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Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.
Published in:
2020
By:
- Eidhof, Ilse;
- Baets, Jonathan;
- Kamsteeg, Erik-Jan;
- Schenck, Annette;
- Warrenburg, Bart P van de;
- van de Warrenburg, Bart P
Publication type:
Letter
De novo SPAST mutations may cause a complex SPG4 phenotype.
Published in:
2019
By:
- Schieving, Jolanda H;
- Bot, Susanne T de;
- Pol, Laura A van de;
- Wolf, Nicole I;
- Brilstra, Eva H;
- Frints, Suzanna G;
- Gaalen, Judith van;
- Misra-lsrie, Mala;
- Pennings, Maartje;
- Verschuuren-Bemelmans, Corien C;
- Kamsteeg, Erik-Jan;
- Warrenburg, Bart P van de;
- Willemsen, Michèl A;
- de Bot, Susanne T;
- van de Pol, Laura A;
- van Gaalen, Judith;
- van de Warrenburg, Bart P;
- Misra-Isrie, Mala
Publication type:
Letter
Network localization of cervical dystonia based on causal brain lesions.
Published in:
2019
By:
- Corp, Daniel T;
- Joutsa, Juho;
- Darby, R Ryan;
- Delnooz, Cathérine C S;
- Warrenburg, Bart P C van de;
- Cooke, Danielle;
- Prudente, Cecília N;
- Ren, Jianxun;
- Reich, Martin M;
- Batla, Amit;
- Bhatia, Kailash P;
- Jinnah, Hyder A;
- Liu, Hesheng;
- Fox, Michael D;
- van de Warrenburg, Bart P C
Publication type:
journal article
Multimodal, Longitudinal Profiling of SCA1 Identifies Predictors of Disease Severity and Progression.
Published in:
Annals of Neurology, 2024, v. 96, n. 4, p. 774, doi. 10.1002/ana.27032
By:
- van Prooije, Teije H.;
- Kapteijns, Kirsten C.J.;
- van Asten, Jack J.A.;
- IntHout, Joanna;
- Verbeek, Marcel M.;
- Scheenen, Tom W.J.;
- van de Warrenburg, Bart P.
Publication type:
Article
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4132, doi. 10.1093/brain/awad128
By:
- Raposo, Mafalda;
- Hübener-Schmid, Jeannette;
- Ferreira, Ana F;
- Melo, Ana Rosa Vieira;
- Vasconcelos, João;
- Pires, Paula;
- Kay, Teresa;
- Garcia-Moreno, Hector;
- Giunti, Paola;
- Santana, Magda M;
- Almeida, Luis Pereira de;
- Infante, Jon;
- Warrenburg, Bart P van de;
- Vries, Jeroen J de;
- Faber, Jennifer;
- Klockgether, Thomas;
- Casadei, Nicolas;
- Admard, Jakob;
- Schöls, Ludger;
- group, European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study
Publication type:
Article
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
Published in:
2018
By:
- Eidhof, Ilse;
- Baets, Jonathan;
- Kamsteeg, Erik-Jan;
- Deconinck, Tine;
- Ninhuijs, Lisa van;
- Martin, Jean-Jacques;
- Schüle, Rebecca;
- Züchner, Stephan;
- Jonghe, Peter De;
- Schenck, Annette;
- van Ninhuijs, Lisa;
- De Jonghe, Peter;
- van de Warrenburg, Bart P
Publication type:
journal article
Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?
Published in:
2017
By:
- de Bot, Susanne;
- Kamsteeg, Erik-Jan;
- van deWarrenburg, Bart P. C.;
- van de Warrenburg, Bart P C
Publication type:
Letter
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Published in:
2017
By:
- Nibbeling, Esther A. R.;
- Duarri, Anna;
- Verschuuren-Bemelmans, Corien C.;
- Fokkens, Michiel R.;
- Karjalainen, Juha M.;
- Smeets, Cleo J. L. M.;
- de Boer-Bergsma, Jelkje J.;
- van der Vries, Gerben;
- Dooijes, Dennis;
- Bampi, Giovana B.;
- Diemen, Cleo van;
- Brunt, Ewout;
- Ippel, Elly;
- Kremer, Berry;
- Vlak, Monique;
- Adir, Noam;
- Wijmenga, Cisca;
- van de Warrenburg, Bart P. C.;
- Franke, Lude;
- Sinke, Richard J.
