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November 24, 2020; 95 (21) Article

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

Maria Gisatulin, Valerija Dobricic, Christine Zühlke, Yorck Hellenbroich, Vera Tadic, Alexander Münchau, Klaus Isenhardt, Katrin Bürk, Melanie Bahlo, Paul J. Lockhart, Katja Lohmann, Christoph Helmchen, Norbert Brüggemann
First published September 1, 2020, DOI: https://doi.org/10.1212/WNL.0000000000010744
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Article Information

vol. 95 no. 21 e2912-e2923
DOI: 
https://doi.org/10.1212/WNL.0000000000010744
PubMed: 
32873692
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • Received January 13, 2020
  • Accepted in final form June 25, 2020
  • First Published September 1, 2020.

Article Versions

Copyright & Usage: 
© 2020 American Academy of Neurology

Author Disclosures

    1. Maria Gisatulin*,
    2. Valerija Dobricic, PhD*,
    3. Christine Zühlke, MD, PhD,
    4. Yorck Hellenbroich, MD,
    5. Vera Tadic, MD,
    6. Alexander Münchau, MD,
    7. Klaus Isenhardt, MD,
    8. Katrin Bürk, MD,
    9. Melanie Bahlo, PhD,
    10. Paul J. Lockhart, PhD,
    11. Katja Lohmann, PhD†,
    12. Christoph Helmchen, MD† and
    13. Norbert Brüggemann, MD†
  1. Maria Gisatulin*,
    2. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  2. Valerija Dobricic, PhD*,
    3. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  3. Christine Zühlke, MD, PhD,
    4. Scientific Advisory Boards:

    1. None

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. None

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. None

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  4. Yorck Hellenbroich, MD,
    5. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  5. Vera Tadic, MD,
    6. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. (1) Actelion Pharmaceuticals (2) St. Jude Medical

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. (1) Deutsche Forschungsgemeinschaft (DFG; SFB 936/project C5; Prof. Dr. A. Münchau)

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  6. Alexander Münchau, MD,
    7. Scientific Advisory Boards:

    1. German Tourette syndrome Association; Alliance of patients with chronic rare diseases

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. Commercial research support: Grants by Pharm Allergan, Ipsen, Merz Pharmaceuticals, Actelion Honoraria for lectures from Pharm Allergan, Ipsen, Merz Pharmaceuticals, Actelion, GlaxoSmithKline, Desitin, Teva, TakedaSupport from non-profit foundations or societies Possehl-Stiftung, Lubeck; Dystonia Coalition (USA); Tourette Syndrome Association (Germany); European Huntington Disease Network; N.E.MO. Charity supporting the research of paediatric movement disorders

    Editorial Boards:

    1. DG Neurologie, Frontiers in Psychiatry, Cognitive Neuroscience,

    Patents:

    1. NONE

    Publishing Royalties:

    1. Royalties for the book Neurogenetics (Oxford University Press)

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Desitin, Merz Pharmaceuticals, Admedicum

    Speakers' Bureaus:

    1. Honoraria for lectures: Pharm Allergan, Ipsen, Merz Pharmaceuticals, Actelion, GlaxoSmithKline, Desitin, Teva, Takeda

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. Grants by Pharm Allergan, Ipsen, Merz Pharmaceuticals, Actelion

    Research Support, Government Entities:

    1. Deutsche Forschungsgemeinschaft (DFG): projects 1692/3-1, 4-1, SFB 936, and FOR 2698 (project numbers 396914663, 396577296, 396474989), Innovationsausschuss of the Gemeinsamer Bundesausschuss: Translate NAMSE (structural support for the Lubeck Center for Rare Diseases); European Reference Network ? Rare Neurological Diseases (ERN ? RND)

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Support from Foundations: Possehl-Stiftung (Lubeck, Germany), Margot und Jürgen Wessel Stiftung (Lübeck, Germany), Tourette Syndrome Association (Germany), Interessenverband Tourette Syndrom (Germany), CHDI, Damp-Stiftung;

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. Royalties from the publication of the book Neurogenetics (Oxford University Press)

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  7. Klaus Isenhardt, MD,
    8. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  8. Katrin Bürk, MD,
    9. Scientific Advisory Boards:

    1. None

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. 2018CHDITravel reimbursement and Congress Fee

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. Kliniken Schmieder, StuttgartNeurologist two years

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. CHDI

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  9. Melanie Bahlo, PhD,
    10. Scientific Advisory Boards:

    1. Macular Telangiectasia (MacTel) Consortium Scientific advisor March 2012 (non-profit) Department of Health (Australian Government), scientific advisory member (non-profit)

