Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
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Full title
Author / Creator
Martínez-Rubio, Dolores , Hinarejos, Isabel , Sancho, Paula , Gorría-Redondo, Nerea , Bernadó-Fonz, Raquel , Tello, Cristina , Marco-Marín, Clara , Martí-Carrera, Itxaso , Martínez-González, María Jesús , García-Ribes, Ainhoa , Baviera-Muñoz, Raquel , Sastre-Bataller, Isabel , Martínez-Torres, Irene , Duat-Rodríguez, Anna , Janeiro, Patrícia , Moreno, Esther , Pías-Peleteiro, Leticia , Gordo, Mar O’Callaghan , Ruiz-Gómez, Ángeles , Muñoz, Esteban , Martí, Maria Josep , Sánchez-Monteagudo, Ana , Fuster, Candela , Andrés-Bordería, Amparo , Pons, Roser Maria , Jesús-Maestre, Silvia , Mir, Pablo , Lupo, Vincenzo , Pérez-Dueñas, Belén , Darling, Alejandra , Aguilera-Albesa, Sergio and Espinós, Carmen
Publisher
Basel: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Basel: MDPI AG
Subjects
More information
Scope and Contents
Contents
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 cases compatible with abnormal brain iron deposits are known. The patients were evaluated using stand...
Alternative Titles
Full title
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
Authors, Artists and Contributors
Author / Creator
Hinarejos, Isabel
Sancho, Paula
Gorría-Redondo, Nerea
Bernadó-Fonz, Raquel
Tello, Cristina
Marco-Marín, Clara
Martí-Carrera, Itxaso
Martínez-González, María Jesús
García-Ribes, Ainhoa
Baviera-Muñoz, Raquel
Sastre-Bataller, Isabel
Martínez-Torres, Irene
Duat-Rodríguez, Anna
Janeiro, Patrícia
Moreno, Esther
Pías-Peleteiro, Leticia
Gordo, Mar O’Callaghan
Ruiz-Gómez, Ángeles
Muñoz, Esteban
Martí, Maria Josep
Sánchez-Monteagudo, Ana
Fuster, Candela
Andrés-Bordería, Amparo
Pons, Roser Maria
Jesús-Maestre, Silvia
Mir, Pablo
Lupo, Vincenzo
Pérez-Dueñas, Belén
Darling, Alejandra
Aguilera-Albesa, Sergio
Espinós, Carmen
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9570320
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9570320
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms231911847
