Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
Ann Neurol 62:347-355, Bonthius,D.J.,et al, 2007
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
A Progressive Syndrome of Autism, Dementia, Ataxia, & Loss of Purposeful Hand Use in Girls:Rett's Syndrome
Ann Neurol 14:471-491, Hagberg,B., 1983
Immunocompetent Patient with Multiple Cranial Nerve Palsies, Ataxia, and Cognitive Decline
Neurol 94:e225-e229, Nigam, M.,et al, 2020
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Inherited Metabolic Diseases of the Nervous System, Subacute Necrotizing Encephalopathy (Leigh Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014
Central Nervous System Involvement in Whipple Disease
Medicine 92:324-330, Compain, C.,et al, 2013
A Strange Case of Waitress Headache
Lancet 378:1824, Libera, D.D.,et al, 2011
Clinicopath Conf,Cerebral Amyloid Angiogpathy and Giant-Cell Inflammatory Reaction to Beta 4-Amyloid and Vasculitis, Case 10-2000
NEJM 342:957-965, , 2000
Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Susac Syndrome
Medicine 77:3-11, Papo,T.,et al, 1998
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Leukoencephalopathy with Swelling & A Discrepantly Mild Clinical Course in Eight Children
Ann Neurol 37:324-334, van der Knaap,M.S.,et al, 1995
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Management of Acoustic Neuroma
BMJ 311:1141-1144, Wright,A.&Bradford,R., 1995
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Neurologic Manifestations of Giant Cell Arteritis
Am J Med 89:67-72, Reich,K.A.,et al, 1990
Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
Arch Neurol 37:300-305, Sarnatt,H.B.,et al, 1980
Adult Onset of the Dandy-Walker Syndrome
Arch Neurol 35:672-674, Lipton,H.L.,et al, 1978
Neurologic Complications After Treatment for Whipple's Disease:A Report of Four Patients
Medicine 55:467, Knox,D.L.,et al, 1976
The Thyroid Gland:Its Relationship to Neurology
In Handbook of Clin Neurol, Vinken & Bruyn (Ed) , North Holland Publ Co, Amsterdam 27:255, Greene,R., 1976
Neurotoxicity of Commonly Used Antineoplastic Agents
NEJM 291:75, 1271974., Weiss,H.,et al, 1974
Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids:A Potentially Overlooked Diagnosis
Ann Neurol 95:407-409, Tsibonakis,A.,et al, 2024
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
An 82-Year-Old Woman with Subacute Ophthalmoparesis and Ataxia
Neurol 101:e570-e575, Rodrigo-Gisbert,M.,et al, 2023
A 67-YEar-Old Man with Multiple Intracranial Lesions
Neurol 101:e845-e851, Ngo,A.,et al, 2023
Neurologic Complications of Babesiosis, United States, 2011-2021
Emerg Inf Dis 29:1127-1135, Locke,S.,et al, 2023
A 48-Year-Old Woman Presenting with Vertigo, Ptosis, and Red Eyes
Neurol 98:678-683, Kim, K.T.,et al, 2022
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
A Triad of Tremor, Ataxia, and Cognitive Impairment
Neurol 96:e1802-e1803, Au, L.W.C.,et al, 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
An Adolescent Girl Presenting with Worsening Vertigo, Headache, and Ataxia
Neurol 95:e1760-e1763, Brigham, E.,et al, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Clinicopathologic Conference, Creutzfeldt-Jakob Disease
NEJM 381:1569-1578, Case 32-2019, 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Neuronal Intranuclear Inclusion Disease Showing Intranuclear Inclusions in Renal Biopsy 12 Years Earlier
Neurol 91:884-886, Motoki, M.,et al, 2018
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 2017