Maria J. Sobrido
A Coruna, GA 15006, Spain
Last Updated: 09/26/2026
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Found 16 publications
Hypometabolism and atrophy patterns associated with Niemann-Pick type C.
Journal: EJNMMI research
Published: October 09, 2024
Severe neurometabolic phenotype in npc1 -/- zebrafish with a C-terminal mutation.
Journal: Frontiers in molecular neuroscience
Published: October 24, 2022
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
Journal: Annals of clinical and translational neurology
Published: March 06, 2020
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.
Journal: Journal of medical genetics
Published: July 31, 2018
An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA).
Journal: BMC medical informatics and decision making
Published: May 29, 2017
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Journal: American journal of human genetics
Published: March 17, 2017
Prevalence of spinocerebellar ataxia 36 in a US population.
Journal: Neurology. Genetics
Published: September 20, 2016
Automated semantic annotation of rare disease cases: a case study.
Journal: Database : the journal of biological databases and curation
Published: November 17, 2015
Automated semantic annotation of rare disease cases: a case study.
Journal: Database : the journal of biological databases and curation
Published: June 07, 2014
Last Updated: 09/26/2026