MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Author:

Ylikallio Emil12,Woldegebriel Rosa1,Tumiati Manuela3,Isohanni Pirjo14,Ryan Monique M.567,Stark Zornitza5,Walsh Maie5,Sawyer Sarah L.8,Bell Katrina M.5,Oshlack Alicia5,Lockhart Paul J.579,Shcherbii Mariia1,Estrada-Cuzcano Alejandro10,Atkinson Derek10,Hartley Taila8,Tetreault Martine1112,Cuppen Inge13,van der Pol W. Ludo14,Candayan Ayse15,Battaloglu Esra15,Parman Yesim16,van Gassen Koen L. I.17,van den Boogaard Marie-José H.17,Boycott Kym M.8,Kauppi Liisa3,Jordanova Albena10,Lönnqvist Tuula4,Tyynismaa Henna118

Affiliation:

1. Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland

2. Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, 00290 Helsinki, Finland

3. Research Programs Unit, Genome-Scale Biology, University of Helsinki, 00290 Helsinki, Finland

4. Department of Child Neurology, Children’s Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, 00290 Helsinki, Finland

5. Murdoch Children’s Research Institute, Melbourne, Victoria, 3052, Australia

6. Royal Children’s Hospital, Melbourne, Victoria, 3052, Australia

7. Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, 3052, Australia

8. Department of Genetics and Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada

9. Bruce Lefroy Centre, Murdoch Childrens Research Institute, Melbourne, Victoria, 3052, Australia

10. Molecular Neurogenomics Group, VIB Department of Molecular Genetics, University of Antwerp, 2610 Antwerpen, Belgium

11. Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada

12. McGill University and Genome Quebec Innovation Center, Montreal, QC H3A 1A4, Canada

13. Department of Paediatric Neurology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands

14. Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, 3508 Utrecht, The Netherlands

15. Bogazici University, Department of Molecular Biology and Genetics, Istanbul, Turkey

16. Istanbul University, Istanbul Medical School, Department of Neurology, Istanbul, Turkey

17. Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

18. Department of Medical and Clinical Genetics, University of Helsinki, 00290 Helsinki, Finland

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

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