De Novo and Dominantly Inherited <scp> <i>SPTAN1</i> </scp> Mutations Cause Spastic Paraplegia and Cerebellar Ataxia-Reference-Cited by-同舟云学术

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

Published:2022-02-12 Issue:6 Volume:37 Page:1175-1186
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Van de Vondel Liedewei¹²^ORCID,De Winter Jonathan¹²³,Beijer Danique¹²⁴,Coarelli Giulia⁵,Wayand Melanie⁶⁷,Palvadeau Robin⁸^ORCID,Pauly Martje G.⁹¹⁰^ORCID,Klein Katrin¹¹,Rautenberg Maren¹¹,Guillot‐Noël Léna⁵,Deconinck Tine¹²,Vural Atay¹³,Ertan Sibel¹³,Dogu Okan¹⁴,Uysal Hilmi¹⁵^ORCID,Brankovic Vesna¹⁶,Herzog Rebecca⁹^ORCID,Brice Alexis⁵,Durr Alexandra⁵,Klebe Stephan¹⁷,Stock Friedrich¹⁸,Bischoff Almut Turid¹⁹,Rattay Tim W.⁶⁷,Sobrido María‐Jesús²⁰²¹^ORCID,De Michele Giovanna²²,De Jonghe Peter²³,Klopstock Thomas¹⁹²³²⁴,Lohmann Katja¹⁰^ORCID,Zanni Ginevra²⁵,Santorelli Filippo M.²⁶,Timmerman Vincent²²⁷,Haack Tobias B.¹¹²⁸,Züchner Stephan⁴,Schüle Rebecca⁶⁷,Stevanin Giovanni⁵²⁹,Synofzik Matthis⁶⁷^ORCID,Basak A. Nazli⁸^ORCID,Baets Jonathan¹²³,

Affiliation:

1. Translational Neurosciences, Faculty of Medicine and Health Sciences University of Antwerp Antwerp Belgium

2. Laboratory of Neuromuscular Pathology Institute Born‐Bunge, University of Antwerp Antwerp Belgium

3. Neuromuscular Reference Centre, Department of Neurology Antwerp University Hospital Antwerp Belgium

4. Dr John T. Macdonald Foundation Department of Human Genetics John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine Miami FL USA

5. Sorbonne University, ICM‐Paris Brain Institute, INSERM, CNRS, APHP, Pitié Salpêtrière Hospital Paris France

6. Department of Neurodegenerative Diseases Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, University of Tübingen Tübingen Germany

7. German Center for Neurodegenerative Diseases (DZNE) University of Tübingen Tübingen Germany

8. Koc University, School of Medicine Suna and Inan Kirac Foundation Istanbul Turkey

9. Department of Neurology University Hospital Schleswig Holstein Lübeck Germany

10. Institute of Neurogenetics University of Lübeck Lübeck Germany

11. Institute of Medical Genetics and Applied Genomics University of Tuebingen Tübingen Germany

12. Center of Medical Genetics University of Antwerp and Antwerp University Hospital Edegem Belgium

13. School of Medicine, Department of Neurology Koc University Istanbul Turkey

14. Department of Neurology, School of Medicine Mersin University Mersin Turkey

15. Department of Neurology, School of Medicine Akdeniz University Antalya Turkey

16. Clinic for Child Neurology and Psychiatry University of Belgrade Belgrade Serbia

17. Department of Neurology University Hospital Essen Essen Germany

18. Institute of Human Genetics University Hospital Essen Essen Germany

19. Department of Neurology Friedrich‐Baur‐Institute, LMU Munich Munich Germany

20. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Santiago de Compostela Spain

21. Neurogenetics Research Group Instituto de Investigación Sanitaria (IDIS), Hospital Clínico Universitario, SERGAS Santiago de Compostela Spain

22. Department of Neurosciences and Reproductive and Odontostomatological Sciences Federico II University Naples Italy

23. German Center for Neurodegenerative Diseases (DZNE) Munich Germany

24. Munich Cluster for Systems Neurology (SyNergy) Munich Germany

25. Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences Bambino Gesù Children's Hospital Rome Italy

26. Molecular Medicine, IRCCS Fondazione Stella Maris Pisa Italy

27. Peripheral Neuropathy Research Group, Department of Biomedical Sciences University of Antwerp Antwerp Belgium

28. Centre for Rare Diseases University of Tübingen Tübingen Germany

29. Paris Sciences Lettres Research University Ecole Pratique des Hautes Etudes Paris France

Funder

Association Belge contre les Maladies Neuro-Musculaires

Damp Stiftung

Deutsche Forschungsgemeinschaft

Eberhard Karls Universität Tübingen

Fonds Wetenschappelijk Onderzoek

Horizon 2020 Framework Programme

National Institutes of Health

Universiteit Antwerpen

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28959

Reference48 articles.

1. The expanding genetic landscape of hereditary motor neuropathies

2. Overlapping molecular pathological themes link Charcot–Marie–Tooth neuropathies and hereditary spastic paraplegias

3. Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways

4. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

5. Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

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