Michel A. A. P. Willemsen: search on Z-Library

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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

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

3

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

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

15

SPIE Proceedings [SPIE SPIE Optical Systems Design - Jena, Germany (Monday 7 September 2015)] Optical Systems Design 2015: Advances in Optical Thin Films V - Optimization of novel phase separating IBS process

Lequime, Michel, Macleod, H. Angus, Ristau, Detlev, Jupé, Marco, Willemsen, Thomas, Malobabic, Sina, Schuba, Kornelia, Ristau, Detlev

Year:

2015

Language:

english

File:

PDF, 888 KB

english, 2015

16

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

Willemsen, Michèl A, Vissers, Lisenka ELM, Verbeek, Marcel M, van Bon, Bregje W, Geuer, Sinje, Gilissen, Christian, Klepper, Joerg, Kwint, Michael P, Leen, Wilhelmina G, Pennings, Maartje, Wevers, Ron

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.31 MB

english, 2017

17

Dystonia in childhood: Rising networks

Willemsen, Michèl A.

Journal:

European Journal of Paediatric Neurology

Year:

2018

Language:

english

File:

PDF, 248 KB

english, 2018

18

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

19

Short communication: Genetic association between schizophrenia and cannabis use

Verweij, Karin J.H., Abdellaoui, Abdel, Nivard, Michel G., Sainz Cort, Alberto, Ligthart, Lannie, Draisma, Harmen H.M., Minică, Camelia C., Gillespie, Nathan A., Willemsen, Gonneke, Hottenga, Jouke-Ja

Journal:

Drug and Alcohol Dependence

Year:

2017

Language:

english

File:

PDF, 350 KB

english, 2017

20

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

21

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

22

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

23

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

24

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

Mencacci, Niccolò E., Kamsteeg, Erik-Jan, Nakashima, Kosuke, R’Bibo, Lea, Lynch, David S., Balint, Bettina, Willemsen, Michèl A.A.P., Adams, Matthew E., Wiethoff, Sarah, Suzuki, Kazunori, Davies, Ceri

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.23 MB

english, 2016

25

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:

2016

Language:

english

File:

PDF, 369 KB

english, 2016

26

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

27

Sjögren–Larsson syndrome in clinical practice

Fuijkschot, Joris, Theelen, Thomas, Seyger, Marieke M. B., Graaf, Marinette, Groot, Imelda J. M., Wevers, Ron A., Wanders, Ronald J. A., Waterham, Hans R., Willemsen, Michèl A. A. P.

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 368 KB

english, 2012

28

Cognitive and speech-language performance in children with ataxia telangiectasia

Vinck, Anja, Verhagen, Mijke M. M., Gerven, Marjo van, de Groot, Imelda J. M., Weemaes, Corry M. R., Maassen, Ben A. M., Willemsen, Michel A. A. P.

Journal:

Developmental Neurorehabilitation

Year:

2011

Language:

english

File:

PDF, 125 KB

english, 2011

29

Genetic and environmental influences interact with age and sex in shaping the human methylome

van Dongen, Jenny, Nivard, Michel G., Willemsen, Gonneke, Hottenga, Jouke-Jan, Helmer, Quinta, Dolan, Conor V., Ehli, Erik A., Davies, Gareth E., van Iterson, Maarten, Breeze, Charles E., Beck, Stepha

Journal:

Nature Communications

Year:

2016

Language:

english

File:

PDF, 1.91 MB

english, 2016

30

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

Draaisma, Jos M.T., Hampsink, Brieke M., Janssen, Marcel, van Houdt, Nicole B.M., Linders, E. T.A.M., Willemsen, Michèl A.

Journal:

Neuropediatrics

Year:

2019

Language:

english

File:

PDF, 105 KB

english, 2019

31

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

32

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

33

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

34

The measurement of urinary Δ1-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency

Struys, Eduard A., Bok, Levinus A., Emal, Dina, Houterman, Saskia, Willemsen, Michel A., Jakobs, Cornelis

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 315 KB

english, 2012

35

Associations between Loneliness and Personality are Mostly Driven by a Genetic Association with Neuroticism

Abdellaoui, Abdel, Chen, Hsi-Yuan, Willemsen, Gonneke, Ehli, Erik A., Davies, Gareth E., Verweij, Karin J.H., Nivard, Michel G., de Geus, Eco J.C., Boomsma, Dorret I., Cacioppo, John T.

