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Bwee Tien Poll‐The

University College London

61H-index
479Paper Count
1.4WCitation Count
Published Papers 84
Publication Date
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
err2024-09-23
err0
errOAAI
errKlouwer, Femke C. C.; Roosendaal, Stefan D.; Hollak, Carla E. M.; Langeveld, Mirjam; Poll-The, Bwee Tien; van Sorge, Arlette J.; Wolf, Nicole I.; van der Knaap, Marjo S.; Engelen, Marc
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
err2020-10-01
err32
errOAAI
errPelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M. L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando, I; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P.; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard, I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S.; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole, I; Bernard, Genevieve
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Disease progression in women with X-linked adrenoleukodystrophy is slow
err2019-02-07
err64
errOAAI
errHuffnagel, Irene C.; Dijkgraaf, Marcel G. W.; Janssens, Georges E.; van Weeghel, Michel; van Geel, Bjorn M.; Poll-The, Bwee Tien; Kemp, Stephan; Engelen, Marc
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Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
err2018-08-08
err31
errOAAI
errvan Dijk, Tessa; Ferdinandusse, Sacha; Ruiter, Jos P. N.; Alders, Marielle; Mathijssen, Inge B.; Parboosingh, Jillian S.; Innes, A. Micheil; Meijers-Heijboer, Hanne; Poll-The, Bwee Tien; Bernier, Francois P.; Wanders, Ronald J. A.; Lamont, Ryan E.; Baas, Frank
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What's new in pontocerebellar hypoplasia? An update on genes and subtypes
err2018-06-15
err106
errOAAI
errvan Dijk, Tessa; Baas, Frank; Barth, Peter G.; Poll-The, Bwee Tien
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Non-motor symptoms and quality of life in dopa-responsive dystonia patients
err2017-12-01
err18
errOAAI
errTimmers, E. R.; Kuiper, A.; Smit, M.; Bartels, A. L.; Kamphuis, D. J.; Wolf, N. I.; Poll-The, B. T.; Wassenberg, T.; Peeters, E. A. J.; de Koning, T. J.; Tijssen, M. A. J.
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A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy
errBRAIN
IF11.7
err2017-11-29
err0
errOAAI
errSimons, Cas; Dyment, David; Bent, Stephen J.; Crawford, Joanna; D'Hooghe, Marc; Kohlschuetter, Alfried; Venkateswaran, Sunita; Helman, Guy; Poll-The, Bwee-Tien; Makowski, Christine C.; Ito, Yoko; Kernohan, Kristin; Hartley, Taila; Waisfisz, Quinten; Taft, Ryan J.; van der Knaap, Marjo S.; Wolf, Nicole I.
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Brain atrophy following hemiplegic migraine attacks
err2017-07-27
err16
errOAAI
errPelzer, Nadine; Hoogeveen, Evelien S.; Ferrari, Michel D.; Poll-The, Bwee Tien; Kruit, Mark C.; Terwindt, Gisela M.
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The Structural Connectome of Children With Traumatic Brain Injury
err2017-04-21
err32
errOAAI
errKonigs, Marsh; van Heurn, L. W. Ernest; Bakx, Roel; Vermeulen, R. Jeroen; Goslings, J. Carel; Poll-The, Bwee Tien; van der Wees, Marleen; Catsman-Berrevoets, Coriene E.; Oosterlaan, Jaap; Pouwels, Petra J. W.
