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1

Polygenic risk scores for schizophrenia and bipolar disorder predict creativity

Power, Robert A, Steinberg, Stacy, Bjornsdottir, Gyda, Rietveld, Cornelius A, Abdellaoui, Abdel, Nivard, Michel M, Johannesson, Magnus, Galesloot, Tessel E, Hottenga, Jouke J, Willemsen, Gonneke, Cesa

Journal:

Nature Neuroscience

Year:

2015

Language:

english

File:

PDF, 340 KB

english, 2015

2

Nocturnal apnea in Chiari type I malformation

Lonneke A. M. Aarts, Michèl A. A. P. Willemsen, Nele L. E. VandenBussche, René van Gent

Journal:

European Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 183 KB

english, 2011

3

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Mills, Philippa B, Struys, Eduard, Jakobs, Cornelis, Plecko, Barbara, Baxter, Peter, Baumgartner, Matthias, Willemsen, Michèl A A P, Omran, Heymut, Tacke, Uta, Uhlenberg, Birgit

Journal:

Nature Medicine

Year:

2006

Language:

english

File:

PDF, 190 KB

english, 2006

4

T cell activation upon exposure to patient-derived tumor tissue: A functional assay to select patients for adoptive T cell therapy

Caroline Schroten, Robert Kraaij, Joke L.M. Veldhoven, Cor A. Berrevoets, Michael A. den Bakker, Qiangzhong Ma, Michel Sadelain, Chris H. Bangma, Ralph A. Willemsen, Reno Debets

Journal:

Journal of Immunological Methods

Year:

2010

Language:

english

File:

PDF, 629 KB

english, 2010

5

Patients with Sjögren-Larsson Syndrome Lack Macular Pigment

Rob L.P. van der Veen, Joris Fuijkschot, Michèl A.A.P. Willemsen, Johannes R.M. Cruysberg, Tos T.J.M. Berendschot, Thomas Theelen

Journal:

Year:

2010

Language:

english

File:

PDF, 1.01 MB

english, 2010

6

Rituximab and Intravenous Immunoglobulins for Relapsing Postinfectious Opsoclonus-Myoclonus Syndrome

Wilhelmina G. Leen, Corry M. Weemaes, Marcel M. Verbeek, Michèl A. Willemsen, Jan J. Rotteveel

Journal:

Pediatric Neurology

Year:

2008

Language:

english

File:

PDF, 81 KB

english, 2008

7

Long-term cognitive and cardiac outcomes after prenatal exposure to chemotherapy in children aged 18 months or older: an observational study

Frédéric Amant, Kristel Van Calsteren, Michael J Halaska, Mina Mhallem Gziri, Wei Hui, Lieven Lagae, Michèl A Willemsen, Livia Kapusta, Ben Van Calster, Heidi Wouters, Liesbeth Heyns, Sileny N Han, Vi

Journal:

The Lancet Oncology

Year:

2012

Language:

english

File:

PDF, 303 KB

english, 2012

8

Genetic and Environmental Stability in Attention Problems Across the Lifespan: Evidence From the Netherlands Twin Register

Kan, Kees-Jan, Dolan, Conor V., Nivard, Michel G., Middeldorp, Christel M., van Beijsterveldt, Catharina E.M., Willemsen, Gonneke, Boomsma, Dorret I.

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Year:

2013

Language:

english

File:

PDF, 323 KB

english, 2013

9

Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Questions

Wassenberg, Tessa, Willemsen, Michèl, Dijkman, Henry, Deinum, Jaap, Monnens, Leo

Journal:

Pediatric Nephrology

Year:

2017

Language:

english

File:

PDF, 401 KB

english, 2017

10

Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Answers

Wassenberg, Tessa, Willemsen, Michèl, Dijkman, Henry, Deinum, Jaap, Monnens, Leo

Journal:

Pediatric Nephrology

Year:

2017

Language:

english

File:

PDF, 507 KB

english, 2017

11

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

van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl AAP, Scheffer, Hans, Kamsteeg, Erik-Jan

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

12

l-Dopa in dystonia

Maas, Roderick P.P.W.M., Wassenberg, Tessa, Lin, Jean-Pierre, van de Warrenburg, Bart P.C., Willemsen, Michèl A.A.P.

Journal:

Year:

2017

Language:

english

File:

PDF, 206 KB

english, 2017

13

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

Maas, Roderick P.P.W.M., van de Warrenburg, Bart P.C., Willemsen, Michèl A.A.P.