Publication type:
journal article
A single session of cerebellar theta burst stimulation does not alter writing performance in writer's cramp.
Published in:
2015
By:
- Linssen, Manon W;
- van Gaalen, Judith;
- Munneke, Moniek A M;
- Hoffland, Britt S;
- Hulstijn, Wouter;
- van de Warrenburg, Bart P C
Publication type:
commentary
Abnormal eyeblink conditioning is an early marker of cerebellar dysfunction in preclinical SCA3 mutation carriers.
Published in:
Experimental Brain Research, 2019, v. 237, n. 2, p. 427, doi. 10.1007/s00221-018-5424-y
By:
- van Gaalen, J.;
- Maas, R. P. P. W. M.;
- Ippel, E. F.;
- Elting, M. W.;
- van Spaendonck-Zwarts, K. Y.;
- Vermeer, S.;
- Verschuuren-Bemelmans, C.;
- Timmann, D.;
- van de Warrenburg, Bart P.
Publication type:
Article
Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia.
Published in:
Cerebellum, 2024, v. 23, n. 5, p. 2012, doi. 10.1007/s12311-024-01700-2
By:
- Potashman, Michele;
- Rudell, Katja;
- Pavisic, Ivanna;
- Suminski, Naomi;
- Doma, Rinchen;
- Heinrich, Maggie;
- Abetz-Webb, Linda;
- Beiner, Melissa Wolfe;
- Kuo, Sheng-Han;
- Rosenthal, Liana S.;
- Zesiwicz, Theresa;
- Fife, Terry D.;
- van de Warrenburg, Bart P.;
- Ristori, Giovanni;
- Synofzik, Matthis;
- Perlman, Susan;
- Schmahmann, Jeremy D.;
- L'Italien, Gilbert
Publication type:
Article
Discordance Between Patient-Reported Outcomes and Physician-Rated Motor Symptom Severity in Early-to-Middle-Stage Spinocerebellar Ataxia Type 3.
Published in:
Cerebellum, 2021, v. 20, n. 6, p. 887, doi. 10.1007/s12311-021-01252-9
By:
- Maas, Roderick P. P. W. M.;
- Schutter, Dennis J. L. G.;
- van de Warrenburg, Bart P. C.
Publication type:
Article
Clinical, psychological, and genetic characteristics of spinocerebellar ataxia type 19 (SCA19).
Published in:
Cerebellum, 2005, v. 4, n. 1, p. 51, doi. 10.1080/14734220510007888
By:
- Jurgen Schelhaas, H.;
- Van De Warrenburg, Bart P. C.
Publication type:
Article
Republished: A practical approach to late-onset cerebellar ataxia: putting the disorder with lack of order into order.
Published in:
Postgraduate Medical Journal, 2012, v. 88, n. 1041, p. 407, doi. 10.1136/postgradmedj-2011-000108rep
By:
- Van Gaalen, Judith;
- Van De Warrenburg, Bart P. C.
Publication type:
Article
Correction to: Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study.
Published in:
2021
By:
- Maas, Roderick P. P. W. M.;
- Toni, Ivan;
- Doorduin, Jonne;
- Klockgether, Thomas;
- Schutter, Dennis J. L. G.;
- van de Warrenburg, Bart P. C.
Publication type:
corrected article
Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases.
Published in:
PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0116599
By:
- Duarri, Anna;
- Nibbeling, Esther A. R.;
- Fokkens, Michiel R.;
- Meijer, Michel;
- Boerrigter, Melissa;
- Verschuuren-Bemelmans, Corien C.;
- Kremer, Berry P. H.;
- van de Warrenburg, Bart P.;
- Dooijes, Dennis;
- Boddeke, Erik;
- Sinke, Richard J.;
- Verbeek, Dineke S.
Publication type:
Article
Task-Free Functional MRI in Cervical Dystonia Reveals Multi-Network Changes That Partially Normalize with Botulinum Toxin
Published in:
PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0062877
By:
- Delnooz, Cathérine C. S.;
- Pasman, Jaco W.;
- Beckmann, Christian F.;
- van de Warrenburg, Bart P. C.
Publication type:
Article
Therapeutic Strategies for Spinocerebellar Ataxia Type 1.
Published in:
Biomolecules (2218-273X), 2023, v. 13, n. 5, p. 788, doi. 10.3390/biom13050788
By:
- Kerkhof, Laurie M. C.;
- van de Warrenburg, Bart P. C.;
- van Roon-Mom, Willeke M. C.;
- Buijsen, Ronald A. M.
