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

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

51

Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome

Michèl A.A.P Willemsen, Johannes R.M Cruysberg, Jan J Rotteveel, Albert L Aandekerk, Peter H.M.F Van Domburg, August F Deutman

Journal:

American Journal of Ophthalmology

Year:

2000

Language:

english

File:

PDF, 466 KB

english, 2000

52

Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene

Jörg Klepper, Ingrid Monden, Elena Guertsen, Thomas Voit, Michèl Willemsen, Konrad Keller

Journal:

Year:

2001

Language:

english

File:

PDF, 250 KB

english, 2001

53

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

54

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

55

eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs

Marjo S. van der Knaap, Carola G.M. van Berkel, Jochen Herms, Rudy van Coster, Martina Baethmann, Sakkubai Naidu, Eugen Boltshauser, Michèl A.A.P. Willemsen, Barbara Plecko, Georg F. Hoffmann, Christo

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.81 MB

english, 2003

56

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

57

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

58

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

Janneke H.M. Schuurs-Hoeijmakers, Edwin C. Oh, Lisenka E.L.M. Vissers, Mariëlle E.M. Swinkels, Christian Gilissen, Michèl A. Willemsen, Maureen Holvoet, Marloes Steehouwer, Joris A. Veltman, Bert B.A.

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 626 KB

english, 2012

59

Defective metabolism of Leukotriene B4 in the Sjögren–Larsson Syndrome

Michèl A.A.P Willemsen, Jan J Rotteveel, Jan G.N de Jong, Ronald J.A Wanders, Lodewijk IJlst, Georg F Hoffmann, Ertan Mayatepek

Journal:

Journal of the Neurological Sciences

Year:

2001

Language:

english

File:

PDF, 113 KB

english, 2001

60

The association of alcohol intake with gamma-glutamyl transferase (GGT) levels: Evidence for correlated genetic effects

van Beek, Jenny H.D.A., de Moor, Marleen H.M., Geels, Lot M., Sinke, Michel R.T., de Geus, Eco J.C., Lubke, Gitta H., Kluft, Cornelis, Neuteboom, Jacoline, Vink, Jacqueline M., Willemsen, Gonneke, Boo

Journal:

Drug and Alcohol Dependence

Year:

2014

Language:

english

File:

PDF, 511 KB

english, 2014

61

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

62

Cerebral lipid accumulation in Chanarin–Dorfman Syndrome

Huigen, Marleen C.D.G., van der Graaf, Marinette, Morava, Eva, Dassel, A. Carin M., van Steensel, Maurice A.M., Seyger, Marieke M.B., Wevers, Ron A., Willemsen, Michèl A.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 619 KB

english, 2015

63

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

64

Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency

Zulfiqar, Maria, Lin, Doris D.M., Van der Graaf, Marinette, Barker, Peter B., Fahrner, Jill A., Marie, Sandrine, Morava, Eva, De Boer, Lonneke, Willemsen, Michel A.A.P., Vining, Eileen, Horská, Alena,

Journal:

Journal of Magnetic Resonance Imaging

Year:

2013

Language:

english

File:

PDF, 409 KB

english, 2013

65

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

66

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

67

Multimodal imaging of the macula in hereditary and acquired lack of macular pigment

Theelen, Thomas, Berendschot, Tos T. J. M., Klevering, B. Jeroen, Fuijkschot, Joris, Hoyng, Carel B., Willemsen, Michèl A. A. P.

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2014

Language:

english

File:

PDF, 299 KB

english, 2014

68

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

69

Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment

van Egmond, Martje E., Elting, Jan Willem J., Kuiper, Anouk, Zutt, Rodi, Heineman, Kirsten R., Brouwer, Oebele F., Sival, Deborah A., Willemsen, Michel A., Tijssen, Marina A.J., de Koning, Tom J.

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 612 KB

english, 2015

70

Cerebellar Disorders in Children. Clinics in Developmental Medicine No. 191-192

Willemsen, Michèl

Journal:

Neuropediatrics

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

71

Toll-like receptor-mediated adjuvanticity and immunomodulation in dendritic cells: Implications for peptide vaccines

Mitchell, Daniel, Yong, Michelle, Raju, Jyothy, Willemsen, Nicole, Black, Matthew, Trent, Amanda, Tirrell, Matthew, Olive, Colleen

Journal:

Year:

2011

Language:

english

File:

PDF, 609 KB

english, 2011

72

Clinical Outcome of Cloacal Exstrophy, Current Status, and a Change in Surgical Management

Vliet, Rob, Roelofs, Luc, Rassouli-Kirchmeier, Roxana, de Gier, Robert, Claahsen-van der Grinten, Hedi, Verhaak, Chris, Hosman, Allard, Beerendonk, Catharina, van Lindert, Erik, Willemsen, Michel, Wij

Journal:

European Journal of Pediatric Surgery

Year:

2014

Language:

english

File:

PDF, 113 KB

english, 2014

73

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

74

Childhood White Matter Disorders: Quantitative MR Imaging and Spectroscopy 1

van der Voorn, J. Patrick, Pouwels, Petra J. W., Hart, Augustinus A. M., Serrarens, Judith, Willemsen, Michèl A. A. P., Kremer, Hubertus P. H., Barkhof, Frederik, van der Knaap, Marjo S.

Journal:

Year:

2006

Language:

english

File:

PDF, 309 KB

english, 2006

75

Lactate and its many faces

Taher, Marjan, Leen, Wilhelmina G., Wevers, Ron A., Willemsen, Michèl A.

