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Authors
Schlüter, Agatha
Vélez-Santamaría, Valentina
Verdura, Edgard
Rodríguez-Palmero, Agustí
Ruiz, Montserrat
Fourcade, Stéphane
Planas-Serra, Laura
Launay, Nathalie
Guilera, Cristina
Martínez, Juan José
Homedes-Pedret, Christian
Albertí-Aguiló, M. Antonia
Zulaika, Miren
Martí, Itxaso
Troncoso, Mónica
Tomás-Vila, Miguel
Bullich, Gemma
García-Pérez, M. Asunción
Sobrido-Gómez, María-Jesús
López-Laso, Eduardo
Fons, Carme
Del Toro, Mireia
Macaya, Alfons
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García-Cazorla, Àngels
Ortiz-Martínez, Antonio José
Ignacio-Ortez, Carlos
Cáceres-Marzal, Cristina
Martínez-Salcedo, Eduardo
Mondragón, Elisabet
Barredo, Estíbaliz
Airaldi, Ileana Antón
Martínez, Javier Ruiz
Ramos, Joaquin A. Fernández
Vázquez, Juan Francisco
Díez-Porras, Laura
Vázquez-Cancela, María
O’Callaghan, Mar
Sánchez, Tamara Pablo
Nedkova, Velina
Pérez, Ana Isabel Maraña
Beltran, Sergi
Gutiérrez-Solana, Luis G.
Pérez-Jurado, Luis A.
Aguilera-Albesa, Sergio
de Munain, Adolfo López
Casasnovas, Carlos
Pujol, Aurora https://orcid.org/0000-0002-9606-0600
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Funding
Funding for this research was provided by:
Undiagnosed Rare Diseases Program of Catalonia (SLT002/16/00174)
Research Networking Center on Rare Diseases (ACCI19-759)
Fundación Hesperia
Centre Nacional d’Anàlisi Genòmica (300 exomes to elucidate rare diseases)
Fundació la Marató de TV3 (202006-30, 504/C/2020)
Association Strümpell-Lorrain / HSP-France
AWS Cloud Credits for Research program
Instituto de Salud Carlos III (Miguel Servet (CPII16/00016), Sara Borrell (CD19/00221), Rio Hortega (CM18/00145))
European Social Fund (ESF, investing in your future)
fondo europeo del desarrollo regional (FIS PI20/00758)
Center for Biomedical Research on Rare Diseases
European Reference Network for Rare Neurological Diseases (Project ID No 739510)
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Article History
Received: 8 February 2023
Accepted: 24 July 2023
First Online: 7 September 2023
Declarations
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: The Clinical Research Ethics Committee of Bellvitge approved this study (CEIC Nr. PR076/14) as a single institutional review board. An explanation of the benefits and uncertainty risks of the research and whole-exome and whole-genome sequencing to the patients and their families was given by each referring physician. Written informed consent for genetic testing was obtained from the parents or legal guardians of each patient in accordance with the Declaration of Helsinki. The authors archived all signed consent forms. Each dataset was deidentified.
: Written informed consent for publication was obtained at enrollment.
: The authors declare that they have no competing interests.