Publication type:
Article
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1312, doi. 10.1038/ejhg.2013.27
By:
- de Bot, Susanne T;
- Burggraaff, Rogier C;
- Herkert, Johanna C;
- Schelhaas, Helenius J;
- Post, Bart;
- Diekstra, Adinda;
- van Vliet, Reinout O;
- van der Knaap, Marjo S;
- Kamsteeg, Erik-Jan;
- Scheffer, Hans;
- van de Warrenburg, Bart P;
- Verschuuren-Bemelmans, Corien C;
- Kremer, Hubertus PH
Publication type:
Article
The Dutch Yips Study: Results of a Survey Among Golfers.
Published in:
Tremor & Other Hyperkinetic Movements, 2021, v. 11, p. 1, doi. 10.5334/tohm.636
By:
- VAN WENSEN, ERIK;
- VAN DER ZAAG-LOONEN, HESTER J.;
- VAN DE WARRENBURG, BART P.
Publication type:
Article
A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.
Published in:
Neuropathology & Applied Neurobiology, 2023, v. 49, n. 2, p. 1, doi. 10.1111/nan.12892
By:
- Santana, Magda M.;
- Gaspar, Laetitia S.;
- Pinto, Maria M.;
- Silva, Patrick;
- Adão, Diana;
- Pereira, Dina;
- Afonso Ribeiro, Joana;
- Cunha, Inês;
- Huebener-Schmid, Jeannette;
- Raposo, Mafalda;
- Ferreira, Ana F.;
- Faber, Jennifer;
- Kuhs, Sandra;
- Garcia-Moreno, Hector;
- Reetz, Kathrin;
- Thieme, Andreas;
- Infante, Jon;
- van de Warrenburg, Bart P. C.;
- Giunti, Paola;
- Riess, Olaf
Publication type:
Article
A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.
Published in:
Neuropathology & Applied Neurobiology, 2023, v. 49, n. 1, p. 1, doi. 10.1111/nan.12892
By:
- Santana, Magda M.;
- Gaspar, Laetitia S.;
- Pinto, Maria M.;
- Silva, Patrick;
- Adão, Diana;
- Pereira, Dina;
- Ribeiro, Joana Afonso;
- Cunha, Inês;
- Huebener‐Schmid, Jeannette;
- Raposo, Mafalda;
- Ferreira, Ana F.;
- Faber, Jennifer;
- Kuhs, Sandra;
- Garcia‐Moreno, Hector;
- Reetz, Kathrin;
- Thieme, Andreas;
- Infante, Jon;
- van de Warrenburg, Bart P. C.;
- Giunti, Paola;
- Riess, Olaf
Publication type:
Article
Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands.
Published in:
2021
By:
- Kerstens, Hans C. J. W.;
- Van Lith, Bas J. H.;
- Nijkrake, Maarten J.;
- De Swart, Bert J. M.;
- Van den Bemd, Laura A. C.;
- Smeets, Rob J. E. M.;
- Klemens, Fheodoroff;
- Van de Warrenburg, Bart P. C.;
- Van der Wees, Philip J.;
- Geurts, Alexander C. H.
Publication type:
journal article
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 905
By:
- Reetz, Kathrin;
- Costa, Ana S.;
- Mirzazade, Shahram;
- Lehmann, Anna;
- Juzek, Agnes;
- Rakowicz, Maria;
- Boguslawska, Romana;
- Schöls, Ludger;
- Linnemann, Christoph;
- Mariotti, Caterina;
- Grisoli, Marina;
- Dürr, Alexandra;
- van de Warrenburg, Bart P.;
- Timmann, Dagmar;
- Pandolfo, Massimo;
- Bauer, Peter;
- Jacobi, Heike;
- Hauser, Till-Karsten;
- Klockgether, Thomas;
- Schulz, Jörg B.
