PMID:
28546572
40.

l-Dopa in dystonia: A modern perspective.

Maas RPPWM, Wassenberg T, Lin JP, van de Warrenburg BPC, Willemsen MAAP.

Neurology. 2017 May 9;88(19):1865-1871. doi: 10.1212/WNL.0000000000003897. Epub 2017 Apr 7. Review.

PMID:
28389587
41.

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Willemsen MA, Vissers LE, Verbeek MM, van Bon BW, Geuer S, Gilissen C, Klepper J, Kwint MP, Leen WG, Pennings M, Wevers RA, Veltman JA, Kamsteeg EJ.

Eur J Hum Genet. 2017 Jun;25(6):771-774. doi: 10.1038/ejhg.2017.45. Epub 2017 Apr 5.

42.

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.

Vissers LELM, van Nimwegen KJM, Schieving JH, Kamsteeg EJ, Kleefstra T, Yntema HG, Pfundt R, van der Wilt GJ, Krabbenborg L, Brunner HG, van der Burg S, Grutters J, Veltman JA, Willemsen MAAP.

Genet Med. 2017 Sep;19(9):1055-1063. doi: 10.1038/gim.2017.1. Epub 2017 Mar 23.

43.

Ataxia-telangiectasia: recommendations for multidisciplinary treatment.

van Os NJH, Haaxma CA, van der Flier M, Merkus PJFM, van Deuren M, de Groot IJM, Loeffen J, van de Warrenburg BPC, Willemsen MAAP; A-T Study Group.

Dev Med Child Neurol. 2017 Jul;59(7):680-689. doi: 10.1111/dmcn.13424. Epub 2017 Mar 20. Review.

44.

A post hoc study on gene panel analysis for the diagnosis of dystonia.

van Egmond ME, Lugtenberg CHA, Brouwer OF, Contarino MF, Fung VSC, Heiner-Fokkema MR, van Hilten JJ, van der Hout AH, Peall KJ, Sinke RJ, Roze E, Verschuuren-Bemelmans CC, Willemsen MA, Wolf NI, Tijssen MA, de Koning TJ.

Mov Disord. 2017 Apr;32(4):569-575. doi: 10.1002/mds.26937. Epub 2017 Feb 10.

PMID:
28186668
45.

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

van de Warrenburg BP, Schouten MI, de Bot ST, Vermeer S, Meijer R, Pennings M, Gilissen C, Willemsen MA, Scheffer H, Kamsteeg EJ.

Eur J Hum Genet. 2017 Feb;25(3):393. doi: 10.1038/ejhg.2016.168. No abstract available.

46.

Ataxia-telangiectasia: Immunodeficiency and survival.

van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, van der Flier M, Haaxma CA, Morio T, Rawat A, Schoenaker MHD, Soresina A, Taylor AMR, van de Warrenburg BPC, Weemaes CMR, Roeleveld N, Willemsen MAAP.

Clin Immunol. 2017 May;178:45-55. doi: 10.1016/j.clim.2017.01.009. Epub 2017 Jan 24.

47.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA.

Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Erratum in: Nat Genet. 2017 May 26;49(6):969.

PMID:
27992417
48.

Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis.

van Engen-van Grunsven AC, Rabold K, Küsters-Vandevelde HV, Rijntjes J, Djafarihamedani M, Hehir-Kwa JY, Küsters B, Willemsen MA, van der Burgt I, Wesseling P, Blokx WA, Groenen PJ.

Acta Neuropathol. 2017 Feb;133(2):333-335. doi: 10.1007/s00401-016-1654-x. Epub 2016 Dec 17. No abstract available.

PMID:
27988846
49.

Macular fibrosis complicating macular pigment deficient maculopathy in Sjögren-Larsson syndrome.

Theelen T, Cruysberg JR, Willemsen MA.

Acta Ophthalmol. 2016 Nov;94(7):e663-e664. doi: 10.1111/aos.13042. Epub 2016 Apr 7. No abstract available.

50.

Neurometabolic disorders: Five new things.

Willemsen MA, Harting I, Wevers RA.

Neurol Clin Pract. 2016 Aug;6(4):348-357. doi: 10.1212/CPJ.0000000000000266. Review.

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