PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

Author:

Ozes B.1,Karagoz N.2,Schüle R.34,Rebelo A.5,Sobrido M.-J.6,Harmuth F.7,Synofzik M.34,Pascual S.I.P.8,Colak M.2,Ciftci-Kavaklioglu B.2,Kara B.9,Ordóñez-Ugalde A.6,Quintáns B.6,Gonzalez M.A.5,Soysal A.2,Zuchner S.5,Battaloglu E.1ORCID

Affiliation:

1. Department of Molecular Biology and Genetics; Bogazici University; Istanbul Turkey

2. Department of Neurology; Bakirkoy Training and Research Hospital for Psychiatry and Neurological Diseases; Istanbul Turkey

3. Department of Neurodegeneration; Hertie Institute for Clinical Brain Research and Centre of Neurology; Tuebingen Germany

4. University of Tuebingen; German Research Center for Neurodegenerative Diseases (DZNE); Tuebingen Germany

5. Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics; University of Miami Miller School of Medicine; Miami Florida

6. Neurogenetics Group; FPGMX-IDIS; Santiago de Compostela Spain

7. Institute of Medical Genetics and Applied Genomics; University of Tuebingen; Tuebingen Germany

8. Servicio de Neurologia Pediátrica, Hospital Universitario La Paz, Prof. Asociado Departamento de Pediatria; Universidad Autónoma de Madrid; Madrid Spain

9. Department of Radiology; Bakirkoy Dr. Sadi Konuk Training and Research Hospital; Istanbul Turkey

Funder

Bogazici University Research Fund

National Institutes of Health

E-RARE JTC

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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