Publication type:
Article
Cerebral pathological and compensatory mechanisms in the premotor phase of leucine-rich repeat kinase 2 parkinsonism.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3687
By:
- van Nuenen, Bart F. L.;
- Helmich, Rick C.;
- Ferraye, Murielle;
- Thaler, Avner;
- Hendler, Talma;
- Orr-Urtreger, Avi;
- Mirelman, Anat;
- Bressman, Susan;
- Marder, Karen S.;
- Giladi, Nir;
- van de Warrenburg, Bart P. C.;
- Bloem, Bastiaan R.;
- Toni, Ivan
Publication type:
Article
Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 10, p. 2994, doi. 10.1093/brain/aws224
By:
- van Gassen, Koen L. I.;
- van der Heijden, Charlotte D. C. C.;
- de Bot, Susanne T.;
- den Dunnen, Wilfred F. A.;
- van den Berg, Leonard H.;
- Verschuuren-Bemelmans, Corien C.;
- Kremer, H. P. H.;
- Veldink, Jan H.;
- Kamsteeg, Erik-Jan;
- Scheffer, Hans;
- van de Warrenburg, Bart P.
Publication type:
Article
SCA19 and SCA22: evidence for one locus with a worldwide distribution.
Published in:
Brain: A Journal of Neurology, 2004, v. 127, n. 1, p. 6
By:
- Helenius J. Schelhaas;
- Dineke S. Verbeek;
- Bart P. C. Van de Warrenburg;
- Richard J. Sinke
Publication type:
Article
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Published in:
Nature Communications, 2015, v. 6, n. 7, p. 7623, doi. 10.1038/ncomms8623
By:
- Thiffault, Isabelle;
- Wolf, Nicole I.;
- Forget, Diane;
- Guerrero, Kether;
- Tran, Luan T.;
- Choquet, Karine;
- Lavallée-Adam, Mathieu;
- Poitras, Christian;
- Brais, Bernard;
- Yoon, Grace;
- Sztriha, Laszlo;
- Webster, Richard I.;
- Timmann, Dagmar;
- van de Warrenburg, Bart P.;
- Seeger, Jürgen;
- Zimmermann, Alíz;
- Máté, Adrienn;
- Goizet, Cyril;
- Fung, Eva;
- van der Knaap, Marjo S.
Publication type:
Article
Improving gait adaptability in patients with hereditary spastic paraplegia (Move-HSP): study protocol for a randomized controlled trial.
Published in:
2021
By:
- van de Venis, Lotte;
- van de Warrenburg, Bart P. C.;
- Weerdesteyn, Vivian;
- van Lith, Bas J. H.;
- Geurts, Alexander C. H.;
- Nonnekes, Jorik
Publication type:
journal article
Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands.
Published in:
2020
By:
- van Lith, Bas J. H.;
- Kerstens, Hans C. J. W.;
- van den Bemd, Laura A. C.;
- der Sanden, Maria W. G. Nijhuis-van;
- Weerdesteyn, Vivian;
- Smeets, Rob J. E. M.;
- Fheodoroff, Klemens;
- van de Warrenburg, Bart P. C.;
- Geurts, Alexander C. H.
Publication type:
journal article
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Published in:
2019
By:
- Schon, Katherine;
- van Os, Nienke J.H.;
- Oscroft, Nicholas;
- Baxendale, Helen;
- Scoffings, Daniel;
- Ray, Julian;
- Suri, Mohnish;
- Whitehouse, William P.;
- Mehta, Puja R.;
- Everett, Natasha;
- Bottolo, Leonardo;
- Warrenburg, Bart P.;
- Byrd, Philip J.;
- Weemaes, Corry;
- Willemsen, Michel A.;
- Tischkowitz, Marc;
- Taylor, A. Malcolm;
- Hensiek, Anke E.;
- van de Warrenburg, Bart P
Publication type:
journal article
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Published in:
2018
By:
- Seong, Eunju;
- Insolera, Ryan;
- Dulovic, Marija;
- Kamsteeg, Erik‐Jan;
- Trinh, Joanne;
- Brüggemann, Norbert;
- Sandford, Erin;
- Li, Sheng;
- Ozel, Ayse Bilge;
- Li, Jun Z.;
- Jewett, Tamison;
- Kievit, Anneke J. A.;
- Münchau, Alexander;
- Shakkottai, Vikram;
- Klein, Christine;
- Collins, Catherine A.;
- Lohmann, Katja;
- van de Warrenburg, Bart P.;
- Burmeister, Margit;
- Kamsteeg, Erik-Jan
Publication type:
journal article
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Published in:
Annals of Neurology, 2012, v. 72, n. 6, p. 870, doi. 10.1002/ana.23700
By:
- Duarri, Anna;
- Jezierska, Justyna;
- Fokkens, Michiel;
- Meijer, Michel;
- Schelhaas, Helenius J.;
- den Dunnen, Wilfred F. A.;
- van Dijk, Freerk;
- Verschuuren-Bemelmans, Corien;
- Hageman, Gerard;
- van de Vlies, Pieter;
- Küsters, Benno;
- van de Warrenburg, Bart P.;
- Kremer, Berry;
- Wijmenga, Cisca;
- Sinke, Richard J.;
- Swertz, Morris A.;
- Kampinga, Harm H.;
- Boddeke, Erik;
- Verbeek, Dineke S.
