A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
Early-Onset Head Titubation in a Child with Poretti-Boltshauser Syndrome
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
JNNP 65:427-431, Hanna,M.G.,et al, 1998
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Olivopontocerebellar Atrophy with Dementia, Blindness, & Chorea, Response to Baclofen
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Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
Ann Neurol 10:355-363, Colan,R.V.,et al, 1981
Kearns-Sayre Syndrome with Hypoparathyroidism
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An 82-Year-Old Woman with Subacute Ophthalmoparesis and Ataxia
Neurol 101:e570-e575, Rodrigo-Gisbert,M.,et al, 2023
A 67-Year-Old Woman with Progressive Diplopia, Vertigo, and Ataxia
Neurol 98:e669-e674, Sakoda, M.,et al, 2022
A Dizzy Architect
Neurol 98:543-549, Scutelnic, A.,et al, 2022
A 48-Year-Old Woman Presenting with Vertigo, Ptosis, and Red Eyes
Neurol 98:678-683, Kim, K.T.,et al, 2022
Miller Fisher Syndrome and Acute Motor and Sensory Axonal Neuropathy (AMSAN) Variant Guillain-Barre Overlap Syndrome (MFS/AMSAN-GBS) After Upper Respiratory Tract Infection (URTI)
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Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Nonalcoholic Wernicke Encephalopathy
Neurol 97:e1541-e1542, Hansen, G.,et al, 2021
Immunocompetent Patient with Multiple Cranial Nerve Palsies, Ataxia, and Cognitive Decline
Neurol 94:e225-e229, Nigam, M.,et al, 2020
Palatal Myoclonus, Abnormal Eye Movements, and Olivary Hypertrophy in GAD65-Related Disorder
Neurol 94:273-275, Macaron, G.,et al, 2020
Progressive Ataxia and Palatal Tremor
Neurol 94:e1445-e1447, Pradeep, S.,et al, 2020
A 16-year-old Girl with Ataxia, Oscillopsia, and Behavioral Changes
Neurol 94:713-717, Silverman, A.,et al, 2020
An Adolescent Girl Presenting with Worsening Vertigo, Headache, and Ataxia
Neurol 95:e1760-e1763, Brigham, E.,et al, 2020
Relapsing-Remitting Severe Bickerstaffs Brainstem Encephalitis
BMJ 394:684, Tyrakowska, Z.,et al, 2019
Bilateral Claude Syndrome
Neurol 93:599-600, Witsch, J.,et al, 2019
Clinicopathologic Conference, Creutzfeldt-Jakob Disease
NEJM 381:1569-1578, Case 32-2019, 2019
A 35-year-old Woman with Diplopia, Ataxia, and Altered Mental Status
Neurol 91:e1942-e1946, Bauer, Z.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Clinical Manifestations of the anti-IgLON5 Disease
Neurol 88:1736-1743,1688, Gaig, C.,et al, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
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Wernekink Commissure Syndrome Secondary to Bilateral Caudal Paramedian Midbrain Infarction Presenting with a Unique "Heart or V" Appearance Sign:Case Report and Review of the Literature
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Acute Bulbar Palsy as a Variant of Guillain-Barre Syndrome
Neurol 86:742-747, Kim, J.K.,et al, 2016
Reversible Cognitive Decline Diagnosed on Ear Examination
BMJ 352:e1215, Ellis, R.J.B.,et al, 2016
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Wernicke-Korsakoff Syndrome (Thiamine B1) Deficiency
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Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin E Deficiency
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Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Legionella
Adams & Victors Principles of Neurology, Chp 32, pg 709, Ropper, A.H.,et al, 2014
Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Whipple Disease
Adams & Victors Principles of Neurology, Chp 32, pg 710, Ropper, A.H.,et al, 2014
Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Neurosyphilis
Adams & Victors Principles of Neurology, Chp 32, pg 723, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1107, Ropper, A.H.,et al, 2014
Central Nervous System Involvement in Whipple Disease
Medicine 92:324-330, Compain, C.,et al, 2013
Miller Fisher Syndrome with Positivity of Anti-GAD Antibodies
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The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
A Rare Cause of Gait Ataxia
Lancet 378:1274, Rous, C.,et al, 2011
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Cogan Syndrome
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