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Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2012, Volume 320, Issue 1, pp. 102 - 105
Abstract We describe a 33-year-old male patient with mental retardation and cerebellar ataxia whose brain magnetic resonance imaging (MRI) showed diffuse... 
Neurology | Hypogonadotropic hypogonadism | Polymerase III | Compound heterozygous mutation | Central hypomyelination | Hypodontia | ATROPHY | BASAL GANGLIA | ATAXIA | NEUROSCIENCES | CLINICAL NEUROLOGY | LEUKOENCEPHALOPATHY | CONGENITAL CATARACT | CEREBELLUM | Anodontia - complications | Demyelinating Diseases - genetics | Humans | Demyelinating Diseases - complications | Magnetic Resonance Imaging - methods | Intellectual Disability - complications | Male | Intellectual Disability - genetics | Anodontia - genetics | Atrophy | Cerebellar Ataxia - physiopathology | Pyramidal Tracts - physiopathology | RNA Polymerase III - genetics | Adult | Hypogonadism - physiopathology | Anodontia - physiopathology | Demyelinating Diseases - pathology | Hypogonadism - pathology | Neuroimaging - methods | Demyelinating Diseases - physiopathology | Intellectual Disability - pathology | Neural Conduction - physiology | Cerebellar Ataxia - pathology | Disease Progression | Syndrome | Cerebellum - pathology | Hypogonadism - genetics | Intellectual Disability - physiopathology | Cerebellar Ataxia - complications | Cerebellar Ataxia - genetics | Corpus Callosum - pathology | Hypogonadism - complications | Anodontia - pathology | Index Medicus | Cerebellum | Neuroimaging | Brain | Basal ganglia | Preservation | Cerebellar ataxia | Cognitive ability | Peripheral nerves | Pyramidal tracts | Mental retardation | Corpus callosum | Hypogonadism | Nerve conduction | Magnetic resonance imaging | Mutation | Age | Catalytic subunits
Journal Article
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 2014, Volume 121, Issue 8, pp. 1620 - 1627
Journal Article
Journal Article