Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
A 66-Year-Old Woman With Progressive Encephalopathy and Bilateral Hearing Loss
Neurol 100:254-258, Rivers,D.,et al, 2023
Movement Disorders in Patients with Genetic Developmental and Epileptic Encephalopathies
Neurol 101:e1884-e1892, van der Veen,S.,et al, 2023
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
JAMA Neurol 73:888-890, Kawarai, T.,et al, 2016
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Disorders of the Nervous System Caused by Drugs, Toxins, and Chemical Agents, Cocaine
Adams & Victors Principles of Neurology Chp 43, pg 1213, Ropper, A.H.,et al, 2014
Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013
Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
Neurol 78:e72-e76, Blackburn,J.S. and Cirillo,M.L., 2012
Hashimoto Encephalopathy
Neurol 78:e134, Afshari, M.,et al, 2012
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., et al, 2007
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006
Post-Stroke Movement Disorders; Report of 56 Patients
JNNP 75:1568-1574, Alarcon,F.,et al, 2004
The Neurological Masquerade of Intravascular Lymphomatosis
Arch Neurol 59:439-443, Beristain,X.&Azzarelli,B., 2002
Clinical Features of Nipah Virus Encephalitis Among Pig Farmers in Malaysia
NEJM 342:1229-1235, Goh,K.J.,et al, 2000
N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
Neurol 52:426-427, Selwa,L.M., 1999
Localization of a Gene for Myoclonus-Dystonia to Chromosome 7q21-q31
Ann Neurol 46:794-798, Nygaard,T.G.,et al, 1999
Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
Delayed-Onset Progressive Movement Disorders after Static Brain Lesions
Neurol 46:68-74, Scott,B.L.,et al, 1996
Creutzfeldt-Jakob Disease in a Young Woman
Lancet 347:945-948, Tabrizi,S.J.,et al, 1996
Clinical and Genetic Studies of Fatal Familial Insomnia
Neurol 45:1068-1075, Reder,A.T.,et al, 1995
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
The Relationship of Essential Tremor to Other Movement Disorders:Report on 678 Patients
Ann Neurol 35, 717-7231994., Koller,W.C.,et al, 1994
Familial Alzheimer's Disease
Ann Neurol 36:335-336, Bird,T.D., 1994
Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
Ann Neurol 36:368-378, Lampe,T.H.,et al, 1994
Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
Ann Neurol 36:362-367, Haltia,M.,et al, 1994
Progr Myoclonus Epilepsy of Unverricht-Lundborg Type:Clin & Molecular Genetic Study from US 4 Affected Sibs
Neurol 43:2284-2286, Lehesjoki,A.E.,et al, 1993
Fatal Familial Insomnia, A Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
NEJM 326:444-449, Medori,R.,et al, 1992
Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
Neurol 42:312-319, Manetto,V.,et al, 1992
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
The Role of Hypotension in Septic Encephalopathy Following Surgical Procedures
& Stevens, M. , Arch Neurol 49:653-656., Wijdicks,E.F.M., 1992
Juvenile Myoclonic Epilepsy, Underdiagnosed and Treatment May Have to be Life Long
BMJ 305:4-5, Timmings,P.L.&Richens,A., 1992
MRI Demonstration of Cortical Laminar Necrosis and Delyaed White Matter Injury in Anoxic Encephalopathy
Neuroradiology 32:319-321, Sawada,H.,et al, 1990
Familial Alzheimer's Disease with Myoclonus and'Spongy Change'
Arch Neurol 45:1097-1100, Duffy,P.,et al, 1988
Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
Neurol 38:1065-1070, Takahashi,H.,et al, 1988
Familial Myoclonic Dementia Masquerading as Creutzfeldt-Jakob Disease
Ann Neurol 20:231-239, Little,B.W.,et al, 1986
Fatal Familial Insomnia & Dysautonomia with Selective Degeneration of Thalamic Nuclei
NEJM 315:997-1003, Lugaresi,E.,et al, 1986
Progressive Myoclonus Epilepsies:Specific Causes & Diagnosis
NEJM 315:296-305, Berkovic,S.F.,et al, 1986
Segmental Myoclonus Clinical and Pharmacologic Study
Arch Neurol 43:1025-1031, Jankovic,J.&Pardo,R., 1986
Treatment of Ocular Myoclonus with Valproic Acid
Ann Neurol 17:103-104, Lefkowitz,D.,et al, 1985
Lafora Disease:Diagnosis by Liver Biopsy
Ann Neurol 8:409-415, Nishimura,R.N.,et al, 1980