Journal:

Year:

2018

Language:

english

File:

PDF, 77 KB

english, 2018

14

A brother and sister with intellectual disability and characteristic neuroimaging findings

Hermens, Marjolein, van der Knaap, Marjo S., Kamsteeg, Erik-Jan, Willemsen, Michèl A.

Journal:

European Journal of Paediatric Neurology

Year:

2018

Language:

english

File:

PDF, 710 KB

english, 2018

15

Simvastatin and plasma very-long-chain fatty acids in X-linked adrenoleukodystrophy

Aad Verrips, Michèl A. A. P. Willemsen, Estela Rubio-Gozalbo, Jan De Jong, Jan A. M. Smeitink

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 598 KB

english, 2000

16

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi–Goutières syndrome

Charlotte A. Haaxma, Yanick J. Crow, Maurice A.M. van Steensel, Martin M.Y. Lammens, Gillian I. Rice, Marcel M. Verbeek, Michèl A.A.P. Willemsen

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 324 KB

english, 2010

17

A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease

Sonia M. Rosso, Esther Van Herpen, Wout Deelen, Wouter Kamphorst, Lies-Anne Severijnen, Rob Willemsen, Rivka Ravid, Martinus F. Niermeijer, Dennis Dooijes, Michael J. Smith, Michel Goedert, Peter Heut

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 3.45 MB

english, 2002

18

Hypoglycorrhachia: A simple clue, simply missed

Michèl A.A.P. Willemsen, Aad Verrips, Marcel M. Verbeek, Thomas Voit, Jörg Klepper

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 140 KB

english, 2001

19

Pipecolic acid: A diagnostic marker in pyridoxine-dependent epilepsy

Michèl A. A. P. Willemsen, Annelies M. C. Mavinkurve-Groothuis, Ron A. Wevers, Jan J. Rotteveel, Cornelis Jakobs

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 42 KB

english, 2005

20

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene

Marcel M. Verbeek, Gerry C. H. Steenbergen-Spanjers, Michèl A. A. P. Willemsen, Frans A. Hol, Jan Smeitink, Jürgen Seeger, Padraic Grattan-Smith, Monique M. Ryan, Georg F. Hoffmann, Maria A. Donati, N

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 144 KB

english, 2007

21

An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1)

Gajja S. Salomons, Levinus A. Bok, Eduard A. Struys, Lorna Landegge Pope, Patricia S. Darmin, Philippa B. Mills, Peter T. Clayton, Michèl A. Willemsen, Cornelis Jakobs

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 482 KB

english, 2007

22

Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional 1H and two-dimensional 1H-13C NMR

Udo F. H. Engelke, Albert Tangerman, Michèl A. A. P. Willemsen, Detlef Moskau, Sandra Loss, S. Harvey Mudd, Ron A. Wevers

Journal:

NMR in Biomedicine

Year:

2005

Language:

english

File:

PDF, 338 KB

english, 2005

23

Motor problems in Prader–Willi syndrome: A systematic review on body composition and neuromuscular functioning

Linda Reus, Machiel Zwarts, Leo A. van Vlimmeren, Michel A. Willemsen, Barto J. Otten, Maria W.G. Nijhuis-van der Sanden

Journal:

Neuroscience & Biobehavioral Reviews

Year:

2011

Language:

english

File:

PDF, 353 KB

english, 2011

24

A Novel 4 bp Deletion Mutation in the FALDH Gene Segregating in a Turkish Family with Sjögren–Larsson Syndrome

Willemsen, Michel A A P, Steijlen, Peter M, de Jong, Jan G N, Rotteveel, Jan J, IJlst, Lodewijk, van Werkhoven, Michiel A, Wanders, Ronald J A

Journal:

The Journal of Investigative Dermatology

Year:

1999

Language:

english

File:

PDF, 296 KB

english, 1999

25

Ataxia-Telangiectasia and mechanical ventilation: A word of caution

Mijke M.M. Verhagen, Jan-Bart Yntema, Corry M.R. Weemaes, Michèl A.A.P. Willemsen, Mijke M.M. Verhagen, Marcel van Deuren, Hans J. Van der Hoeven, Chris Neeleman, Yvonne F. Heijdra

Journal:

Pediatric Pulmonology

Year:

2009

Language:

english

File:

PDF, 38 KB

english, 2009

26

Letter to the editor: Ataxia-Telangiectasia and mechanical ventilation: A word of caution

Mijke M.M. Verhagen, Marcel van Deuren, Michèl A.A. P. Willemsen, Hans J. van der Hoeven, Yvonne F. Heijdra, Jan-Bart Yntema, Corry M.R. Weemaes, Chris Neeleman

Journal:

Pediatric Pulmonology

Year:

2009

Language:

english

File:

PDF, 28 KB

english, 2009

27

Pulmonary function tests in patients with ataxia-telangiectasia: Obstructive or restrictive lung dysfunction?

