Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
Dolores Martinez-Rubio,Paula Sancho,Isabel Hinarejos, Itxazo Marti,S. Jesus-Maestre,Raquel Baviera,I. Sastre,Irene Martinez,Marta Correa-Vela,Cristina Tello,Amparo Andres-Borderia,Ana Sanchez-Monteagudo,Alejandra Darling, A. Duat,P. Janeiro,E. Moreno,M. J. Martinez-Gonzalez,A. Ruiz,Vincenzo Lupo,P. Mir,Belen Perez-Duenas,Sergio Aguilera,Carmen Espinos International journal of molecular sciences（2022）
关键词
movement disorders,ataxia,cerebellar atrophy,neurodegeneration with brain iron accumulation (NBIA),gene panel,exome sequencing
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