Browsing by Author "Willemsen, Michaël Albertus Adrianus Petrus"

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

Beusichem, A.E. Van; Nicolai, J.; Verhoeven, J.; Speth, L.; Coenen, M.; Willemsen, M.A. ; Kamsteeg, E.J. ; Stumpel, C.; Vermeulen, R.J.

2020, Article / Letter to editor (Neuropediatrics, vol. 51, iss. 2, (2020), pp. 146-153)

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

Hengel, H.; Bosso-Lefevre, C.; Grady, G.; Szenker-Ravi, E.; Li, H.; Pierce, S.; Lebigot, E.; Tan, T.T.; Eio, M.Y.; Narayanan, G.; et al.

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2020, Article / Letter to editor (Nature Communications, vol. 11, iss. 1, (2020), article 595)

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

Samkar, A. van ; Leen, W.G. ; Willemsen, M.A.A.P. ; Verrips, A.

2020, Article / Letter to editor (Annals of Neurology, vol. 87, iss. 1, (2020), pp. 10-11)

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

Polet, Sjoukje S.; Anderson, David G.; Koens, Lisette H.; Egmond, Martje E. van; Drost, G. ; Brusse, Esther; Willemsen, M.A.A.P. ; Tijssen, Marina A. J.; Koning, Tom J. de

2020, Article / Letter to editor (Parkinsonism & Related Disorders, vol. 72, (2020), pp. 44-48)

Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated With NRAS Mutation

Richters, R.J.H. ; Seyger, M.M.B. ; Meeuwis, K.A.P. ; Rinne, T.K. ; Eijkelenboom, A.; Willemsen, M.A.

2020, Article / Letter to editor (Acta Dermato-Venereologica, vol. 100, iss. 8, (2020), pp. 1-2, article adv00103)

Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum

Staps, P. ; Gaalen, J. van ; Domburg, P. van; Steijlen, P.M.; Ferdinandusse, S.; Heijer, T.; Seyger, M.M.B. ; Theelen, T. ; Willemsen, M.A.A.P.

2020, Article / Letter to editor (Jimd Reports, vol. 53, iss. 1, (2020), pp. 61-70)

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

Os, N.J.H. van ; Deuren, M. van ; Weemaes, C.M.R. ; Gaalen, J. van ; Hijdra, H.J.M.; Taylor, A.M.; Warrenburg, B.P.C. van de ; Willemsen, M.A.A.P.

2020, Article / Letter to editor (Journal of Neurology, vol. 267, iss. 3, (2020), pp. 830-837)

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

Schoenaker, M.H.D. ; Blom, M; Vries, M.C. de ; Weemaes, C.M.R. ; Burg, M. van der; Willemsen, M.A.A.P.

2020, Article / Letter to editor (European Journal of Pediatrics, vol. 179, iss. 2, (2020), pp. 251-256)

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, M.J. ; Venselaar, H. ; Wiel, L.J.M. van de ; Trimouille, A.; Lasseaux, E.; Naudion, S.; Lacombe, D.; Piton, A.; Vincent-Delorme, C.; Zweier, C. ; et al.

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2020, Article / Letter to editor (Genetics in Medicine, vol. 22, iss. 4, (2020), pp. 797-802)

Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset

Wassenberg, T.; Schouten, M.I. ; Helmich, R.C.G. ; Willemsen, M.A.A.P. ; Kamsteeg, E.J. ; Warrenburg, B.P.C. van de

2020, Article / Letter to editor (Parkinsonism & Related Disorders, vol. 74, (2020), pp. 12-15)

Facilitators and Barriers to Wearing Hand Orthoses by Adults with Duchenne Muscular Dystrophy: A Mixed Methods Study Design

Houwen-van Opstal, S.L.; Elzen, Y. van den; Jansen, M. ; Willemsen, M.A.A.P. ; Cup, E.H.C. ; Groot, I.J.M. de

2020, Article / Letter to editor (Journal of Neuromuscular Diseases, vol. 7, iss. 4, (2020), pp. 467-475)

Confirmation of neurometabolic diagnoses using age-dependent cerebrospinal fluid metabolomic profiles

Peters, T.M.A. ; Engelke, U.F.H. ; Boer, S. de ; Heeft, E. van der ; Pritsch, C.; Kulkarni, P. ; Wevers, R.A. ; Willemsen, M.A.A.P. ; Verbeek, M.M. ; Coene, K.L.M.

2020, Article / Letter to editor (Journal of Inherited Metabolic Disease, vol. 43, iss. 5, (2020), pp. 1112-1120)

Failing Transmission

Willemsen, M.A.A.P.