Chris Neeleman, Mijke Verhagen, Marcel van Deuren, Michèl Willemsen, Hans van der Hoeven, Jan Bart Yntema, Corry Weemaes, Yvonne Heijdra

Journal:

Pediatric Pulmonology

Year:

2010

Language:

english

File:

PDF, 34 KB

english, 2010

28

Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene

Michel A. A. P. Willemsen, Guido J. Breedveld, Siep Wouda, Barto J. Otten, Jan L. Yntema, Martin Lammens, Bert B. A. de Vries

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 160 KB

english, 2005

29

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures

Levinus A. Bok, Jasper V. Been, Eduard A. Struys, Cornelis Jakobs, Elisabeth A. M. Rijper, Michèl A. Willemsen

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 132 KB

english, 2010

30

Clinical practice

Corrie E. Erasmus, Karen van Hulst, Jan J. Rotteveel, Michel A. A. P. Willemsen, Peter H. Jongerius

Journal:

European Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 199 KB

english, 2012

31

Growth hormone producing prolactinoma in juvenile cystinosis: a simple coincidence?

Martine T. P. Besouw, Elena N. Levtchenko, Michèl A. A. P. Willemsen, Kees Noordam

Journal:

Pediatric Nephrology

Year:

2008

Language:

english

File:

PDF, 184 KB

english, 2008

32

Unexplained hypothermia and bradycardia in two pediatric patients with Wegener’s granulomatosis

Lianne M. Geerdink, Linda Koster-Kamphuis, Elisabeth A. M. Cornelissen, Michèl A. Willemsen, Nicole C. A. J. van de Kar

Journal:

Pediatric Nephrology

Year:

2011

Language:

english

File:

PDF, 110 KB

english, 2011

33

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

Sascha Vermeer, David A Koolen, Gepke Visser, Hein J L Brackel, Ineke Van Der Burgt, Nicole De Leeuw, Michèl A A P Willemsen, Erik A Sistermans, Rolph Pfundt, Bert B A De Vries

Journal:

Developmental Medicine & Child Neurology

Year:

2007

Language:

english

File:

PDF, 442 KB

english, 2007

34

Sjögren–Larsson syndrome: motor performance and everyday functioning in 17 patients

Judith Verhoog, Joris Fuijkschot, Michèl Willemsen, Marjolijn Ketelaar, Jan Rotteveel, Jan Willem Gorter

Journal:

Developmental Medicine & Child Neurology

Year:

2008

Language:

english

File:

PDF, 117 KB

english, 2008

35

Mongolian Spots in Sjögren-Larsson Syndrome

MICHÈL A. WILLEMSEN, JAN J. ROTTEVEEL

Journal:

Pediatric Dermatology

Year:

2008

Language:

english

File:

PDF, 105 KB

english, 2008

36

The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy

Levinus A. Bok, Natasha M. Maurits, Michèl A. Willemsen, Cornelis Jakobs, Laura K. Teune, Bwee Tien Poll-The, Irenaeus F. De Coo, Mona C. Toet, Eveline E. Hagebeuk, Oebele F. Brouwer, Johannes H. Van

Journal:

Year:

2010

Language:

english

File:

PDF, 297 KB

english, 2010

37

Homozygosity mapping in outbred families with mental retardation

Schuurs-Hoeijmakers, Janneke H M, Hehir-Kwa, Jayne Y, Pfundt, Rolph, van Bon, Bregje W M, de Leeuw, Nicole, Kleefstra, Tjitske, Willemsen, Michèl A, van Kessel, Ad Geurts, Brunner, Han G, Veltman, Jor