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Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
err2016-06-01
err101
errOAAI
errvan Karnebeek, Clara D. M.; Tiebout, Sylvia A.; Niermeijer, Jikkemien; Poll-The, Bwee Tien; Ghani, Aisha; Coughlin, Curtis R., II; Van Hove, Johan L. K.; Richter, Jost Wigand; Christen, Hans Juergen; Gallagher, Renata; Hartmann, Hans; Stoclder-Ipsiroglu, Sylvia
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Diffuse hypomyelination is not obligate for POLR3-related disorders
err2016-04-26
err63
errOAAI
errLa Piana, Roberta; Cayami, Ferdy K.; Tran, Luan T.; Guerrero, Kether; van Spaendonk, Rosalina; Ounap, Katrin; Pajusalu, Sander; Haack, Tobias; Wassmer, Evangeline; Timmann, Dagmar; Mierzewska, Hanna; Poll-The, Bwee T.; Patel, Chirag; Cox, Helen; Atik, Tahir; Onay, Huseyin; Ozkinay, Ferda; Vanderver, Adeline; van der Knaap, Marjo S.; Wolf, Nicole I.; Bernard, Genevieve
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Feedback learning and behavior problems after pediatric traumatic brain injury
err2016-03-08
err3
PREAI
errKonigs, M.; van Heurn, L. W. E.; Vermeulen, R. J.; Goslings, J. C.; Luitse, J. S. K.; Poll-The, B. T.; Beelen, A.; van der Wees, M.; Kemps, R. J. J. K.; Catsman-Berrevoets, C. E.; Luman, M.; Oosterlaan, J.
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Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks
err2016-01-25
err12
errOAAI
errHollak, Carla E. M.; Biegstraaten, Marieke; Baumgartner, Matthias R.; Belmatoug, Nadia; Bembi, Bruno; Bosch, Annet; Brouwers, Martijn; Dekker, Hanka; Dobbelaere, Dries; Engelen, Marc; Groenendijk, Marike C.; Lachmann, Robin; Langendonk, Janneke G.; Langeveld, Mirjam; Linthorst, Gabor; Morava, Eva; Poll-The, Bwee Tien; Rahman, Shamima; Rubio-Gozalbo, M. Estela; Spiekerkoetter, Ute; Treacy, Eileen; Wanders, Ronald; Zschocke, Johannes; Hagendijk, Rob
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Zellweger spectrum disorders: clinical overview and management approach
err2015-12-01
err162
errOAAI
errKlouwer, Femke C. C.; Berendse, Kevin; Ferdinandusse, Sacha; Wanders, Ronald J. A.; Engelen, Marc; Poll-The, Bwee Tien
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Pediatric Traumatic Brain Injury and Attention Deficit
err2015-09-01
err42
errOAAI
errKonigs, Marsh; Heij, Hugo A.; van der Sluijs, Johannes A.; Vermeulen, Jeroen; Goslings, J. Carel; Luitse, Jan S. K.; Poll-The, Bwee Tien; Beelen, Anita; van der Wees, Marleen; Kemps, Rachel J. J. K.; Catsman-Berrevoets, Coriene E.; Oosterlaan, Jaap
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'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes
err2015-08-12
err26
PREAI
errBramswig, Nuria C.; Ockeloen, C. W.; Czeschik, J. C.; van Essen, A. J.; Pfundt, R.; Smeitink, J.; Poll-The, B. T.; Engels, H.; Strom, T. M.; Wieczorek, D.; Kleefstra, T.; Ludecke, H. -J.
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Clinical utility gene card for: Zellweger syndrome spectrum
err2014-11-19
err4
errOAAI
errRosewich, Hendrik; Waterham, Hans; Poll-The, Bwee Tien; Ohlenbusch, Andreas; Gaertner, Jutta
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High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders
err2014-09-02
err32
errOAAI
errBerendse, Kevin; Engelen, Marc; Linthorst, Gabor E.; van Trotsenburg, A. S. Paul; Poll-The, Bwee Tien
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Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy
errBRAIN
IF11.7
err2014-08-22
err0
errOAAI
errEngelen, Marc; Barbier, Mathieu; Dijkstra, Inge M. E.; Schur, Remmelt; de Bie, Rob M.; Verhamme, Camiel; Dijkgraaf, Marcel G. W.; Aubourg, Patrick A.; Wanders, Ronald J. A.; van Geel, Bjorn M.; de Visser, Marianne; Poll-The, Bwee T.; Kemp, Stephan
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Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures
err2014-03-01
err35
PREAI
errde Roo, Marieke G. A.; Abeling, Nico G. G. M.; Majoie, Charles B.; Bosch, Annet M.; Koelman, Johannes H. T. M.; Cobben, Jan M.; Duran, Marinus; Poll-The, Bwee Tien
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