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Conference Presentations 2014 Human Genetics Society of Australia Conference, August, Adelaide, Australia (Plenary speaker, all expenses paid) Australian Statistical Society-Institute of Mathematical Statistics, July, Sydney, Australia (Session Organiser, Invited Speaker, Registration paid) International Conference on Systems Biology, September, Melbourne (Invited Speaker, Registration and Accommodation paid) 2013 Sixth Barossa Meeting "Cell Signalling Cell Signalling in the Omics Era", November, Barossa Valley, Australia, November (Invited Speaker, all expenses paid) The 8th International Conference on Genomics & Bio-IT APAC November, Shenzhen, China (Invited Speaker, all expenses paid except air travel)2012 The 7th International Conference on Genomics & Bio- IT APAC 2012, Hong Kong, China (Invited Speaker) International Mathematics Institute conference, Pacific Region, Tsukuba, Japan (Invited Speaker) Australian Statistical Society Conference, Adelaide (Invited speaker) International Stroke Genetics Meeting, Newcastle, Australia (Plenary speaker, all expenses paid) Human Genome Meeting, Sydney (Invited Speaker) AGTA (Invited Speaker, $500 towards costs) Bioinfosummer (2019) sydney all expenses paid FAME conference, Hangzhou, China 2019 all expenses paid Australian Academy of Science Australia-China symposium on precision medicine, Melbourne (invited speaker, all expenses paid) Other Presentations Discussant & Scientific advisor, MacTel Consortium Meeting, 2x pa 2012-2019 (New York/La Jolla) Viertel Symposium Brisbane (invited speaker, all expenses paid)

    Editorial Boards:

    1. Associate Editor, Statistical Applications in Genetics and Molecular Biology, 2006-2012 F1000 Faculty Member Medical Genetics section 2011-present

    Patents:

    1. Method of determining response to treatment with immunomodulatory composition Details genetic markers that predict response to Hepatitis C treatment. US provisional patent 150230, filed April 29th, 2011 (1407994)

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Other Presentations Discussant & Scientific advisor, MacTel Consortium Meeting, Los Angeles, USA (Invited, all expenses paid), March 2012

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. 2016-2020 NHMRC Senior Research Fellowship A, APP1102971, Bahlo M,” Discovery and translation of disease causing mutations with genomic and transcriptomic data “, $124,531 pa 2014-2018 NHMRC Program Grant Application APP1054618, Speed TP, Smyth GK, Bahlo M, Papenfuss TP, “Computational and statistical bioinformatics for medical ‘omics’" 2013-2015 NHMRC Project Grant Application APP1044175, Scheffer I, Lockhart P, Bahlo M, Delatycki M, Wilson S, “Genetics of Autism” 2013-2014 National Heart Foundation Award G 12S 6597, NHMRC Project Grant Application APP1051333 Fatkin D, Bahlo M, Kikuchi K, “Genes and atrial fibrillation” 2012-2014 Australian Research Council (ARC) Discovery Project Grant DP120100285. Scheffer IE, Morgan AT, Hildebrand MS, Connelly A, Liegeois F, Bahlo M, Smith RJ. “Elucidating the neural pathways and genetic basis of speech” 2011-2012 Victorian Life Sciences Computing Initiative (VLSCI) half-stipend for UROP student David Wakeham, Bahlo M, “Analysis of massively parallel sequencing data in family studies”, 2010-2012 Royal Melbourne Hospital Home Lottery Research Awards “Genome-wide Multigenic Pharmacogenomic Classifiers for Newly Treated Epilepsy”, Petrovski S, O'Brien TJ, Huggins RM., Moldovan M, Bahlo M 2010-2013 Leukemia Foundation National Research Program. Fuller SJ, Hahn CN, Bahlo M, Scott HS, Wiley JS. “Using familial predisposition to Chronic Lymphocytic Leukaemia to follow disease progression” 2010-2014 ARC Future Fellowship, Level 1, ID # FT100100764, “Developing methods for the analysis of massively parallel sequencing data in family studies” 2011-2015 NHMRC Senior Research Fellowship A, ID #1002098, “Using modern DNA techniques to identify the causes of genetic disease in families” (This has been accepted as an honorary appointment) Program Grant Program Grant ID # 490037, Foote SJ, Speed TP, Smyth GK, Bahlo M, Chalmers D, Amor DJ, “Genetic and Bioinformatic Analysis of Complex Human Diseases”, 2011 Cancer Australia Foote SJ, Dickinson J, Stankovich J, Thomson R, Bahlo M “Integrative genomic approaches to understanding the genetics of prostate cancer” 2009-2011 ARC Linkage Grant LPO990067 “Functional Genomics to Predict and Enhance Response to Interferon” George J, Booth D, Yang J, Bahlo M. 2007-2011 DEST International Science Linkages grant ID # CG120047. Berkovic S, Korczyn M, Mulley J, Gecz J, Bahlo M. “An international strategy for gene identification leading to discovery of new targets for treatment of neurological disease.”

