María Jesús
Sobrido Gómez
University of Tübingen
Tubinga, AlemaniaPublicacións en colaboración con investigadores/as de University of Tübingen (4)
2022
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De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
Movement Disorders, Vol. 37, Núm. 6, pp. 1175-1186
2019
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Recommendations for patient screening in ultra-rare inherited metabolic diseases: What have we learned from Niemann-Pick disease type C?
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 767-773
2017
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PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia
Clinical Genetics, Vol. 92, Núm. 5, pp. 534-539