2019, Article / Letter to editor (Neuropediatrics, vol. 50, iss. 1, (2019), pp. 1)

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity

Egmond, M.E. van; Contarino, M.F.; Lugtenberg, C.H.A.; Peall, K.J.; Brouwer, O.F.; Fung, V.S.C.; Roze, E.; Stewart, R.E.; Willemsen, M.A.A.P. ; Wolf, N.I.; et al.

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2019, Article / Letter to editor (Movement Disorders, vol. 34, iss. 3, (2019), pp. 317-320)

Failure of ketogenic diet therapy in GLUT1 deficiency syndrome

Bekker, Y.A.C.; Lambrechts, D.A.; Verhoeven, J.S.; Troost, C.; Kamsteeg, E.J. ; Willemsen, M.A.A.P. ; Braakman, H.M.

2019, Article / Letter to editor (European Journal of Paediatric Neurology, vol. 23, iss. 3, (2019), pp. 404-409)

A clinical diagnostic algorithm for early onset cerebellar ataxia

Brandsma, R.; Verschuuren-Bemelmans, C.C.; Amrom, D.; Barisic, N.; Baxter, P.; Bertini, E.; Willemsen, M.A.A.P. ; Boltshauser, E.; Sival, D.A.

2019, Article / Letter to editor (European Journal of Paediatric Neurology, vol. 23, iss. 54, (2019), pp. 692-706)

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

Tol, W. van ; Michelakakis, H.; Georgiadou, Elissavet; Bergh, Peter van den; Moraitou, Marina; Papadimas, George K.; Alsady, M. ; Willemsen, M.A. ; Lefeber, D.J.

2019, Article / Letter to editor (Journal of Inherited Metabolic Disease, vol. 42, iss. 5, (2019), pp. 984-992)

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

Tol, W. van ; Ashikov, A.M. ; Korsch, E.; AbuBakar, N. Bin ; Willemsen, M.A.A.P. ; Thiel, C; Lefeber, D.J.

2019, Article / Letter to editor (Jimd Reports, vol. 50, iss. 1, (2019), pp. 31-39)

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

Blom, Maartje; Schoenaker, M.H.D. ; Hulst, Myrthe; Vries, Martine C. de; Weemaes, C.M.R. ; Willemsen, M.A.A.P. ; Henneman, Lidewij; Burg, Mirjam van der

2019, Article / Letter to editor (Frontiers in Immunology, vol. 10, (2019), article 2438)

De novo SPAST mutations may cause a complex SPG4 phenotype

Schieving, J.H. ; Bot, S.T. de ; Pol, L.A. van de; Wolf, N.I.; Brilstra, E.H.; Frints, S.G.; Gaalen, J. van ; Misra-Isrie, M.; Pennings, M.; Verschuuren-Bemelmans, C.C.; et al.

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2019, Article / Letter to editor (Brain, vol. 142, iss. 7, (2019), pp. e31)

Effects of carrying a pathogenic variant in the tyrosine hydroxylase gene on motivated action and valuation: A pilot study in family members with tyrosine hydroxylase deficiency

Swart, J.C. ; Froböse, M.I. ; Wassenberg, T.; Ouden, H.E.M. den ; Willemsen, M.A.A.P. ; Cools, R.

2019, Part of book or chapter of book (To go or not to go? On motivational biases in decision making, pp. 23-43)

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

Os, N.J.H. van ; Chessa, Luciana; Weemaes, C.M.R. ; Deuren, M. van ; Fievet, Alice; Gaalen, J. van ; Roeleveld, N. ; Warrenburg, B.P.C. van de ; Doerk, Thilo; Willemsen, M.A.A.P.

2019, Article / Letter to editor (Journal of Medical Genetics, vol. 56, iss. 5, (2019), pp. 308-316)

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

Schon, Katherine; Os, N.J.H. van ; Oscroft, Nicholas; Baxendale, Helen; Scoffings, Daniel; Ray, Julian; Warrenburg, B.P.C. van de ; Weemaes, C.M.R. ; Willemsen, M.A. ; Taylor, A.M.; et al.

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2019, Article / Letter to editor (Annals of Neurology, vol. 85, iss. 2, (2019), pp. 170-180)

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

Staps, P. ; Cruysberg, J.R.M. ; Roeleveld, N. ; Willemsen, M.A.A.P. ; Theelen, T.

