GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
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Fragile X Premutation With Atypical Symptoms at Onset
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Prader-Willi and Angelman Syndromes
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Neurotoxicity of Commonly Used Antineoplastic Agents
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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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A Triad of Tremor, Ataxia, and Cognitive Impairment
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Neuronal Intranuclear Inclusion Disease Showing Intranuclear Inclusions in Renal Biopsy 12 Years Earlier
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Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
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Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Acute Encephalitis
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Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Acute Cerebellitis (Acute Ataxia of Childhood)
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Subacute Sclerosing Panencephalitis
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Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Epilepsy Syndromes in Infancy
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Mitochondrial DNA Polymerase-y and Human Disease
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
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The Neurological Complications of Bariatric Surgery
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Niemann-Pick Disease Type C from Bench to Bedside
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Cytomegalovirus Encephalitis
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Mitochondrial DNA and Disease
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Cerebromeningeal Haemophagocytic Lymphohistiocytosis
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Neuronal Intranuclear Inclusion Disease in a Child:Diagnosis by Rectal Biopsy
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Brain Metabolism in Mitochondrial Encephalomyopathy:A PET Study
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Cogan's Syndrome:18 Cases & a Review of the Literature
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The Thyroid Gland:Its Relationship to Neurology
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Adult Toxoplasmosis Presenting as Polymyositis & Cerebellar Ataxia
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A 24-Year-Old Man with Spastic Ataxia and Hypodontia
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Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
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Neuroimaging Features of Biotinidase Deficiency
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Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
A 47-Year-Old Man With an Upper Respiratory Infection, Acute Confusion, Dysarthria, and Ataxia
Neurol 100:978-983, Kubicki,K.,et al, 2023
An 82-Year-Old Woman with Subacute Ophthalmoparesis and Ataxia
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Neurologic Complications of Babesiosis, United States, 2011-2021
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A 48-Year-Old Man With Spasticity and Progressive Ataxia
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More Than a Little Unsteady
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An 8-Year-Old with Acute Onset Ataxia
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
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Nonalcoholic Wernicke Encephalopathy
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