Mutational spectrum of GNAL , THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review

Author:

Gómez‐Garre Pilar12ORCID,Jesús Silvia12,Periñán María Teresa12,Adarmes Astrid12,Alonso‐Canovas Araceli3,Blanco‐Ollero Alberto4,Buiza‐Rueda Dolores12,Carrillo Fátima12,Catalán‐Alonso María José5,Val Javier6,Escamilla‐Sevilla Francisco7,Espinosa‐Rosso Raúl8,Fernández‐Moreno María Carmen9,García‐Moreno José Manuel10,García‐Ruiz Pedro José6ORCID,Giacometti‐Silveira Sandra11,Gutiérrez‐García Javier12,López‐Valdés Eva5,Macías‐García Daniel12,Martínez‐Castrillo Juan Carlos3ORCID,Martínez‐Torres Irene13,Medialdea‐Natera María Pilar14,Mínguez‐Castellanos Adolfo7,Moya Miguel Ángel8,Ochoa‐Sepulveda Juan José15,Ojea Tomás11,Rodríguez Nuria16,Sillero‐Sánchez Miriam16,Tejera‐Parrado Cristina1,Mir Pablo12ORCID

Affiliation:

1. Movement Disorders Unit Clinical Neurology and Neurophysiology Department Institute of Biomedicine of Seville Virgen del Rocío University Hospital/CSIC/University of Seville Seville Spain

2. Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED Madrid Spain

3. Movement Disorders Unit Neurology Department Ramón y Cajal Hospital, IRYCIS Madrid Spain

4. Neurology Department Juan Ramón Jiménez Hospital Huelva Spain

5. Movement Disorders Unit Neurology Department La Fe Hospital Valencia Spain

6. Movement Disorders Unit Neurology Department San Carlos Clinical Hospital Madrid Spain

7. Movement Disorders Unit Neurology Department Virgen de las Nieves University Hospital Granada Spain

8. Neurology Department Puerta del Mar University Hospital Cádiz Spain

9. Neurology Department Virgen de Valme Hospital Seville Spain

10. Movement Disorders Unit Neurology Department Jiménez Díaz Foundation Madrid Spain

11. Neurology Department Virgen Macarena University Hospital Seville Spain

12. Neurology Department Carlos Haya Hospital Málaga Spain

13. Neurology Department San Cecilio University Hospital Granada Spain

14. Movement Disorders Unit Neurology Department Virgen de la Victoria University Hospital Málaga Spain

15. Neurology Department Reina Sofía University Hospital Córdoba Spain

16. Neurology Department Puerto Real University Hospital Cádiz Spain

Funder

Fundación Alicia Koplowitz

Fundación Mutua Madrileña

Instituto de Salud Carlos III

Agencia de Innovación y Desarrollo de Andalucía

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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