2019, Article / Letter to editor (Ophthalmology Retina, vol. 3, iss. 6, (2019), pp. 500-509)

A Tanzanian Boy With Molecularly Confirmed X-Linked Adrenoleukodystrophy

Dekker, M.C.J. ; Sadiq, A.M.; Larty, R. Mc; Mbwasi, R.M.; Willemsen, M.A.A.P. ; Waterham, H.R.; Hamel, B.C.J.

2019, Article / Letter to editor (Case Reports in Genetics, vol. 2019, (2019), pp. 1, article 6148425)

Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia

Os, N.J.H. van ; Hensiek, A.; Gaalen, J. van ; Taylor, A.M.; Deuren, M. van ; Weemaes, C.M.R. ; Willemsen, M.A.A.P. ; Warrenburg, B.P.C. van de

2019, Article / Letter to editor (Neurology, vol. 92, iss. 1, (2019), pp. e19-e29)

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

Karnebeek, C.D. van ; Ramos, R.J.; Wen, X.Y.; Tarailo-Graovac, M.; Gleeson, Joseph G.; Skrypnyk, C.; Kluijtmans, L.A.J. ; Willemsen, M.A.A.P. ; Rodenburg, R.J. ; Huigen, M. ; et al.

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2019, Article / Letter to editor (American Journal of Human Genetics, vol. 105, iss. 3, (2019), pp. 534-548)

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

Staps, P. ; Groot, I.J.M. de ; Gerven, M.H.J.C van ; Willemsen, M.A.A.P.

2019, Article / Letter to editor (Neuropediatrics, vol. 50, iss. 2, (2019), pp. 89-95)

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

Tol, W. van ; Scherpenzeel, M. van ; Alsady, M. ; Riemersma, M. ; Hermans, E. ; Kragt, E.; Tasca, G.; Kamsteeg, E.J. ; Pennings, M.; Beusekom, E. van ; et al.

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2019, Article / Letter to editor (Clinical Chemistry, vol. 65, iss. 10, (2019), pp. 1295-1306)

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

Draaisma, J.M.T. ; Hampsink, Brieke M.; Janssen, M.J.R. ; Houdt, Nicole B.M. van; Linders, E.T.A.M.; Willemsen, M.A.

2019, Article / Letter to editor (Neuropediatrics, vol. 50, iss. 6, (2019), pp. 353-358)

Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome

Braakman, H.M.; Engelen, M.; Nicolai, J.; Willemsen, M.A.A.P.

2018, Article / Letter to editor (Journal of Neurology, Neurosurgery, and Psychiatry, vol. 89, iss. 6, (2018), pp. 668-670)

Dystonia in childhood: Rising networks

Willemsen, M.A.A.P.

2018, Article / Letter to editor (European Journal of Paediatric Neurology, vol. 22, iss. 2, (2018), pp. 219-220)

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

Mol, C.L. de; Wong, Y.Y.M.; Pelt, E.D. van; Ketelslegers, I.A.; Bakker, D.P.; Boon, M.; Engelen, M.; Haaxma, C.A. ; Willemsen, M.A.A.P. ; Hintzen, R.Q.; et al.

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2018, Article / Letter to editor (Journal of Neurology, vol. 265, iss. 6, (2018), pp. 1310-1319)

A brother and sister with intellectual disability and characteristic neuroimaging findings

Hermens, M.; Knaap, M.S. van der; Kamsteeg, E.J. ; Willemsen, M.A.A.P.

2018, Article / Letter to editor (European Journal of Paediatric Neurology, vol. 22, iss. 5, (2018), pp. 866-869)

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

Maas, R.P.P.W.M. ; Warrenburg, B.P.C. van de ; Willemsen, M.A.A.P.

2018, Article / Letter to editor (Neurology, vol. 90, iss. 1, (2018), article 47)

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

Maas, R.P.P.W.M. ; Kamsteeg, E.J. ; Mangano, S.; Lopez, M.E. Vazquez; Nicolai, J.; Silver, K.; Fernandez-Alvarez, E.; Willemsen, M.A.A.P.

2018, Article / Letter to editor (European Journal of Paediatric Neurology, vol. 22, iss. 6, (2018), pp. 1110-1117)

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

Schoenaker, M.H.D. ; Os, N.J.H. van ; Flier, M. van der ; Deuren, M. van ; Seyger, M.M.B. ; Taylor, A.M.R.; Weemaes, C.M.R. ; Willemsen, M.A.A.P.

2018, Article / Letter to editor (European Journal of Medical Genetics, vol. 61, iss. 5, (2018), pp. 284-287)

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

Staps, P. ; Hogeveen, M. ; Fuijkschot, J. ; Drongelen, J. van ; Willemsen, M.A.A.P.

