2025
Polyglutamine expansion induced dynamic misfolding of androgen receptor. Heling LWHJ, Sheikhhassani V, Ng J, van Vliet M, Jiménez-Panizo A, Alegre-Martí A, Woodard J, van Roon-Mom W, McEwan IJ, Estébanez-Perpiñá E, Mashaghi A. Protein Sci. 2025 Jun;34(6):e70154. doi: 10.1002/pro.70154.PMID: 40371721
A scalable system using mini-organs to test personalized RNA therapy. Buijsen RAM. Nature 2025 Feb;638(8049):47-48. doi: 10.1038/d41586-025-00078-3
2024
A Guide to Chemical Considerations for the Pre-Clinical Development of Oligonucleotides. O’Reilly D, van Roon-Mom W, Aartsma-Rus A; N = 1 Collaborative.Nucleic Acid Ther. 2024 Dec;34(6):295-298. doi: 10.1089/nat.2024.0031. Epub 2024 Aug 7.PMID: 39110607
Training and peer-group coaching for pairs of researchers and patient representatives to support continuous two-way learning. Schoemaker CG, Scalkers I, de Jong BA, Wissink W, le Loux S, Buijsen RAM, Russcher K, van der Steeg FAM, Blom J, Vroonland E. Res Involv Engagem. 2024 Oct 25;10(1):110. doi: 10.1186/s40900-024-00646-3.
Mapping the glial transcriptome in Huntington’s disease using snRNAseq: selective disruption of glial signatures across brain regions. Bøstrand SMK, Seeker LA, Bestard-Cuche N, Kazakou NL, Jäkel S, Kenkhuis B, Henderson NC, de Bot ST, van Roon-Mom WMC, Priller J, Williams A. Acta Neuropathol Commun. 2024 Oct 21;12(1):165. doi: 10.1186/s40478-024-01871-3.PMID: 39428482
Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA Therapeutics. Aartsma-Rus A, Collin RWJ, Elgersma Y, Lauffer MC, van Roon-Mom W. Ther Adv Rare Dis. 2024 Sep 23;5:26330040241273465. doi: 10.1177/26330040241273465. eCollection 2024 Jan-Dec.PMID: 39328974
Calcium-Enhanced Medium-Based Delivery of Splice Modulating Antisense Oligonucleotides in 2D and 3D hiPSC-Derived Neuronal Models. Buijsen RAM, van der Graaf LM, Kuijper EC, Pepers BA, Daoutsali E, Weel L, Raz V, Parfitt DA, van Roon-Mom WMC. Biomedicines. 2024 Aug 23;12(9):1933. doi: 10.3390/biomedicines12091933.PMID: 39335447
Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7. Bouwman LF, Joosen MEM, Buijsen RAM, van der Graaf LM, Pepers BA, Voesenek BJB, Brosens E, van de Warrenburg BPC, van Roon-Mom WMC. Stem Cell Res. 2024 Aug;78:103462. doi: 10.1016/j.scr.2024.103462. Epub 2024 Jun 4.PMID: 38851031
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments. Zardetto B, van Roon-Mom W, Aartsma-Rus A, Lauffer MC. Hum Mutat. 2024 May 29;2024:9933129. doi: 10.1155/2024/9933129. eCollection 2024.PMID: 40225946
Glucocorticoid receptor antagonist CORT113176 attenuates motor and neuropathological symptoms of Huntington’s disease in R6/2 mice. Gentenaar M, Meulmeester FL, van der Burg XR, Hoekstra AT, Hunt H, Kroon J, van Roon-Mom WMC, Meijer OC. Exp Neurol. 2024 Apr;374:114675. doi: 10.1016/j.expneurol.2024.114675. Epub 2024 Jan 10.PMID: 38216109