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Human Genetics Society of Australia Epilepsy Society of Australia Royal Statistical Society Institute of Mathematical Statistics Biometrics Society of Australasia Australian Statistics Society American Society of Human Genetics International Genetic Epidemiology Society

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  10. Paul J. Lockhart, PhD,
    11. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. (1) Genetics Research International, Editorial board member, 2010-2017 (2) Open Access (OA) Genetics, Editorial board member, 2012-2016 (3) Journal of Neurochemistry, Handling Editor, 2018-current

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. 1. National Health and Medical Research Council (Australia) Project grant APP1144724 2018-2020. 2. National Health and Medical Research Council (Australia) Project grant APP1128933 2017-2018. 3. National Health and Medical Research Council (Australia) Project grant APP1098255 2016-2020. 4. National Health and Medical Research Council (Australia) Project grant APP1161549 2019-2021.

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. 1. Michael J Fox Foundation, Project Grant 12173, 20166-2018 2. McCusker Charitable Foundation, 2018 3. Vincent Chiodo Foundation 2019-2020

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  11. Katja Lohmann, PhD†,
    12. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. NONE

    Editorial Boards:

    1. NONE

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. University of Luebeck

    Consultancies:

    1. NONE

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. German Research Foundation(DFG; LO1555/3-2; LO1555/4-1) Dystonia Coalition Damp-Foundation

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  12. Christoph Helmchen, MD† and
    13. Scientific Advisory Boards:

    1. NONE

    Gifts:

    1. NONE

    Funding for travel or speaker honoraria:

    1. Received travel expenses and/or honoraria for lectures or educational activities not funded by industry

    Editorial Boards:

    1. Frontiers Neuro-otology (Review Editor)

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Commercial: honoraria from Sensorion, Heel company

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. NONE

    Research Support, Government Entities:

    1. NONE

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. NONE

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  13. Norbert Brüggemann, MD†
    14. Scientific Advisory Boards:

    1. None

    Gifts:

    1. NONE

    Funding for Travel or Speaker Honoraria:

    1. Dr. Brüggemann received speaker honoraria from Abbvie and Teva.

    Editorial Boards:

    1. Parkinsonism and Related Disorders, editorial board member, since 2018

    Patents:

    1. NONE

    Publishing Royalties:

    1. NONE

    Employment, Commercial Entity:

    1. NONE

    Consultancies:

    1. Centogene

    Speakers' Bureaus:

    1. NONE

    Other Activities:

    1. NONE

    Clinical Procedures or Imaging Studies:

    1. NONE

    Research Support, Commercial Entities:

    1. Dr. Brüggemann received research support from Medtronic, St Judes Medical and Bayer.

    Research Support, Government Entities:

    1. Dr. Norbert Brüggemann received funding from the German Research Foundation (BR 4328/2-1) and the Else-Kröner Fresenius Stiftung (2017_HA17).

    Research Support, Academic Entities:

    1. NONE

    Research Support, Foundations and Societies:

    1. Dr. Brüggemann received funding from the Collaborative Center for X-linked Dystonia-Parkinsonism at Massachusetts General Hospital, Boston, USA.

    Stock/Stock Options/Board of Directors Compensation:

    1. NONE

    License Fee Payments, Technology or Inventions:

    1. NONE

    Royalty Payments, Technology or Inventions:

    1. NONE

    Stock/Stock Options, Research Sponsor:

    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:

    1. NONE

    Legal Proceedings:

    1. NONE

  1. From the Institute of Neurogenetics (M.G., V.D., V.T., K.L., N.B.), Institute of Human Genetics (C.Z., Y.H.), Institute of Systems Motor Science (A.M.), and Center of Brain, Behavior and Metabolism (N.B.), University of Lübeck; Department of Neurology (V.T., C.H., N.B.), University Medical Center Schleswig-Holstein, Campus Lübeck; Department of Neurology (K.I.), Klinikum Aschaffenburg; Department of Neurology (K.B.), Kliniken Schmieder, Stuttgart, Germany; Population Health and Immunity Division (M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (M.B.), University of Melbourne; Bruce Lefroy Centre (P.J.L.), Murdoch Children's Research Institute; and Department of Pediatrics (P.J.L.), University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
  1. Correspondence
    Dr. Brüggemann norbert.brueggemann{at}neuro.uni-luebeck.de
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