TY  - JOUR
AU  - Ching-López, Ana
AU  - Martinez-Gonzalez, Luis Javier
AU  - Arrabal, Luisa
AU  - Sáiz, Jorge
AU  - Gavilán, Ángela
AU  - Barbas, Coral
AU  - Lorente, Jose Antonio
AU  - Roldán, Susana
AU  - Sanchez-Perez, Maria-Jose
AU  - Gutierrez-Ríos, Purificacion
PY  - 2021
DO  - 10.3390/ijms22062990
UR  - http://hdl.handle.net/10668/4074
T2  - International Journal of Molecular Sciences
AB  - Ataxia in children is a common clinical sign of numerous neurological disorders consisting of impaired coordination of voluntary muscle movement. Its most common form, cerebellar ataxia, describes a heterogeneous array of neurologic conditions with...
LA  - en
PB  - MDPI
KW  - Cerebellar ataxia
KW  - Diagnosis
KW  - Genomics
KW  - Transcriptomics
KW  - Metabolomics
KW  - Hypomyelination
KW  - Leukodystrophy
KW  - POLR1C
KW  - Ataxia cerebelosa
KW  - Diagnóstico
KW  - Genómica
KW  - Metabolómica
KW  - Leucoencefalopatías
KW  - ARN polimerasa I
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Adolescent
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Adult
KW  - Medical Subject Headings::Diseases::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Cerebellar Diseases::Cerebellar Ataxia
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Child
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Child::Child, Preschool
KW  - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Nucleotidyltransferases::RNA Nucleotidyltransferases::DNA-Directed RNA Polymerases
KW  - Medical Subject Headings::Check Tags::Female
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome
KW  - Medical Subject Headings::Check Tags::Male
KW  - Medical Subject Headings::Phenomena and Processes::Metabolic Phenomena::Metabolome
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Oxidoreductases
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Pedigree
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression::Transcription, Genetic::Transcriptome
KW  - Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Nutrition Disorders::Malnutrition::Deficiency Diseases::Avitaminosis::Vitamin B Deficiency::Vitamin B 12 Deficiency
KW  - Medical Subject Headings::Persons::Persons::Age Groups::Adult::Young Adult
TI  - Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia
TY  - research article
ER  -