Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
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Clinicopathological Conference
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Niemann-Pick Type C Disease
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A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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Melas Syndrome
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
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Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
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Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
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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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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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Neuroimaging Changes in Menkes Disease, Part 1
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
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A Neonate with Micrognathia and Hypotonia
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Hydrocephalus in Children
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Characyeristic features and progression of abnormalities on MRI for CARASIL
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Sturge-Weber Syndrome
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
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Huntingtons Disease
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Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Aicardi-Gouti�res Syndrome
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Metabolic Disease and Stroke: MELAS
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Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Dystonia
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Hypertrophic Cardiomyopathy A Systematic Review
JAMA 287:1308-1320, Maron, B.J., 2002
Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Clinical, Neuroimaging, and Pathologic Features of Progressive Nonfluent Aphasia
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Cerebrovascular Complications of Fabry's Disease
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Niemann-Pick Disease Type C from Bench to Bedside
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Clinicopath Conf
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Progressive Language Disorder Due to Lobar Atrophy
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Angelman Syndrome: Clinical Profile
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Tangier Disease in a Black Patient:An Unusual Clinical Presentation
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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