The Phenotypic Continuum of ATP1A3-Related Disorders
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Clinicopath Conf
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Friedreich Ataxia
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Dominant Spinopontine Atrophy
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Juvenile Diabetes Mellitus & Optic Atrophy
Arch Neurol 34:759, Lessell,S.,et al, 1977
A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation
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Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
JAMA Neurol 81:762-770, Lee,S-U.,et al, 2024
A 35-Year-Old Woman with Personality Change and Gait Impairment
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
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An Unusual Fundus Finding in a Teenage Girl
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Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Downbeat Nystagmus: Aetiology and Comorbidity in 117 Patients
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Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
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Neuro-Ophthalmic Manifestations of Sarcoidosis. Clincal Spectrum, Evaluation and Management
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Retinocochleocerebral Vasculopathy
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Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Familial Hemiplegic Migraine, Nystagmus and Cerebellar Atrophy
Ann Neurol 39:100-106, Elliott,M.A.,et al, 1996
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
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Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Craniopharyngyoma in Children
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The Pretectal Syndrome:206 Patients
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Joubert Syndrome:A Clinico-Radiological Study
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Ocular Defects in Children with Cerebral Palsy
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Neurological Complications of Infantile Osteopetrosis
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Neurologic Complications After Treatment for Whipple's Disease:A Report of Four Patients
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Bilateral Altitudinal Anopia Caused by Infarction of the Calcarine Cortex
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Acquired Sixth-Nerve Paresis in Children
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Homonymous Hemianopia with Normal Magnetic Resonance Imaging
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A 47-year-old Man with Rapidly Progressive Ataxia and Vitiligo
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Clinicopathologic Conference, Granulomatous Amebic Encephalitis and Sarcoidosis (Inactive)
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Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
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Cyclical Konzo Epidemics and Climate Variability
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Extraintestinal Manifestations of Coeliac Disease
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Gertsmann-Straussler Schneinker Syndrome
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Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
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Clinicopathologic Conference, Glioblastonoma, WHO grade IV of IV, with Methylation of the MGMT Promoter
NEJM 366:2112-2120, Case 17-2012, 2012
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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Auto-Immune Cerebellar Ataxia with Anti-GAD Antibodies Accompanied by De Novo Late-Onset Type 1 Diabetes Mellitus
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Neuro-Ophthalmologic Manifestations of Paraneoplastic Syndromes
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Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
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Cerebellar Ataxia With Anti-Glutamic Acid Decarboxylase Antibodies
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Periodic Alternating Nystagmus Associated with Arnold-Chiari Malformation
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