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The neurogenetics of mucolipidosis type IV
G. Altarescu
, M. Sun
, D. F. Moore
, J. A. Smith
, E. A. Wiggs
, B. I. Solomon
, N. J. Patronas
, K. P. Frei
, S. Gupta
, C. R. Kaneski
, O. W. Quarrell
, S. A. Slaugenhaupt
, E. Goldin
, R. Schiffmann
*
*
Corresponding author for this work
Research output
:
Contribution to journal
›
Review article
›
peer-review
154
Scopus citations
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Keyphrases
Neurogenetics
100%
Mucolipidosis Type IV
100%
MCOLN1
40%
Gene Family
20%
Genotype
20%
Genetic Method
20%
Autosomal Recessive
20%
Iron Deficiency
20%
Motor Function
20%
Anemia
20%
Delayed Diagnosis
20%
Gastrin
20%
Neuroimaging Techniques
20%
Genetic Abnormalities
20%
Degenerative Disease
20%
Clinical Abnormalities
20%
Encephalopathy
20%
Clinical Genetics
20%
Optic Atrophy 1 (OPA1)
20%
Cerebral Palsy
20%
Corpus Callosum Agenesis
20%
Retinal Dystrophy
20%
Mental Impairment
20%
Clinical Technique
20%
Clinical Neuroimaging
20%
Transient Receptor Potential
20%
Potential Genes
20%
Mucolipin
20%
Severe Motor Disability
20%
Thin Corpus Callosum
20%
Achlorhydria
20%
Corneal Clouding
20%
Head MRI
20%
Medicine and Dentistry
Mucolipidosis Type IV
100%
Corpus Callosum
40%
Genetics
40%
Magnetic Resonance Imaging
20%
Anemia
20%
Delayed Diagnosis
20%
Iron Deficiency
20%
Brain Disease
20%
Dysplasia
20%
Motor Performance
20%
Spastic Diplegia
20%
Gastrin
20%
Retina Dystrophy
20%
Multigene Family
20%
Speech Production
20%
Autosomal Recessive Disorder
20%
Optic Nerve Atrophy
20%
Diseases
20%
Receptor Potential
20%
Achlorhydria
20%
Biochemistry, Genetics and Molecular Biology
Neurogenetics
100%
Mucolipidosis Type IV
100%
MCOLN1
40%
Multigene Family
20%
Genetics
20%
Genotyping
20%
Receptor Potential
20%
Dysplasia
20%
Autosomal Recessive Disorder
20%
Iron Deficiency
20%
Motor Performance
20%
Genetic Procedures
20%
Optics
20%
Magnetic Resonance Imaging
20%
Gastrin Blood Level
20%
Nursing and Health Professions
Mucolipidosis
100%
Anemia
20%
Nuclear Magnetic Resonance Imaging
20%
Cerebral Palsy
20%
Brain Disease
20%
Dysplasia
20%
Optic Nerve Atrophy
20%
Logopedics
20%
Neuroimaging
20%
Autosomal Recessive Disorder
20%
Diseases
20%
Receptor Potential
20%
Iron Deficiency
20%
Retina Dystrophy
20%
Achlorhydria
20%
Gastrin Blood Level
20%
Delayed Diagnosis
20%
Multigene Family
20%
Genetic Procedures
20%
Neuroscience
Mucolipidosis Type IV
100%
Corpus Callosum
40%
Genetics
40%
Gastrin
20%
Magnetic Resonance Imaging
20%
Multigene Family
20%
Receptor Potential
20%
Cerebral Palsy
20%
Retinal Dystrophy
20%
Dysplasia
20%
Autosomal Recessive Disorder
20%
Blood Plasma
20%
Brain Disease
20%
Optics
20%