Publication type:
Article
Angiogenin, a piece of the complex puzzle of neurodegeneration.
Published in:
Annals of Neurology, 2012, v. 71, n. 5, p. 727, doi. 10.1002/ana.23585
By:
- van Es, Michael A.;
- Landers, John E.;
- van de Warrenburg, Bart P.;
- van den Berg, Leonard H.
Publication type:
Article
Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch–French cohort.
Published in:
Annals of Neurology, 2005, v. 57, n. 4, p. 505
By:
- Bart P. C. van de Warrenburg;
- Harrie Hendriks;
- Alexandra Dürr;
- Martin C. A. van Zuijlen;
- Giovanni Stevanin;
- Agnès Camuzat;
- Richard J. Sinke;
- Alexis Brice;
- Berry P. H. Kremer
Publication type:
Article
Neuromuscular transmission in SCA6.
Published in:
Annals of Neurology, 2004, v. 55, n. 3, p. 451
By:
- H. Jurgen Schelhaas;
- Bart P. C Van De Warrenburg;
- Hubertus P. H. Kremer;
- Machiel J. Zwarts
Publication type:
Article
An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study.
Published in:
Journal of Neurology, 2024, v. 271, n. 8, p. 5468, doi. 10.1007/s00415-024-12505-y
By:
- Scaravilli, Alessandra;
- Gabusi, Ilaria;
- Mari, Gaia;
- Battocchio, Matteo;
- Bosticardo, Sara;
- Schiavi, Simona;
- Bender, Benjamin;
- Kessler, Christoph;
- Brais, Bernard;
- La Piana, Roberta;
- van de Warrenburg, Bart P.;
- Cosottini, Mirco;
- Timmann, Dagmar;
- Daducci, Alessandro;
- Schüle, Rebecca;
- Synofzik, Matthis;
- Santorelli, Filippo Maria;
- Cocozza, Sirio
Publication type:
Article
Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors.
Published in:
2024
By:
- Hengel, Holger;
- Martus, Peter;
- Faber, Jennifer;
- Giunti, Paola;
- Garcia-Moreno, Hector;
- Solanky, Nita;
- Klockgether, Thomas;
- Reetz, Kathrin;
- van de Warrenburg, Bart P.;
- Santana, Magda M.;
- Silva, Patrick;
- Cunha, Inês;
- de Almeida, Luís Pereira;
- Timmann, Dagmar;
- Infante, Jon;
- de Vries, Jeroen;
- Lima, Manuela;
- Pires, Paula;
- Bushara, Khalaf;
- Jacobi, Heike
Publication type:
Correction Notice
The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.
Published in:
Journal of Neurology, 2023, v. 270, n. 2, p. 944, doi. 10.1007/s00415-022-11441-z
By:
- Hengel, Holger;
- Martus, Peter;
- Faber, Jennifer;
- Giunit, Paola;
- Garcia-Moreno, Hector;
- Solanky, Nita;
- Klockgether, Thomas;
- Reetz, Kathrin;
- van de Warrenburg, Bart P.;
- Santana, Magda M.;
- Silva, Patrick;
- Cunha, Inês;
- de Almeida, Luís Pereira;
- Timmann, Dagmar;
- Infante, Jon;
- de Vries, Jeroen;
- Lima, Manuela;
- Pires, Paula;
- Bushara, Khalaf;
- Jacobi, Heike
Publication type:
Article
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
Published in:
Journal of Neurology, 2022, v. 269, n. 11, p. 6086, doi. 10.1007/s00415-022-11275-9
By:
- Ghorbani, Fatemeh;
- de Boer-Bergsma, Jelkje;
- Verschuuren-Bemelmans, Corien C.;
- Pennings, Maartje;
- de Boer, Eddy N.;
- Kremer, Berry;
- Vanhoutte, Els K.;
- de Vries, Jeroen J.;
- van de Berg, Raymond;
- Kamsteeg, Erik-Jan;
- van Diemen, Cleo C.;
- Westers, Helga;
- van de Warrenburg, Bart P.;
- Verbeek, Dineke S.
