Physician
Neurology
Dr. Camilo Toro, MD
Camilo Toro works in the field of Neurology. Camilo Toro is also a published doctor. He has 16 publication published. The most recent publication is: The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
Publications
- Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.
- The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
- Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
- York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.
- Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.
- The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
- GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.
- Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2.
- Comprehensive Immunophenotyping of Cerebrospinal Fluid Cells in Patients with Neuroimmunological Diseases.
- Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12.
- Octanoic acid in alcohol-responsive essential tremor: a randomized controlled study.
- Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism.
- Detecting false-positive signals in exome sequencing.
- Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.
- Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder.
Schools
Pontificia Universidad Javeriana Facultad De Medicina
Doctors Specialties
- Neurology
Accepted Insurances
Education
-
Pontifical Xavierian University
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