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 358 KB

english, 2015

76

SPIE Proceedings [SPIE SPIE Optical Systems Design - Jena, Germany (Monday 7 September 2015)] Optical Systems Design 2015: Advances in Optical Thin Films V - Direct in situ GDD measurement in optical coating process

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

Year:

2015

Language:

english

File:

PDF, 813 KB

english, 2015

77

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

78

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

79

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

80

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

Theelen, Thomas, Cruysberg, Johannes R. M., Willemsen, Michèl A. A. P.

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2016

Language:

english

File:

PDF, 264 KB

english, 2016

81

Serum inflammatory mediators correlate with disease activity in electrical status epilepticus in sleep (ESES) syndrome

van den Munckhof, Bart, de Vries, Evelien E., Braun, Kees P. J., Boss, H. Myrthe, Willemsen, Michèl A., van Royen-Kerkhof, Annet, de Jager, Wilco, Jansen, Floor E.

Journal:

Year:

2016

Language:

english

File:

PDF, 283 KB

english, 2016

82

Early onset dystonia and parkinsonism with abnormal globus pallidal signal in MRI: A diagnostic challenge

Post, Bart, van Belzen, Martine, Marcelis, Carlo, Meijer, Frederick J. A., Willemsen, Michel A., van de Warrenburg, Bart P.

Journal:

Movement Disorders

Year:

2013

Language:

english

File:

PDF, 208 KB

english, 2013

83

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

84

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

85

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

86

Pharmacokinetic modeling of [11C]flumazenil kinetics in the rat brain

Alves, Isadora Lopes, Vállez García, David, Parente, Andrea, Doorduin, Janine, Dierckx, Rudi, Marques da Silva, Ana Maria, Koole, Michel, Willemsen, Antoon, Boellaard, Ronald

Journal:

EJNMMI Research

Year:

2017

Language:

english

File:

PDF, 620 KB

english, 2017

87

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

88

Erratum to “Short communication: Genetic association between schizophrenia and cannabis use” [Drug Alcohol Depend. 171 (2017) 117–121]

Verweij, Karin J.H., Abdellaoui, Abdel, Nivard, Michel G., Cort, Alberto Sainz, 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, 172 KB

english, 2017

89

Ataxia-telangiectasia: recommendations for multidisciplinary treatment

van Os, Nienke J H, Haaxma, Charlotte A, van der Flier, Michiel, Merkus, Peter J F M, van Deuren, Marcel, de Groot, Imelda J M, Loeffen, Jan, van de Warrenburg, Bart P C, Willemsen, Michèl A A P

Journal:

Developmental Medicine & Child Neurology

Year:

2017

Language:

english

File:

PDF, 132 KB

english, 2017

90

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

91

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

Willemsen, Michèl

Journal:

Neuropediatrics

Year:

2017

Language:

english

File:

PDF, 54 KB

english, 2017

92

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

Staps, Pippa, Hogeveen, Marije, Fuijkschot, Joris, van Drongelen, Joris, Willemsen, Michèl A.A.P.

Journal:

Journal of Perinatal Medicine

Year:

2017

Language:

english

File:

PDF, 233 KB

english, 2017

93

Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome

Braakman, Hilde M H, Engelen, Marc, Nicolai, Joost, Willemsen, Michèl A A P

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2017

Language:

english

File:

PDF, 586 KB

english, 2017

94

PLGA nanoparticles loaded with beta-lactoglobulin-derived peptides modulate mucosal immunity and may facilitate cow's milk allergy prevention

Kostadinova, Atanaska I., Middelburg, Jim, Ciulla, Michele, Garssen, Johan, Hennink, Wim E., Knippels, Leon M.J., van Nostrum, Cornelus F., Willemsen, Linette E.M.

Journal:

European Journal of Pharmacology

Year:

2017

Language:

english

File:

PDF, 2.88 MB

english, 2017

95

Early health technology assessment of future clinical decision rule aided triage of patients presenting with acute chest pain in primary care

Willemsen, Robert T.A., Kip, Michelle M.A., Koffijberg, Hendrik, Kusters, Ron, Buntinx, Frank, Glatz, Jan F.C., Dinant, Geert Jan

Journal:

Primary Health Care Research & Development

Year:

2017

Language:

english

File:

PDF, 770 KB

english, 2017

96

Dystonia in childhood: Rising networks

Willemsen, Michèl A.

Journal:

European Journal of Paediatric Neurology

Year:

2018

Language:

english

File:

PDF, 248 KB

english, 2018

97

Correction to: Parametric Imaging of [11C]Flumazenil Binding in the Rat Brain

Lopes Alves, Isadora, Vállez García, David, Parente, Andrea, Doorduin, Janine, Marques da Silva, Ana Maria, Koole, Michel, Dierckx, Rudi, Willemsen, Antoon, Boellaard, Ronald

Journal:

Molecular Imaging and Biology

Year:

2018

Language:

english

File:

PDF, 316 KB

english, 2018

98

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

Maroofian, Reza, Riemersma, Moniek, Jae, Lucas T., Zhianabed, Narges, Willemsen, Marjolein H., Wissink-Lindhout, Willemijn M., Willemsen, Michèl A., de Brouwer, Arjan P. M., Mehrjardi, Mohammad Yahya

Journal:

Genome Medicine

Year:

2017

Language:

english

File:

PDF, 1.81 MB

english, 2017

99

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

100

Benign nocturnal alternating hemiplegia of childhood A clinical and nomenclatural reappraisal

Maas, Roderick P.P.W.M., Kamsteeg, Erik-Jan, Mangano, Salvatore, Vázquez López, María Esther, Nicolai, Joost, Silver, Kenneth, Fernández-Alvarez, Emilio, Willemsen, Michèl A.A.P.

Journal:

European Journal of Paediatric Neurology

Year:

2018

Language:

english

File:

PDF, 634 KB

english, 2018