M. Willemsen

发表

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

Hagai Bergman, Dagmar Wieczorek, Zvi Israel, 2016, Nature Genetics.

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

R. Pfundt, Adam Claridge‐Chang, B. Venkatesh, 2020, Nature Communications.

Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

B. P. Warrenburg, C. Haaxma, M. Deuren, 2017, Developmental medicine and child neurology.

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2013, Journal of Medical Genetics.

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

B. V. van Bon, L. Vissers, B. D. de Vries, 2012, Journal of Medical Genetics.

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

L. Vissers, J. Schuurs-Hoeijmakers, B. D. de Vries, 2012, American journal of human genetics.

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

L. Vissers, J. Veltman, T. Kleefstra, 2016, Journal of Genetic Counseling.

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

A. Taylor, M. van Deuren, M. Willemsen, 2017, European journal of medical genetics.

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

C. Gilissen, S. de Bot, B. P. Van de Warrenburg, 2016, European Journal of Human Genetics.

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity

V. Fung, M. Contarino, M. Tijssen, 2019, Movement disorders : official journal of the Movement Disorder Society.

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

L. Vissers, R. Pfundt, M. Nelen, 2022, Genome medicine.

A spinal intradural enterogenous cyst with well-differentiated muscularis propria

T. Beems, H. T. ten Donkelaar, P. Wesseling, 2002, Acta Neuropathologica.

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

G. Drost, J. D. de Vries, M. Tijssen, 2020, Parkinsonism & related disorders.

A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood

M. Ferrari, J. Duncan, H. Scheffer, 2015, Cephalalgia : an international journal of headache.

Clinical spectrum of ataxia-telangiectasia in adulthood

W. F. Abdo, L. V. van't Veer, A. Broeks, 2009, Neurology.

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

B. V. van Bon, J. Veltman, M. Verbeek, 2017, European Journal of Human Genetics.

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

E. Kamsteeg, M. Willemsen, J. Nicolai, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

J. Gécz, B. Bloem, S. Berkovic, 2013, Brain : a journal of neurology.

Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs

J. Veltman, T. Kleefstra, M. Willemsen, 2016, Clinical genetics.

Childhood white matter disorders: quantitative MR imaging and spectroscopy.

A. Hart, F. Barkhof, P. Pouwels, 2006, Radiology.

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

B. P. Van de Warrenburg, M. van Deuren, M. Willemsen, 2019, Journal of Neurology.

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures

M. Willemsen, L. Bok, C. Jakobs, 2010, European Journal of Pediatrics.

Considerations for radiotherapy in Bloom Syndrome: A case series.

M. van der Burg, J. Kaanders, M. van Deuren, 2021, European journal of medical genetics.

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

R. Lachmann, M. Kroos, T. Derks, 2016, Orphanet Journal of Rare Diseases.

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

M. Willemsen, I. D. de Groot, M. van Gerven, 2019, Neuropediatrics.

Long‐term outcome in pyridoxine‐dependent epilepsy

S. Houterman, R. Wevers, J. H. van der Hoeven, 2012, Developmental medicine and child neurology.

Child Neurology: Hereditary spastic paraplegia in children

B. P. Van de Warrenburg, M. Willemsen, S. D. de Bot, 2010, Neurology.

Neuroimaging in nine patients with inversion duplication of the short arm of chromosome 8.

I. Feenstra, M. S. van der Knaap, M. Willemsen, 2006, Neuropediatrics.

Neurofilament light chain: A novel blood biomarker in patients with ataxia telangiectasia.

M. Verbeek, B. P. Van de Warrenburg, M. Otto, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Homozygosity mapping in outbred families with mental retardation

J. Schuurs-Hoeijmakers, R. Pfundt, J. Hehir-Kwa, 2011, European Journal of Human Genetics.

Increased urinary leukotriene E4 during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome

E. Mayatepek, L. Dorland, M. Willemsen, 2001, Archives of disease in childhood.

Telangiectasias: Small lesions referring to serious disorders.

M. van Deuren, M. Willemsen, C. Weemaes, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

H. J. Schelhaas, B. P. Van de Warrenburg, H. Scheffer, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

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

T. Dörk, C. Schrader, B. P. Van de Warrenburg, 2019, Journal of Medical Genetics.

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

J. L. Yntema, B. Vries, M. Willemsen, 2005, European Journal of Pediatrics.

Failure of ketogenic diet therapy in GLUT1 deficiency syndrome.