Inflammation-induced TRPV4 channels exacerbate blood-brain barrier dysfunction in multiple sclerosis. Hansen CE, Kamermans A, Mol K, Berve K, Rodriguez-Mogeda C, Fung WK, van Het Hof B, Fontijn RD, van der Pol SMA, Michalick L, Kuebler WM, Kenkhuis B, van Roon-Mom W, Liedtke W, Engelhardt B, Kooij G, Witte ME, de Vries HE. J Neuroinflammation. 2024 Mar 23;21(1):72. doi: 10.1186/s12974-024-03069-9.PMID: 38521959
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments. Zardetto B, Lauffer MC, van Roon-Mom W, Aartsma-Rus A, On Behalf Of The N Collaborative. Hum Mutat. 2024 Apr 18;2024:9920230. doi: 10.1155/2024/9920230. eCollection 2024.PMID: 40225926
Biodistribution of Radioactively Labeled Splice Modulating Antisense Oligonucleotides After Intracerebroventricular and Intrathecal Injection in Mice. Metz T, Welling MM, Suidgeest E, Nieuwenhuize E, de Vlaam T, Curtis D, Hailu TT, van der Weerd L, van Roon-Mom WMC. Nucleic Acid Ther. 2024 Feb;34(1):26-34. doi: 10.1089/nat.2023.0018.PMID: 38386285
1 Mutation 1 Medicine: a European platform for ASO development and treatments for individuals with severely debilitating or life threatening nano-rare neurological diseases. Graessner H, Synofzik, M, Aartsma-Rus A, van Roon-Mom W, Lauffer M, Schuele R. European Journal of Human Genetics. 2024 Jan;32;735-735
Possibilities and limitations of antisense oligonucleotide therapies for the treatment of monogenic disorders. Lauffer MC, van Roon-Mom W, Aartsma-Rus A; N = 1 Collaborative.Commun Med (Lond). 2024 Jan 5;4(1):6. doi: 10.1038/s43856-023-00419-1.PMID: 38182878
Patient and variant stratification for personalized genetic treatments of nano-rare diseases. Lauffer MC, Zardetto B, van Roon-Mom W, Aartsma-Rus A. European Journal of Human Genetics. 2024 Jan;32;737-738
Antisense oligonucleotide-mediated disruption of HTT caspase-6 cleavage site ameliorates the phenotype of YAC128 Huntington disease mice. Kuijper EC, Overzier M, Suidgeest E, Dzyubachyk O, Maguin C, Pérot JB, Flament J, Ariyurek Y, Mei H, Buijsen RAM, van der Weerd L, van Roon-Mom W. Neurobiol Dis. 2024 Jan;190:106368. doi: 10.1016/j.nbd.2023.106368. Epub 2023 Nov 29.PMID: 38040383
2023
GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts: an observational case-control study. Tramutola A, Bakels HS, Perrone F, Di Nottia M, Mazza T, Abruzzese MP, Zoccola M, Pagnotta S, Carrozzo R, de Bot ST, Perluigi M, van Roon-Mom WMC, Squitieri F.E BioMedicine. 2023 Nov;97:104849. doi: 10.1016/j.ebiom.2023.104849. Epub 2023 Oct 26.PMID: 3789809
Early molecular layer interneuron hyperactivity triggers Purkinje neuron degeneration in SCA1. Pilotto F, Douthwaite C, Diab R, Ye X, Al Qassab Z, Tietje C, Mounassir M, Odriozola A, Thapa A, Buijsen RAM, Lagache S, Uldry AC, Heller M, Müller S, van Roon-Mom WMC, Zuber B, Liebscher S, Saxena S. Neuron. 2023 Aug 16;111(16):2523-2543.e10. doi: 10.1016/j.neuron.2023.05.016. Epub 2023 Jun 14.PMID: 37321222
From Failure to Meet the Clinical Endpoint to U.S. Food and Drug Administration Approval: 15th Antisense Oligonucleotide Therapy Approved Qalsody (Tofersen) for Treatment of SOD1 Mutated Amyotrophic Lateral Sclerosis. van Roon-Mom W, Ferguson C, Aartsma-Rus A. Nucleic Acid Ther. 2023 Aug;33(4):234-237. doi: 10.1089/nat.2023.0027.PMID: 37581487
