Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
Shimazaki, H
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. [electronic resource] - Neurology Aug 2002 - 590-5 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0028-3878
10.1212/wnl.59.4.590 doi
Adult
Age of Onset
Apraxias--diagnosis
Brain--diagnostic imaging
Cerebellum--pathology
Chromosomes, Human, Pair 9--genetics
Comorbidity
DNA Mutational Analysis
DNA-Binding Proteins--genetics
Disease Progression
Female
Hematologic Diseases--diagnosis
Humans
Japan--epidemiology
Magnetic Resonance Imaging
Male
Middle Aged
Mutation
Nuclear Proteins--genetics
Oculomotor Muscles--physiopathology
Pedigree
Serum Albumin--deficiency
Spinocerebellar Degenerations--diagnosis
Sural Nerve--pathology
Tomography, X-Ray Computed
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. [electronic resource] - Neurology Aug 2002 - 590-5 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0028-3878
10.1212/wnl.59.4.590 doi
Adult
Age of Onset
Apraxias--diagnosis
Brain--diagnostic imaging
Cerebellum--pathology
Chromosomes, Human, Pair 9--genetics
Comorbidity
DNA Mutational Analysis
DNA-Binding Proteins--genetics
Disease Progression
Female
Hematologic Diseases--diagnosis
Humans
Japan--epidemiology
Magnetic Resonance Imaging
Male
Middle Aged
Mutation
Nuclear Proteins--genetics
Oculomotor Muscles--physiopathology
Pedigree
Serum Albumin--deficiency
Spinocerebellar Degenerations--diagnosis
Sural Nerve--pathology
Tomography, X-Ray Computed