Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies-Reference-Cited by-同舟云学术

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies

Published:2017-11-07 Issue:5 Volume:143 Page:507-522
ISSN:0022-3042
Container-title:Journal of Neurochemistry
language:en
Short-container-title:J. Neurochem.

Author:

Dohrn Maike F.¹²^ORCID,Glöckle Nicola¹,Mulahasanovic Lejla¹,Heller Corina¹,Mohr Julia¹,Bauer Christine¹,Riesch Erik¹,Becker Andrea¹,Battke Florian¹,Hörtnagel Konstanze¹,Hornemann Thorsten³,Suriyanarayanan Saranya³,Blankenburg Markus⁴⁵,Schulz Jörg B.²⁶^ORCID,Claeys Kristl G.⁷,Gess Burkhard²,Katona Istvan⁸,Ferbert Andreas⁹,Vittore Debora¹⁰,Grimm Alexander¹⁰,Wolking Stefan¹⁰,Schöls Ludger¹⁰,Lerche Holger¹⁰,Korenke G. Christoph¹¹,Fischer Dirk¹²,Schrank Bertold¹³,Kotzaeridou Urania¹⁴,Kurlemann Gerhard¹⁵,Dräger Bianca¹⁶,Schirmacher Anja¹⁶,Young Peter¹⁶,Schlotter-Weigel Beate¹⁷,Biskup Saskia¹

Affiliation:

1. CeGaT GmbH and Praxis für Humangenetik Tübingen; Tuebingen Germany

2. Department of Neurology; Medical Faculty; RWTH Aachen University; Aachen Germany

3. Institute for Clinical Chemistry; University Hospital Zürich; Zurich Switzerland

4. Department of Pediatric Neurology Klinikum Stuttgart; Olgahospital, Stuttgart Germany

5. Faculty of Health; Witten/Herdecke University; Witten Germany

6. JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging; Forschungszentrum Jülich GmbH and RWTH Aachen University; Aachen Germany

7. Department of Neurology; University Hospitals Leuven and University of Leuven (KU Leuven); Leuven Belgium

8. Institute of Neuropathology; Medical Faculty; RWTH Aachen University; Aachen Germany

9. Department of Neurology; Klinikum Kassel; Kassel Germany

10. Department of Neurology and Epileptology; Hertie Institute for Clinical Brain Research; University of Tübingen; Tuebingen Germany

11. Department of Neuropediatrics; Children's Hospital Oldenburg; Oldenburg Germany

12. Department of Neurology; University of Basel Hospital; Basel Switzerland

13. Department of Neurology; Deutsche Klinik für Diagnostik; Wiesbaden Germany

14. Department of General Pediatrics; Division of Inherited Metabolic Diseases; University Children's Hospital; Heidelberg Germany

15. Department of Neuropediatrics; University Hospital Münster; Muenster Germany

16. Department of Sleep Medicine and Neuromuscular Disorders; University Hospital Münster; Muenster Germany

17. Department of Neurology; Friedrich-Baur-Institute; Ludwig-Maximilians-University of Munich; Munich Germany

Funder

Swiss National Foundation SNF

Rare Disease Initiative Zurich

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jnc.14217/fullpdf

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