2018, Article / Letter to editor (Journal of Perinatal Medicine, vol. 46, iss. 5, (2018), pp. 523-529)

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Wassenberg, T.; Molero-Luis, M.; Jeltsch, K.; Hoffmann, G.F.; Assmann, B.; Blau, N.; Garcia-Cazorla, A.; Artuch, R.; Pons, R.; Pearson, T.S.; et al.

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2017, Article / Letter to editor (Orphanet Journal of Rare Diseases, vol. 12, iss. 1, (2017), pp. 12)

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

Willemsen, M.A.A.P.

2017, Article / Letter to editor (Neuropediatrics, vol. 48, iss. 5, (2017), pp. 327-328)

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

Wassenberg, T.; Willemsen, M.A. ; Dijkman, H.B. ; Deinum, J. ; Monnens, L.A.

2017, Article / Letter to editor (Pediatric Nephrology, vol. 32, iss. 7, (2017), pp. 1171-1174)

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

Wassenberg, T.; Willemsen, M.A. ; Dijkman, H.B. ; Deinum, J. ; Monnens, L.A.

2017, Article / Letter to editor (Pediatric Nephrology, vol. 32, iss. 7, (2017), pp. 1169-1170)

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

Meyer, E.; Carss, K.J.; Rankin, J.; Nichols, J.M.; Grozeva, D.; Joseph, A.P.; Mencacci, N.E.; Papandreou, A.; Ng, J.; Barral, S.; et al.

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2017, Article / Letter to editor (Nature Genetics, vol. 49, iss. 2, (2017), pp. 223-237)

l-Dopa in dystonia: A modern perspective

Maas, R.P.P.W.M. ; Wassenberg, T.; Lin, J.P.; Warrenburg, B.P.C. van de ; Willemsen, M.A.A.P.

2017, Article / Letter to editor (Neurology, vol. 88, iss. 19, (2017), pp. 1865-1871)

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

Warrenburg, B.P.C. van de ; Schouten, M.I. ; Bot, S.T. de; Vermeer, S.; Meijer, R.; Pennings, M.; Gilissen, C.; Willemsen, M.A.A.P. ; Scheffer, H. ; Kamsteeg, E.J.

2017, Article / Letter to editor (European Journal of Human Genetics, vol. 25, iss. 3, (2017), pp. 393)

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

Engen-van Grunsven, A.C.H. van ; Rabold, K. ; Kusters-vandevelde, H.V.; Rijntjes, J. ; Djafarihamedani, M.; Hehir-Kwa, J.Y. ; Kusters, B. ; Willemsen, M.A.A.P. ; Burgt, I. van der ; Wesseling, P. ; et al.

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2017, Article / Letter to editor (Acta Neuropathologica, vol. 133, iss. 2, (2017), pp. 333-335)

Telangiectasias: Small lesions referring to serious disorders

Schieving, J.H. ; Schoenaker, M.H.D.; Weemaes, C.M.R. ; Deuren, M. van ; Flier, M. van der ; Seyger, M.M.B. ; Willemsen, M.A.A.P.

2017, Article / Letter to editor (European Journal of Paediatric Neurology, vol. 21, iss. 6, (2017), pp. 807-815)

Ataxia-telangiectasia: recommendations for multidisciplinary treatment

Os, N.J.H. van ; Haaxma, C.A. ; Flier, M. van der ; Merkus, P.J.F.M. ; Deuren, M. van ; Groot, I.J.M. de ; Loeffen, J.L. ; Warrenburg, B.P.C. van de ; Willemsen, M.A.A.P.

2017, Article / Letter to editor (Developmental Medicine and Child Neurology, vol. 59, iss. 7, (2017), pp. 680-689)

Ataxia-telangiectasia: Immunodeficiency and survival

Os, N.J.H. van ; Jansen, A.F.M. ; Deuren, M. van ; Haraldsson, A.; Driel, N.T.M. van; Etzioni, A.; Flier, M. van der ; Haaxma, C.A. ; Morio, T.; Rawat, A.; et al.

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2017, Article / Letter to editor (Clinical Immunology, vol. 178, (2017), pp. 45-55)

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

Vissers, L.E.L.M. ; Nimwegen, K.J.M. van; Schieving, J.H. ; Kamsteeg, E.J. ; Kleefstra, T. ; Yntema, H.G. ; Pfundt, R.P. ; Wilt, G.J. van der ; Krabbenborg, L.; Brunner, H.G. ; et al.

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2017, Article / Letter to editor (Genetics in Medicine, vol. 19, iss. 9, (2017), pp. 1055-1063)

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