TY  - JOUR
AU  - Martínez-Rubio, Dolores
AU  - Hinarejos, Isabel
AU  - Sancho, Paula
AU  - Gorría-Redondo, Nerea
AU  - Bernadó-Fonz, Raquel
AU  - Tello, Cristina
AU  - Marco-Marín, Clara
AU  - Martí-Carrera, Itxaso
AU  - Martínez-González, María Jesús
AU  - García-Ribes, Ainhoa
AU  - Baviera-Muñoz, Raquel
AU  - Sastre-Bataller, Isabel
AU  - Martínez-Torres, Irene
AU  - Duat-Rodríguez, Anna
AU  - Janeiro, Patrícia
AU  - Moreno, Esther
AU  - Pías-Peleteiro, Leticia
AU  - Gordo, Mar O'Callaghan
AU  - Ruiz-Gómez, Ángeles
AU  - Muñoz, Esteban
AU  - Martí, Maria Josep
AU  - Sánchez-Monteagudo, Ana
AU  - Fuster, Candela
AU  - Andrés-Bordería, Amparo
AU  - Pons, Roser Maria
AU  - Jesús-Maestre, Silvia
AU  - Mir, Pablo
AU  - Lupo, Vincenzo
AU  - Pérez-Dueñas, Belén
AU  - Darling, Alejandra
AU  - Aguilera-Albesa, Sergio
AU  - Espinós, Carmen
PY  - 2022
DO  - 10.3390/ijms231911847
UR  - http://hdl.handle.net/10668/21202
T2  - International journal of molecular sciences
AB  - Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated...
LA  - en
KW  - ataxia
KW  - cerebellar atrophy
KW  - exome sequencing
KW  - gene panel
KW  - movement disorders
KW  - neurodegeneration with brain iron accumulation (NBIA)
KW  - Ataxia
KW  - Brain
KW  - Humans
KW  - Iron
KW  - Kinesins
KW  - Movement Disorders
KW  - Mutation
KW  - Neurodegenerative Diseases
KW  - Phenotype
KW  - Phosphotransferases (Alcohol Group Acceptor)
TI  - Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
TY  - research article
VL  - 23
ER  -