Publication type:
Article
Increased trunk movements in people with hereditary spastic paraplegia: do these involve balance correcting strategies?
Published in:
Journal of Neurology, 2022, v. 269, n. 8, p. 4264, doi. 10.1007/s00415-022-11054-6
By:
- van de Venis, Lotte;
- Weerdesteyn, Vivian;
- Konijnenburg, Aletta;
- van de Warrenburg, Bart P. C.;
- Geurts, Alexander C. H.;
- Nonnekes, Jorik
Publication type:
Article
The complexities of CACNA1A in clinical neurogenetics.
Published in:
Journal of Neurology, 2022, v. 269, n. 6, p. 3094, doi. 10.1007/s00415-021-10897-9
By:
- Hommersom, Marina P.;
- van Prooije, Teije H.;
- Pennings, Maartje;
- Schouten, Meyke I.;
- van Bokhoven, Hans;
- Kamsteeg, Erik-Jan;
- van de Warrenburg, Bart P. C.
Publication type:
Article
The cerebellar cognitive affective syndrome scale reveals early neuropsychological deficits in SCA3 patients.
Published in:
Journal of Neurology, 2021, v. 268, n. 9, p. 3456, doi. 10.1007/s00415-021-10516-7
By:
- Maas, Roderick P. P. W. M.;
- Killaars, Sven;
- van de Warrenburg, Bart P. C.;
- Schutter, Dennis J. L. G.
Publication type:
Article
A word of hope for ataxia trials in COVID-19 time and beyond.
Published in:
Journal of Neurology, 2021, v. 268, n. 7, p. 2343, doi. 10.1007/s00415-020-10231-9
By:
- Maas, Roderick P. P. W. M.;
- Ramjith, Jordache;
- Klockgether, Thomas;
- Roes, Kit C. B.;
- van de Warrenburg, Bart P. C.
Publication type:
Article
COVID-19 reveals influence of physical activity on symptom severity in hereditary spastic paraplegia.
Published in:
2020
By:
- van de Venis, Lotte;
- van de Warrenburg, Bart P. C.;
- Weerdesteyn, Vivian;
- van Lith, Bas J. H.;
- Geurts, Alexander C. H.;
- Nonnekes, Jorik
Publication type:
Letter
Classic ataxia-telangiectasia: the phenotype of long-term survivors.
Published in:
Journal of Neurology, 2020, v. 267, n. 3, p. 830, doi. 10.1007/s00415-019-09641-1
By:
- 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.
Publication type:
Article
StartReact during gait initiation reveals differential control of muscle activation and inhibition in patients with corticospinal degeneration.
Published in:
Journal of Neurology, 2018, v. 265, n. 11, p. 2531, doi. 10.1007/s00415-018-9027-0
By:
- van Lith, Bas J. H.;
- Coppens, Milou J. M.;
- Nonnekes, Jorik;
- van de Warrenburg, Bart P. C.;
- Geurts, Alexander C.;
- Weerdesteyn, Vivian
Publication type:
Article
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 663, doi. 10.1002/jimd.12507
By:
- 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.
Publication type:
Article
The Architecture of Contemporary Care Networks for Rare Movement Disorders: Leveraging the ParkinsonNet Experience.
Published in:
Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.638853
By:
- van de Warrenburg, Bart P.;
- Tiemessen, Mark;
- Munneke, Marten;
- Bloem, Bastiaan R.
Publication type:
Article
Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Published in:
Annals of Neurology, 2024, v. 95, n. 2, p. 400, doi. 10.1002/ana.26824
By:
- Faber, Jennifer;
- Berger, Moritz;
- Wilke, Carlo;
- Hubener‐Schmid, Jeannette;
- Schaprian, Tamara;
- Santana, Magda M.;
- Grobe‐Einsler, Marcus;
- Onder, Demet;
- Koyak, Berkan;
- Giunti, Paola;
- Garcia‐Moreno, Hector;
- Gonzalez‐Robles, Cristina;
- Lima, Manuela;
- Raposo, Mafalda;
- Melo, Ana Rosa Vieira;
- de Almeida, Luís Pereira;
- Silva, Patrick;
- Pinto, Maria M.;
- van de Warrenburg, Bart P.;
- van Gaalen, Judith
Publication type:
Article

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