Keyphrases
Apologizing
25%
ATN1
100%
Batten Disease
50%
Center Experience
50%
Clinical Features
25%
Clinical Treatment
50%
CLN7
50%
Congenital Anomalies
33%
Congenital Hypotonia
50%
DbVar
50%
Dentatorubral-pallidoluysian Atrophy (DRPLA)
50%
Developmental Delay
75%
Disease Pathways
25%
Diverse Patients
25%
DNA mutation
50%
Dystonia
25%
Enzyme Analysis
25%
Epilepsy
50%
Extraocular Movement
25%
Failure to Thrive
25%
Feeding Difficulties
50%
Genetics Home Reference
25%
Genomic Structural Variation
25%
GNAO1
50%
Heterogeneous Phenotype
25%
Human Condition
16%
Human Genetics
50%
KCNK9
50%
Long-term Development
50%
Mitochondrial Disease
50%
Mitochondrial DNA
25%
Mitochondrial DNA mutation
25%
Mitochondrial Encephalopathy
55%
Mitochondrial Myopathy
50%
Movement Abnormality
25%
NCBI Database
25%
Neurocognitive
100%
Neurodegenerative Conditions
25%
Neurology Clinic
25%
Non-progressive
100%
Nuclear DNA (nDNA)
50%
Nuclear Genome
50%
Repeat Motif
100%
Retinal Degeneration
50%
Seizure
58%
Severe Disabilities
25%
Spinal Abnormality
25%
Stroke Mimics
25%
Tertiary Care Hospital
50%
Wheelchair
25%
Biochemistry, Genetics and Molecular Biology
Adaptive Behavior
8%
Alpha Oxidation
8%
Amino Acid Substitution
25%
Amino Acids
33%
ATN1
100%
Batten Disease
50%
Beta Oxidation
16%
Binding Domain
25%
C-Terminus
25%
Caregiver Burden
7%
Clinical Trial
8%
Copurification
8%
DNA Mutation
50%
Electron Transport Chain
8%
Enoyl-CoA Hydratase
50%
Enzyme
25%
Enzymology
8%
Exome Sequencing
8%
G Protein
25%
Gene Mapping
100%
Gene Therapy
16%
Genetic Disorder
8%
Genetic Variation
100%
Genetics
58%
Genotyping
25%
Glucose Transporter
50%
Guanosine
50%
Guanosine Triphosphate
50%
Guinea Pig
8%
Human Genetics
50%
Inborn Error of Metabolism
8%
Infancy
8%
KCNK9
50%
Ketone Bodies
7%
Ketosis
28%
Leigh's Disease
16%
Metabolic Pathway
29%
Mitochondrial Disease
33%
Mitochondrial DNA
16%
Mosaicism
25%
Mouse
8%
Mouse Model
8%
Nerve Cell Differentiation
25%
Neuronal Ceroid Lipofuscinosis
50%
Nuclear DNA
33%
Protein Structure
25%
Signaling Protein
25%
Structural Protein
25%
Triheptanoin
50%
Valine
25%
Medicine and Dentistry
3 Hydroxybutyric Acid
14%
Ataxia
33%
Basal Ganglia
16%
Brain Disease
7%
Brainstem
33%
Caregiver Burden
7%
Central Nervous System
7%
Clinical Feature
16%
Clinical Research
7%
Clinical Trial
21%
Diagnosis
7%
Disease
28%
Disease Burden
7%
Disease Management
7%
Disorders of Mitochondrial Functions
7%
Dystonia
33%
Epileptic Seizure
16%
Eye Disease
16%
Fluorodeoxyglucose
7%
Food Supplement
7%
Glucose Transporter 1
50%
Health Care Cost
14%
Heptanoic Acid Derivative
7%
Human Genetics
50%
Hypotonia
33%
Intellectual Disability
33%
Ketoacidosis
28%
Ketogenesis
7%
Ketogenic Diet
50%
Ketone Bodies
7%
Learning Disorder
33%
Leigh's Disease
50%
Magnetic Resonance Imaging
16%
Medulla
16%
Midbrain
16%
Mitochondrial DNA
7%
Mitochondrial Encephalopathy
50%
Neurologic Disease
33%
Patient Population
7%
Patient Recruitment
7%
Patient Registry
50%
Plummer-Vinson Syndrome
16%
Positron Emission Tomography
7%
Precursor
7%
Quality of Life
14%
Rare Disease
14%
Reflux
16%
Research Participation
7%
Symptom
57%
Triheptanoin
50%
