The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Characyeristic features and progression of abnormalities on MRI for CARASIL
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
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Niemann-Pick Type C Disease
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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The Spectrum of Fragile X Disorders
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A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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Melas Syndrome
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A 35-Year-Old Woman with Personality Change and Gait Impairment
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Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
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Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Complex Ataxia
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Pediatric Leigh Syndrome
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Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
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Neurologic Manifestations of von Hippel-Lindau Disease
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Metabolic Disease and Stroke: MELAS
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Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
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Mitochondrial DNA Polymerase-y and Human Disease
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Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
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Prader-Willi and Angelman Syndromes
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Clinical Spectrum of CADASIL:A Study of 7 Families
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Hereditary Hemorrhagic Telangiectasia
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
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MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
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A Familial Disorder with Subcortical Ischemic Strokes, Dementia, and Leukoencephalopathy
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Hallervorden-Spatz Syndrome and Brain Iron Metabolism
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