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

por Besouw, Martine T. P., Levtchenko, Elena N., Willemsen, Michèl A. A. P., Noordam, Kees
Publicado 2007

Clinical practice: Swallowing problems in cerebral palsy

por Erasmus, Corrie E., van Hulst, Karen, Rotteveel, Jan J., Willemsen, Michel A. A. P., Jongerius, Peter H.
Publicado 2011

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

por Blom, Maartje, Schoenaker, Michiel H. D., Hulst, Myrthe, de Vries, Martine C., Weemaes, Corry M. R., Willemsen, Michèl A. A. P., Henneman, Lidewij, van der Burg, Mirjam
Publicado 2019

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

por Staps, Pippa, van Gaalen, Judith, van Domburg, Peter., Steijlen, Peter M., Ferdinandusse, Sacha, den Heijer, Tom, Seyger, Marieke M. B., Theelen, Thomas, Willemsen, Michèl A. A. P.
Publicado 2020

Dysarthria in children and adults with ataxia telangiectasia

por Veenhuis, Stefanie J G, van OS, Nienke J H, van Gerven, Marjo H J C, van Haaften, Leenke, Mulder, Elisabeth H, Weemaes, Corry M R, Willemsen, Michèl A A P
Publicado 2021

Multisensory Stimulation and Priming (MuSSAP) in 4-10 Months Old Infants with a Unilateral Brain Lesion: A Pilot Randomised Clinical Trial

por Verhaegh, Anke P. M., Groen, Brenda E., Aarts, Pauline B. M., van Ee, Raymond, Willemsen, Michèl A. A. P., Jongsma, Marijtje L. A., Nijhuis-van der Sanden, Maria W. G.
Publicado 2023

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

por 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.
Publicado 2019

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

por Bisello, Giovanni, Kusmierska, Katarzyna, Verbeek, Marcel M., Sykut–Cegielska, Jolanta, Willemsen, Michèl A. A. P., Wevers, Ron A., Szymańska, Krystyna, Poznanski, Jarosław, Drozak, Jakub, Wertheim–Tysarowska, Katarzyna, Rygiel, Agnieszka Magdalena, Bertoldi, Mariarita
Publicado 2022

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

por Peters, Tessa M. A., Engelke, Udo F. H., de Boer, Siebolt, van der Heeft, Ed, Pritsch, Cynthia, Kulkarni, Purva, Wevers, Ron A., Willemsen, Michèl A. A. P., Verbeek, Marcel M., Coene, Karlien L. M.
Publicado 2020

Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants

por Peters, Tessa M. A., Lammerts van Bueren, Irma, Geurtz, Ben P.B.H., Coene, Karlien L. M., de Leeuw, Nicole, Brunner, Han G., Jónsson, Jón J., Willemsen, Michèl A. A. P., Wevers, Ron A., Verbeek, Marcel M.
Publicado 2020

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

por Houwen‐van Opstal, Saskia L. S., Heutinck, Lotte, Jansen, Merel, Krom, Yvonne D., Cup, Edith H. C., Hendriksen, Jos G. M., Willemsen, Michel A. A. P., Verschuuren, Jan J. G. M., Niks, Erik H., de Groot, Imelda J. M.
Publicado 2021

The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder

por Tiemens, Dagmar K., Kleimeier, Lotte, Leenders, Erika, Wingbermühle, Ellen, Roelofs, Renee L., Sibbles, Barbara, Oostwegel, Floor S.M., Vroonland, Eva, van Leeuwen, Conny, Niessen, Hanneke, Sonnega, Paul, Duursma, Anniek, Willemsen, Michel A. A. P., Draaisma, Jos M. T., Pittens, Carina A.C.M.
Publicado 2023

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

por Vissers, Lisenka E.L.M., van Nimwegen, Kirsten J.M., Schieving, Jolanda H., Kamsteeg, Erik-Jan, Kleefstra, Tjitske, Yntema, Helger G., Pfundt, Rolph, van der Wilt, Gert Jan, Krabbenborg, Lotte, Brunner, Han G., van der Burg, Simone, Grutters, Janneke, Veltman, Joris A., Willemsen, Michèl A.A.P.
Publicado 2017

Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome

por Staps, Pippa, Rizzo, William B., Vaz, Frédéric M., Bugiani, Marianna, Giera, Martin, Heijs, Bram, van Kampen, Antoine H. C., Pras‐Raves, Mia L., Breur, Marjolein, Groen, Annemieke, Ferdinandusse, Sacha, van der Graaf, Marinette, Van Goethem, Gert, Lammens, Martin, Wevers, Ron A., Willemsen, Michèl A. A. P.
Publicado 2020

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

por Schobers, Gaby, Schieving, Jolanda H., Yntema, Helger G., Pennings, Maartje, Pfundt, Rolph, Derks, Ronny, Hofste, Tom, de Wijs, Ilse, Wieskamp, Nienke, van den Heuvel, Simone, Galbany, Jordi Corominas, Gilissen, Christian, Nelen, Marcel, Brunner, Han G., Kleefstra, Tjitske, Kamsteeg, Erik-Jan, Willemsen, Michèl A. A. P., Vissers, Lisenka E. L. M.
Publicado 2022

Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism

por van Outersterp, Rianne E., Kooijman, Pieter C., Merx, Jona, Engelke, Udo F.H., Omidikia, Nematollah, Tonneijck, Mei-Lan H., Houthuijs, Kas J., Berden, Giel, Peters, Tessa M.A., Lefeber, Dirk J., Willemsen, Michel A. A. P., Mecinovic, Jasmin, Jansen, Jeroen J., Coene, Karlien L.M., Wevers, Ron A., Boltje, Thomas J., Oomens, Jos, Martens, Jonathan
Publicado 2023

Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia

por Veenhuis, Stefanie J.G., van Os, Nienke J.H., Janssen, Anjo J.W.M., van Gerven, Marjo H.J.C., Coene, Karlien L.M., Engelke, Udo. F.H., Wevers, Ron A., Tinnevelt, Gerjen H., ter Heine, Rob, van de Warrenburg, Bart P.C., Weemaes, Corry M.R., Roeleveld, Nel, Willemsen, Michèl A.A.P.
Publicado 2021

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

por Peters, Tessa M. A., Merx, Jona, Kooijman, Pieter C., Noga, Marek, de Boer, Siebolt, van Gemert, Loes A., Salden, Guido, Engelke, Udo F. H., Lefeber, Dirk J., van Outersterp, Rianne E., Berden, Giel, Boltje, Thomas J., Artuch, Rafael, Pías‐Peleteiro, Leticia, García‐Cazorla, Ángeles, Barić, Ivo, Thöny, Beat, Oomens, Jos, Martens, Jonathan, Wevers, Ron A., Verbeek, Marcel M., Coene, Karlien L. M., Willemsen, Michèl A. A. P.
Publicado 2022

How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

por Wortmann, Saskia B., Oud, Machteld M., Alders, Mariëlle, Coene, Karlien L. M., van der Crabben, Saskia N., Feichtinger, René G., Garanto, Alejandro, Hoischen, Alex, Langeveld, Mirjam, Lefeber, Dirk, Mayr, Johannes A., Ockeloen, Charlotte W., Prokisch, Holger, Rodenburg, Richard, Waterham, Hans R., Wevers, Ron A., van de Warrenburg, Bart P. C., Willemsen, Michel A. A. P., Wolf, Nicole I., Vissers, Lisenka E. L. M., van Karnebeek, Clara D. M.
Publicado 2022

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

por 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 H., Ng, Joanne, Meyer, Esther, Veneziano, Liana, Giunti, Paola, Hughes, Deborah, Raymond, F. Lucy, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Barzaghi, Chiara, Garavaglia, Barbara, Salpietro, Vincenzo, Hardy, John, Pittman, Alan M., Houlden, Henry, Kurian, Manju A., Kimura, Haruhide, Vissers, Lisenka E.L.M., Wood, Nicholas W., Bhatia, Kailash P.
Publicado 2016