Spinocerebellar Ataxia Type 1 Characteristics in Patient-Derived Fibroblast and iPSC-Derived Neuronal Cultures. Buijsen RAM, Hu M, Sáez-González M, Notopoulou S, Mina E, Koning W, Gardiner SL, van der Graaf LM, Daoutsali E, Pepers BA, Mei H, van Dis V, Frimat JP, van den Maagdenberg AMJM, Petrakis S, van Roon-Mom WMC. Mov Disord. 2023 Aug;38(8):1428-1442. doi: 10.1002/mds.29446. Epub 2023 Jun 6.PMID: 37278528
The potential value of disease-modifying therapy in patients with spinocerebellar ataxia type 1: an early health economic modeling study. van Prooije T, Ruigrok S, van den Berkmortel N, Maas RPPWM, Wijn S, van Roon-Mom WMC, van de Warrenburg B, Grutters JPC. J Neurol. 2023 Aug;270(8):3788-3798. doi: 10.1007/s00415-023-11704-3. Epub 2023 Apr 19.PMID: 37076599
Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction. Ouwerkerk J, Feleus S, van der Zwaan KF, Li Y, Roos M, van Roon-Mom WMC, de Bot ST, Wolstencroft KJ, Mina E.Orphanet J Rare Dis. 2023 Jul 27;18(1):218. doi: 10.1186/s13023-023-02785-4.PMID: 37501188
Therapeutic Strategies for Spinocerebellar Ataxia Type 1. Kerkhof LMC, van de Warrenburg BPC, van Roon-Mom WMC, Buijsen RAM. Biomolecules. 2023 May 2;13(5):788. doi:10.3390/biom13050788.PMID: 37238658
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations. Aartsma-Rus A, van Roon-Mom W, Lauffer M, Siezen C, Duijndam B, Coenen-de Roo T, Schüle R, Synofzik M, Graessner H. RNA. 2023 Apr;29(4):446-454. doi: 10.1261/rna.079540.122. Epub 2023 Jan 20.PMID: 36669889
Post-mortem 7T MR imaging and neuropathology in middle stage juvenile-onset Huntington disease: A case report. Bakels HS, van Duinen SG, de Bresser J, van Roon-Mom WMC, van der Weerd L, de Bot ST. Neuropathol Appl Neurobiol. 2023 Feb;49(1):e12858. doi: 10.1111/nan.12858. Epub 2022 Nov 13.
Amyloid beta accumulations and enhanced neuronal differentiation in cerebral organoids of Dutch-type cerebral amyloid angiopathy patients. Daoutsali E, Pepers BA, Stamatakis S, van der Graaf LM, Terwindt GM, Parfitt DA, Buijsen RAM, van Roon-Mom WMC. Front Aging Neurosci. 2023 Jan 17;14:1048584. doi: 10.3389/fnagi.2022.1048584. eCollection 2022.PMID: 36733499
2022
Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides. Aartsma-Rus A, Garanto A, van Roon-Mom W, McConnell EM, Suslovitch V, Yan WX, Watts JK, Yu TW. Nucleic Acid Ther. 2022 Dec 13. doi: 10.1089/nat.2022.0060.
Establishment of In Vitro Brain Models for AON Delivery. Daoutsali E, Buijsen RAM. Methods Mol Biol. 2022;2434:257-264. doi: 10.1007/978-1-0716-2010-6_17.
Potential disease-modifying therapies for Huntington’s disease: lessons learned and future opportunities. Tabrizi SJ, Estevez-Fraga C, van Roon-Mom WMC, Flower MD, Scahill RI, Wild EJ, Muñoz-Sanjuan I, Sampaio C, Rosser AE, Leavitt BR. Lancet Neurol. 2022 Jul;21(7):645-658. doi: 10.1016/S1474-4422(22)00121-1.