J. Verhoeven, H. Braakman, E. Kamsteeg, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

M. Willemsen, 2017, Neuropediatrics.

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

L. Lagae, B. van Calster, F. Amant, 2012, The Lancet. Oncology.

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

L. Roelofs, C. Verhaak, M. Willemsen, 2014, European Journal of Pediatric Surgery.

Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation

E. Cup, M. Willemsen, Y. Krom, 2021, Muscle & nerve.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

M. Baumgartner, H. Omran, B. Weschke, 2006, Nature Medicine.

Callosal alterations in pyridoxine‐dependent epilepsy

S. Friedman, D. Shaw, S. Gospe, 2014, Developmental medicine and child neurology.

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

P. Clayton, M. Willemsen, L. Bok, 2007, Annals of neurology.

Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels

M. Willemsen, L. Bok, C. Jakobs, 2006, Archives of Disease in Childhood.

Novel EBP gene mutations in Conradi–Hünermann–Happle syndrome

P. Steijlen, M. Willemsen, M. Vreeburg, 2007, The British journal of dermatology.

Granulomatous vasculitis as a complication of potassium iodide treatment for Sweet's syndrome.

M. Willemsen, E. Eeckhout, G. Somers, 1987, Acta dermato-venereologica.

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.

B. Leavitt, E. van Wijk, M. Huigen, 2021, The Journal of clinical investigation.

Neuropathology in classical and variant ataxia‐telangiectasia

B. Kremer, M. van Deuren, M. Willemsen, 2012, Neuropathology : official journal of the Japanese Society of Neuropathology.

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

S. Houterman, M. Willemsen, L. Bok, 2012, Journal of Inherited Metabolic Disease.

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

N. Maurits, B. Poll-The, J. H. van der Hoeven, 2010, Epilepsia.

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia‐telangiectasia: A genotype–phenotype study

A. Broeks, N. Wulffraat, C. Catsman-Berrevoets, 2012, Human mutation.

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

H. Waterham, B. Hamel, M. Willemsen, 2019, Case reports in genetics.

Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline

A. Taylor, N. Roeleveld, G. Janssens, 2016, Clinical genetics.

Mutations in CLPB cause intellectual disability , congenital neutropenia , progressive brain atrophy , movement disorder , cataracts and 3-methylglutaconic aciduria Running title : CLPB defect

Arjan, T. Meitinger, H. Prokisch, 2014 .

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

Gert Jan van der Wilt, Janneke Grutters, Han G Brunner, 2017, Genetics in Medicine.

The diagnostic pathway in complex paediatric neurology: a cost analysis.

J. Veltman, M. Willemsen, G. J. van der Wilt, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Autosomal recessive cerebellar ataxias: the current state of affairs

B. Kremer, H. Scheffer, N. Knoers, 2011, Journal of Medical Genetics.

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

A. V. Vulto-van Silfhout, L. Vissers, J. Schuurs-Hoeijmakers, 2012, American journal of human genetics.

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours

D. Easton, P. Byrd, A. Taylor, 2011, British Journal of Cancer.

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

R. Pfundt, N. de Leeuw, B. D. de Vries, 2007, Developmental medicine and child neurology.

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations

H. Stroink, A. Kremer, M. Willemsen, 2012, neurogenetics.

Ataxia-telangiectasia: Immunodeficiency and survival.

A. Etzioni, T. Morio, N. Roeleveld, 2017, Clinical immunology.

Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia

M. van Deuren, M. Willemsen, C. Weemaes, 2018, Neurology.

Swallowing problems in cerebral palsy

J. Rotteveel, M. Willemsen, C. Erasmus, 2012 .

Clinical practice

J. Rotteveel, M. Willemsen, C. Erasmus, 2011, European Journal of Pediatrics.

The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.

M. van der Burg, G. Mancini, E. Kamsteeg, 2020, Pediatric neurology.

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

R. Pfundt, B. D. de Vries, C. Gilissen, 2021, European Journal of Medical Genetics.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

E. Bertini, G. Vasco, C. Catsman-Berrevoets, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

L. Vissers, J. Hardy, C. Davies, 2016, American journal of human genetics.

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

G. Rouleau, Eunjoon Kim, T. Kleefstra, 2015, Human mutation.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.

Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation

A. Eijkelenboom, T. Rinne, M. Willemsen, 2020, Acta dermato-venereologica.

Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia

L. Bottolo, P. Byrd, A. Taylor, 2018, Annals of neurology.

Hypoglycorrhachia: A simple clue, simply missed

M. Verbeek, M. Willemsen, T. Voit, 2001, Annals of neurology.

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

B. D. de Vries, F. Cremers, Daniëlle G. M. Bosch, 2014, BMC Ophthalmology.

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

R. Pfundt, B. D. de Vries, C. Gilissen, 2019, Genetics in Medicine.

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Ingeborg Krägeloh-Mann, Francesco Muntoni, Peter Nürnberg, 2008, Nature Genetics.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Christian Gilissen, Han G. Brunner, Michael F. Buckley, 2012, Nature Genetics.