Journal:

Journal of Personality

Year:

2018

Language:

english

File:

PDF, 891 KB

english, 2018

36

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

37

Defective inactivation of leukotriene B4 in patients with Sjo ̈gren-Larsson syndrome

Michèl A.A.P. Willemsen, Jan G.N. de Jong, Peter H.M.F. van Domburg, Jan J. Rotteveel, Ronald J.A. Wanders, Ertan Mayatepek

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 35 KB

english, 2000

38

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

van Os, Nienke J. H., van Deuren, Marcel, Weemaes, Corry M. R., van Gaalen, Judith, Hijdra, Helma, Taylor, Alexander M. R., van de Warrenburg, Bart P. C., Willemsen, Michèl A. A. P.

Journal:

Journal of Neurology

Year:

2019

File:

PDF, 423 KB

2019

39

Sjo ̈gren-Larsson syndrome

Michèl A.A.P. Willemsen, Jan G.N. de Jong, Peter H.M.F. van Domburg, Jan J. Rotteveel, Ronald J.A. Wanders, Ertan Mayatepek

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 71 KB

english, 2000

40

Speech-language performance in Sjögren-Larsson syndrome

Fuijkschot, Joris, Maassen, Ben, Gorter, Jan Willem, Gerven, Marjo van, Willemsen, Michèl

Journal:

Developmental Neurorehabilitation

Year:

2009

Language:

english

File:

PDF, 91 KB

english, 2009

41

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

van Engen-van Grunsven, Adriana C. H., Rabold, Katrin, Küsters-Vandevelde, Heidi V. N., Rijntjes, Jos, Djafarihamedani, Melika, Hehir-Kwa, Jayne Y., Küsters, Benno, Willemsen, Michel A. A. P., van der

Journal:

Acta Neuropathologica

Year:

2017

Language:

english

File:

PDF, 574 KB

english, 2017

42

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

43

Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes

Bosch, Daniëlle GM, Boonstra, F, Willemsen, Michèl AAP, Cremers, Frans PM, de Vries, Bert BA

Journal:

BMC Ophthalmology

Year:

2014

Language:

english

File:

PDF, 216 KB

english, 2014

44

Callosal alterations in pyridoxine-dependent epilepsy

Friedman, Seth D, Ishak, Gisele E, Poliachik, Sandra L, Poliakov, Andrew V, Otto, Randolph K, Shaw, Dennis W W, Willemsen, Michèl A, Bok, Levinus A, Gospe, Sidney M

Journal:

Developmental Medicine & Child Neurology

Year:

2014

Language:

english

File:

PDF, 295 KB

english, 2014

45

Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome

Leen, Wilhelmina G., Wevers, Ron A., Kamsteeg, Erik-Jan, Scheffer, Hans, Verbeek, Marcel M., Willemsen, Michèl A.

Journal:

Year:

2013

Language:

english

File:

PDF, 326 KB

english, 2013

46

SPIE Proceedings [SPIE SPIE Optical Systems Design - Jena, Germany (Monday 7 September 2015)] Optical Systems Design 2015: Advances in Optical Thin Films V - Precise fabrication of ultra violet dielectric dispersion compensating mirrors

Lequime, Michel, Macleod, H. Angus, Ristau, Detlev, Willemsen, T., Schlichting, S., Kellermann, T., Jupé, M., Ehlers, H., Morgner, U., Ristau, D.

Year:

2015

Language:

english

File:

PDF, 514 KB

english, 2015

47

Failure of ketogenic diet therapy in GLUT1 deficiency syndrome

Bekker, Yvonne A.C., Lambrechts, Danielle A., Verhoeven, Judith S., van Boxtel, Jessy, Troost, Caroline, Kamsteeg, Erik-Jan, Willemsen, Michèl A., Braakman, Hilde M.H.

Journal:

European Journal of Paediatric Neurology

Year:

2019

Language:

english

File:

PDF, 4.30 MB

english, 2019

48

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

Tucci, Valter, Kleefstra, Tjitske, Hardy, Andrea, Heise, Ines, Maggi, Silvia, Willemsen, Marjolein H., Hilton, Helen, Esapa, Chris, Simon, Michelle, Buenavista, Maria-Teresa, McGuffin, Liam J., Vizor,

Journal:

Journal of Clinical Investigation

Year:

2014

Language:

english

File:

PDF, 3.83 MB

english, 2014

49

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

50

Dual time point method for the quantification of irreversible tracer kinetics: A reference tissue approach applied to [ 18 F]-FDOPA brain PET

Alves, Isadora L, Meles, Sanne K, Willemsen, Antoon TM, Dierckx, Rudi A, Marques da Silva, Ana M, Leenders, Klaus L, Koole, Michel

Journal:

Journal of Cerebral Blood Flow and Metabolism

Year:

2016

Language:

english

File:

PDF, 323 KB

english, 2016

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