A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Essential Tremor
NEJM 378:1802-1810, Haubenberger, D.,et al, 2018
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Degenerative Diseases of the Nervous System, Parkinson Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007
GAMT Deficiency: Features, Treatment, and Outcome in an Inborn Error of Creatine Synthesis
Neurol 67:480-484, Mercimek-Mahmutoglu,S.,et al, 2006
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Diagnosis and Treatment of Wilson's Disease
Semin Neurol 19:261-270, Brewer,G.J.,et al, 1999
Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996
The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
Neurol 45:1739-1743, Shulman,L.M.,et al, 1995
Cerebral Involvement in McLeod Syndrome
Neurol 44:117-120, Danek,A.,et al, 1994
The Relationship of Essential Tremor to Other Movement Disorders:Report on 678 Patients
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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
Neurol 41:174-181, Nygaard,T.G.,et al, 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
Arch Neurol 43:677-680, Mito,T.,et al, 1986
Biochemical Evidence Of Dysfunction Of Brain Neurotransmitters In The Lesch-Nyhan Syndrome
NEJM 305:1106-1111, Lloyd,K.G.,et al, 1981
Familial Idiopathic Cerebral Calcifications
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
Clinicopathologic Conference, Factitious Disorder
NEJM 388:1609-1615, Case 13-2023, 2023
Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
Neurol 101:46-49, deGusmao,C.M.,et al, 2023
Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
Neurol 101:e1884-e1892, van der Veen,S.,et al, 2023
A 77-Year-Old Man with Involuntary Movements, Sleep Changes, Falls, Bulbar Symptoms, and Cognitive Complaints
Neurol 99:26-30, Cao, T.Q.,et al, 2022
Inconsistency and Incongruence: The Two Diagnostic Pillars of Functional Movement Disorder
Lancet 400:328, Hess, C.H.,et al, 2022
Functional Neurological Disorders
Neurologist 27:276-289, Mishra, A. & Pandey, S., 2022
Vitamin B12 Deficiency in a 29-Year-Old Woman
Neurol 97:e643-e646, Huddar, A.,et al, 2021
A 55-Year-Odd Man with Old Behavior and Abnormal Movements
Neurol 97:1090-1093, McIntosh, P. & Scott, B., 2021
Telemedicine in Neurology
Neurol 94:30-38,16, Hatcher-Martin, J.M.,et al, 2020
A Rare Presentation of Whipple Disease
Neurol 94:e758-e761, Koek, A.T.,et al, 2020
Psychogenic Paroxysmal Hemifacial Spasm
Ann Neurol 88:14-15, Park, J.E., 2020
A Young Generalized Dystonia Patient with Globus-Pallidus-Specific Lesion
Ann Neurol 88:637-638, Wu, H.,et al, 2020
Muscle Stiffness, Gait Instability, and Liver Cirrhosis in Wilsons Disease
Lancet 396:990, Kronlage, C.,et al, 2020
Clinical features, prognostic factors, and antibody effects in anti-mGluR1 encephalitis
Neurol 95:e3012-e3025, Spatola, M.,et al, 2020
Chronic Dengue Virus Panencephalitis in a Patient with Progressive Dementia with Extrapyramidal Features
Ann Neurol 86:695-703, Johnson, T.P.,et al, 2019
Antibody-Mediated Encephalitis
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