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 424 KB

english, 2011

38

The growing skull fracture, a rare complication of paediatric head injury

Bas Zegers, Petr Jira, Michel Willemsen, Jan Grotenhuis

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 135 KB

english, 2003

39

Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome

Michèl A. Willemsen,Monique A. Lutt,Peter M. Steijlen…

Journal:

European Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 118 KB

english, 2001

40

B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement

Maïlys Guillard, Eva Morava, Jorg de Ruijter, Tony Roscioli, Johann Penzien, Lambert van den Heuvel, Michel A. Willemsen, Arjan de Brouwer, Olaf A. Bodamer, Ron A. Wevers, Dirk J. Lefeber

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 291 KB

english, 2011

41

Neuropathology in classical and variant ataxia-telangiectasia

Mijke M.M. Verhagen, Jean-Jacques Martin, Marcel van Deuren, Chantal Ceuterick-de Groote, Corry M.R. Weemaes, Berry H.P.H. Kremer, Malcolm A.R. Taylor, Michèl A.A.P. Willemsen, Martin Lammens

Journal:

Year:

2012

Language:

english

File:

PDF, 465 KB

english, 2012

42

Long-term outcome in pyridoxine-dependent epilepsy

LEVINUS A BOK, FEICO J HALBERTSMA, SASKIA HOUTERMAN, RON A WEVERS, CHARLOTTE VREESWIJK, CORNELIS JAKOBS, EDUARD STRUYS, JOHAN H VAN DER HOEVEN, DEBORAH A SIVAL, MICHÈL A WILLEMSEN

Journal:

Developmental Medicine & Child Neurology

Year:

2012

Language:

english

File:

PDF, 123 KB

english, 2012

43

New mitochondrial tRNAHIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS)

Maria Antonietta Calvaruso, Michel A. Willemsen, Richard J. Rodenburg, Mariël van den Brand, Jan A.M. Smeitink, Leo Nijtmans

Journal:

Year:

2011

Language:

english

File:

PDF, 511 KB

english, 2011

44

Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease)

Graham W. Kay, Marcel M. Verbeek, Julie M. Furlong, Michèl A.A.P. Willemsen, David N. Palmer

Journal:

Neurochemistry International

Year:

2009

Language:

english

File:

PDF, 169 KB

english, 2009

45

Subclinical Changes in the Juvenile Crystalline Macular Dystrophy in Sjögren–Larsson Syndrome Detected by Optical Coherence Tomography

Joris Fuijkschot, Johannes R.M. Cruysberg, Michèl A.A.P. Willemsen, Jan E.E. Keunen, Thomas Theelen

Journal:

Year:

2008

Language:

english

File:

PDF, 3.31 MB

english, 2008

46

Novel mutations in three patients with LGMD2C with phenotypic differences

Sascha Vermeer, Aad Verrips, Michèl A.A.P. Willemsen, Henk J. ter Laak, Ieke B. Ginjaar, Ben C.J. Hamel

Journal:

Pediatric Neurology

Year:

2004

Language:

english

File:

PDF, 160 KB

english, 2004

47

Congenital Cataract Facial Dysmorphism Neuropathy Syndrome: A Clinically Recognizable Entity

George Shabo, Hans Scheffer, Johannes R.M. Cruysberg, Martin Lammens, Jaco W. Pasman, Maarten Spruit, Michèl A.A.P. Willemsen

Journal:

Pediatric Neurology

Year:

2005

Language:

english

File:

PDF, 184 KB

english, 2005

48

Chronic Herpes Simplex Virus Encephalitis in Childhood

Wilhelmina G. Leen, Corry M. Weemaes, Marcel M. Verbeek, Michèl A. Willemsen, Jan J. Rotteveel

Journal:

Pediatric Neurology

Year:

2006

Language:

english

File:

PDF, 140 KB

english, 2006

49

The Spectrum of Polyneuropathies in Childhood Detected with Electromyography

George Shabo, Jaco W. Pasman, Nens van Alfen, Michèl A.A.P. Willemsen

Journal:

Pediatric Neurology

Year:

2007

Language:

english

File:

PDF, 128 KB

english, 2007

50

Two Greek siblings with sepiapterin reductase deficiency

Marcel M. Verbeek, Michel A.A.P. Willemsen, Ron A. Wevers, Aart J. Lagerwerf, Nico G.G.M. Abeling, Nenad Blau, Beat Thöny, Euthymia Vargiami, Dimitrios I. Zafeiriou

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 329 KB

english, 2008

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