Iron accumulation induces oxidative stress, while depressing inflammatory polarization in human iPSC-derived microglia. Kenkhuis B, van Eekeren M, Parfitt DA, Ariyurek Y, Banerjee P, Priller J, van der Weerd L, van Roon-Mom WMC. Stem Cell Reports. 2022 Jun 14;17(6):1351-1365. doi: 10.1016/j.stemcr.2022.04.006. Epub 2022 May 5.
Co-expression patterns of microglia markers Iba1, TMEM119 and P2RY12 in Alzheimer’s disease. Kenkhuis B, Somarakis A, Kleindouwel LRT, van Roon-Mom WMC, Höllt T, van der Weerd L. Neurobiol Dis. 2022 Jun 1;167:105684. doi: 10.1016/j.nbd.2022.105684. Epub 2022 Mar 2.
17th Annual Meeting of the Oligonucleotide Therapeutics Society: A Tribute to Bob Letsinger, Progress in N = 1 Treatments, and Successful First In-Humans CRISPR Trials. Buijsen RAM, Lacroix A, Ochaba J, O’Reilly D, Abdullahu L, McConnell EM. Nucleic Acid Ther. 2022 Feb;32(1):1-7. doi: 10.1089/nat.2021.29004.ots. Epub 2022 Jan 24.PMID: 35073224
Delivery of Antisense Oligonucleotides to the Mouse Brain by Intracerebroventricular Injections. Metz T, Kuijper EC, van Roon-Mom WMC. Methods Mol Biol. 2022;2434:333-341. doi: 10.1007/978-1-0716-2010-6_23.
Establishment of In Vitro Brain Models for AON Delivery. Daoutsali E, Buijsen RAM. Methods Mol Biol. 2022;2434:257-264. doi: 10.1007/978-1-0716-2010-6_17.
Human induced pluripotent stem cell-based modelling of spinocerebellar ataxias. Marina P. Hommersom, Ronald A.M. Buijsen, Willeke M.C. van Roon-Mom, Bart P.C. van de Warrenburg, Hans van Bokhoven. Stem Cell Rev Rep. 2022 Feb;18(2):441-456. doi: 10.1007/s12015-021-10184-0. Epub 2021 May 25.
Huntington Disease Gene Expression Signatures in Blood Compared to Brain of YAC128 Mice as Candidates for Monitoring of Pathology. Kuijper EC, Toonen LJA, Overzier M, Tsonaka R, Hettne K, Roos M, van Roon-Mom WMC, Mina E. Mol Neurobiol. 2022 Apr;59(4):2532-2551. doi: 10.1007/s12035-021-02680-8. Epub 2022 Jan 29.
2021
Juvenile-Onset Huntington Disease Pathophysiology and Neurodevelopment: A Review. Bakels HS, Roos RAC, van Roon-Mom WMC, de Bot ST. Mov Disord. 2022 Jan;37(1):16-24. doi: 10.1002/mds.28823. Epub 2021 Oct 12.
Antisense oligonucleotide-induced APP splicing modulation as a therapeutic approach for Dutch-type Cerebral Amyloid Angiopathy. Elena Daoutsali, Tsinatkeab T. Hailu, Ronald A.M. Buijsen, Barry Pepers, Linda van der Graaf, Marcel M. Verbeek, Daniel Curtis, Thomas de Vlaam and Willeke van Roon-Mom. Nucleic Acid Ther. 2021 Oct;31(5):351-363. doi: 10.1089/nat.2021.0005. Epub 2021 May 31.
Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation. Haify SN, Buijsen RAM, Verwegen L, Severijnen LWFM, de Boer H, Boumeester V, Monshouwer R, Yang WY, Cameron MD, Willemsen R, Disney MD, Hukema RK. Hum Mol Genet. 2021 Aug 12;30(17):1632-1648. doi: 10.1093/hmg/ddab143.PMID: 34077515
Delivery of Oligonucleotide-Based Therapeutics: Challenges and Opportunities. Suzan M Hammond, Annemieke Aartsma-Rus, Sandra Alves, Sven Even Borgos, Ronald A.M. Buijsen, Rob W. J. Collin, Giuseppina Covello, Michela A. Denti, Lourdes R Desviat, Lucía Echevarría, Camilla Foged, Gisela Gaina, Alejandro Garanto, Aurelie T. Goyenvalle, Magdalena Guzowska, Irina Holodnuka, David R Jones, Sabine Krause, Taavi Lehto, Marisol Montolio, Willeke Van Roon-Mom and Virginia Arechavala-Gomeza. EMBO Mol Med. 2021 Apr 9;13(4):e13243. doi: 10.15252/emmm.202013243. Epub 2021 Apr 6.
Iron loading is a prominent feature of activated microglia in Alzheimer’s disease patients. Boyd Kenkhuis, Antonios Somarakis, Lorraine de Haan, Oleh Dzyubachyk, Marieke E IJsselsteijn, Noel FCC de Miranda, Boudewijn PF Lelieveldt, Jouke Dijkstra, Willeke MC van Roon-Mom, Thomas Höllt, Louise van der Weerd. Acta Neuropathol Commun. 2021 Feb 17;9(1):27. doi: 10.1186/s40478-021-01126-5.
2020
Statistical method for modelling sequencing data from different technologies in longitudinal studies with application to Huntington Disease. Angga M. Fuady, Willeke M. C. van Roon-Mom, Szymon M. Kiełbasa, Hae-Won Uh, Jeanine J. Houwing-Duistermaat. Biom J. 2021 Apr;63(4):745-760. doi: 10.1002/bimj.201900235. Epub 2020 Dec 22.
Pathological characterization of T2*-weighted MRI contrast in the striatum of Huntington’s disease patients. Marjolein Bulk; Ingrid Hegeman-Kleinn; Boyd Kenkhuis; Ernst Suidgeest; Willeke M.C. van Roon-Mom; Jan Lewerenz; Sjoerd van Duinen; Itamar Ronen; Louise van der Weerd. Neuroimage Clin. 2020;28:102498. doi: 10.1016/j.nicl.2020.102498. Epub 2020 Nov 10.
Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology. Alejandro Fulgencio-Coviánab, MarÁlvarez, Barry A. Pepers, Arístides López-Márquez, Magdalena Ugarte, Belén Pérez, Willeke M.C.van Roon-Mom, Lourdes R.Desviat, Eva Richard. Stem Cell Res. 2020 Dec;49:102055. doi: 10.1016/j.scr.2020.102055. Epub 2020 Oct 17.
2019
Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients. van der Wal E, den Hamer B, van der Vliet PJ, Tok M, Brands T, Eussen B, Lemmers RJLF, Freund C, de Klein A, Buijsen RAM, van Roon-Mom WMC, Tawil R, van der Maarel SM, de Greef JC.Stem Cell Res. 2019 Oct;40:101560. doi: 10.1016/j.scr.2019.101560. Epub 2019 Aug 28.PMID: 31518905
Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease. van der Graaf LM, Gardiner SL, Tok M, Brands T, Boogaard MW, Pepers BA, Eussen B, de Klein A, Aziz NA, Freund C, Buijsen RAM, van Roon-Mom WMC.Stem Cell Res. 2019 Aug;39:101498. doi: 10.1016/j.scr.2019.101498. Epub 2019 Jul 12.PMID: 31326748
Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias. Buijsen RAM, Toonen LJA, Gardiner SL, van Roon-Mom WMC. Neurotherapeutics. 2019 Apr;16(2):263-286. doi: 10.1007/s13311-018-00696-y.PMID: 30607747
Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient. Daoutsali E, Buijsen RAM, van de Pas S, Jong A’, Mikkers H, Brands T, Eussen B, de Klein A, van der Graaf LM, Pepers BA, Freund C, Terwindt GM, Orlova VV, van Roon-Mom WMC.Stem Cell Res. 2019 Jan;34:101359. doi: 10.1016/j.scr.2018.101359. Epub 2018 Dec 14.PMID: 30611017
2018
Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset. Gardiner SL, Milanese C, Boogaard MW, Buijsen RAM, Hogenboom M, Roos RAC, Mastroberardino PG, van Roon-Mom WMC, Aziz NA.Neurol Genet. 2018 Oct 4;4(5):e275. doi: 10.1212/NXG.0000000000000275. eCollection 2018 Oct.PMID: 30338295
Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model. Toonen LJA, Overzier M, Evers MM, Leon LG, van der Zeeuw SAJ, Mei H, Kielbasa SM, Goeman JJ, Hettne KM, Magnusson OT, Poirel M, Seyer A, ‘t Hoen PAC, van Roon-Mom WMC.Mol Neurodegener. 2018 Jun 22;13(1):31. doi: 10.1186/s13024-018-0261-9.PMID: 29929540
Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B. Buijsen RAM, Gardiner SL, Bouma MJ, van der Graaf LM, Boogaard MW, Pepers BA, Eussen B, de Klein A, Freund C, van Roon-Mom WMC.Stem Cell Res. 2018 May;29:125-128. doi: 10.1016/j.scr.2018.03.018. Epub 2018 Apr 5.PMID: 29656178
Intracerebroventricular Administration of a 2′-O-Methyl Phosphorothioate Antisense Oligonucleotide Results in Activation of the Innate Immune System in Mouse Brain. Toonen LJA, Casaca-Carreira J, Pellisé-Tintoré M, Mei H, Temel Y, Jahanshahi A, van Roon-Mom WMC.Nucleic Acid Ther. 2018 Apr;28(2):63-73. doi: 10.1089/nat.2017.0705. Epub 2018 Mar 22.PMID: 29565739
2017
Huntingtin gene repeat size variations affect risk of lifetime depression. Gardiner SL, van Belzen MJ, Boogaard MW, van Roon-Mom WMC, Rozing MP, van Hemert AM, Smit JH, Beekman ATF, van Grootheest G, Schoevers RA, Oude Voshaar RC, Roos RAC, Comijs HC, Penninx BWJH, van der Mast RC, Aziz NA.Transl Psychiatry. 2017 Dec 11;7(12):1277. doi: 10.1038/s41398-017-0042-1.PMID: 29225330
Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington’s Disease. Keo A, Aziz NA, Dzyubachyk O, van der Grond J, van Roon-Mom WMC, Lelieveldt BPF, Reinders MJT, Mahfouz A.Front Mol Neurosci. 2017 Nov 30;10:399. doi: 10.3389/fnmol.2017.00399. eCollection 2017.PMID: 29249939
Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice. Toonen LJA, Rigo F, van Attikum H, van Roon-Mom WMC.Mol Ther Nucleic Acids. 2017 Sep 15;8:232-242. doi: 10.1016/j.omtn.2017.06.019. Epub 2017 Jun 29.PMID: 28918024
Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates. Schut MH, Patassini S, Kim EH, Bullock J, Waldvogel HJ, Faull RLM, Pepers BA, den Dunnen JT, van Ommen GB, van Roon-Mom WMC.PLoS One. 2017 Jun 1;12(6):e0178556. doi: 10.1371/journal.pone.0178556. eCollection 2017.PMID: 28570578
Age of onset in Huntington’s disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes. Stuitje G, van Belzen MJ, Gardiner SL, van Roon-Mom WMC, Boogaard MW; REGISTRY Investigators of the European Huntington Disease Network, Tabrizi SJ, Roos RAC, Aziz NA.Brain. 2017 Jul 1;140(7):e42. doi: 10.1093/brain/awx122.PMID: 28549075
For more look at the separate group members what they published