Parental quality of life in complex paediatric neurologic disorders of unknown aetiology.

A. Donders, C. Verhaak, M. Willemsen, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

J. Verhoeven, L. Speth, C. Stumpel, 2019, Neuropediatrics.

S. Naidu, G. Scheper, C. Proud, 2003, American journal of human genetics.

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

J. Hehir-Kwa, P. Wesseling, B. Küsters, 2017, Acta Neuropathologica.

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

B. P. Warrenburg, F. Meijer, B. Post, 2013, Movement Disorders.

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

M. Willemsen, A. Verrips, A. Samkar, 2019 .

Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome

H. Braakman, M. Willemsen, J. Nicolai, 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

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

R. Pfundt, T. Brummelkamp, T. Kleefstra, 2017, Genome Medicine.

Novel mutations in three patients with LGMD2C with phenotypic differences.

B. Hamel, S. Vermeer, H. T. ter Laak, 2004, Pediatric neurology.

Subtelomeric chromosomal anomalies in infantile epileptic encephalopathies

R. Pfundt, B. D. de Vries, E. Sistermans, 2010, Journal of Pediatric Neurology.

Roth spots in pyridoxine dependent epilepsy

M. Willemsen, L. Bok, C. Jakobs, 2011, BMJ Case Reports.

MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy.

Arend Heerschap, F. Gabreëls, M. van der Graaf, 2004, AJNR. American journal of neuroradiology.

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

M. Janssen, B. Hampsink, M. Willemsen, 2019, Neuropediatrics.

De novo SPAST mutations may cause a complex SPG4 phenotype.

E. Brilstra, E. Kamsteeg, M. Willemsen, 2019, Brain : a journal of neurology.

Reviewing the genetic causes of spastic-ataxias

H. Kremer, S. Vermeer, M. Willemsen, 2012, Neurology.

Long‐term outcomes for females with early‐onset dystrophinopathy

E. Cup, H. V. van Duyvenvoorde, N. Voermans, 2022, Developmental medicine and child neurology.

[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease].

J. Smeitink, M. Willemsen, A. T. van der Ploeg, 1998, Nederlands tijdschrift voor geneeskunde.

Teaching NeuroImage: Bilateral Nucleus Tractus Solitarius Lesions in Neurogenic Respiratory Failure

S. Balasubramaniam, M. Willemsen, Bindu Parayil Sankaran, 2021, Neurology.

Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy

R. Taft, T. Kanda, T. Pippucci, 2022, Annals of neurology.

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF

I. Harting, P. Pouwels, U. Engelke, 2004, Neurology.

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

M. S. van der Knaap, E. Kamsteeg, M. Willemsen, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

D. Grozeva, H. Bergman, D. Arkadir, 2017, Nature Genetics.

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations

H. Stroink, A. Kremer, G. Mancini, 2013, neurogenetics.

Nocturnal apnea in Chiari type I malformation

Rene van Gent, M. Willemsen, L. Aarts, 2011, European Journal of Pediatrics.

Diagnosis and Management of Ataxia-Telangiectasia in Resource-Limited Settings

M. Willemsen, L. Silveira-Moriyama, C. Weemaes, 2020, Journal of the International Child Neurology Association.

Distal truncation of KCC3 in non–French Canadian HMSN/ACC families

M. Tekin, G. Rouleau, J. Rivière, 2007, Neurology.

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

M. Tijssen, J. Elting, D. Sival, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

M. van der Burg, M. Willemsen, C. Weemaes, 2019, European Journal of Pediatrics.

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

M. van der Burg, M. Willemsen, L. Henneman, 2019, Front. Immunol..

Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset.

R. Helmich, E. Kamsteeg, M. Willemsen, 2020, Parkinsonism & related disorders.

A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis

M. Willemsen, M. Jonkman, M. Bolling, 2009, The British journal of dermatology.

Cognitive and speech-language performance in children with ataxia telangiectasia

B. Maassen, M. Willemsen, I. D. de Groot, 2011, Developmental neurorehabilitation.

Little folks, little myelin, and little teeth

M. Willemsen, S. D'Arrigo, 2014, Neurology.