Familial Subacute Necrotizing Encephalomyelopathy of the Adult Form (Adult Leigh Syndrome)
Ann Neurol 6:200-206, Kalimo,H.,et al, 1979
A 45-Year-Old Man with Progressive Insomia and Psychiatric and Motor Symptoms
Neurol 94:e1213-e1218, Lima, J.E.E.,et al, 2020
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
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
Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998
CSF Antigliadin Antibodies and the Ramsay Hunt Syndrome
Neurol 49:1131-1133, Chinnery,P.F.,et al, 1997
Progressive Ataxia, Focal Seizures, and Malabsorption Syndrome in a 41 Year Old Woman
JNNP 60:225-230, Mumford,C.J.,et al, 1996
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
Neurol 38:1065-1070, Takahashi,H.,et al, 1988
Olivopontocerebellar Atrophy in Children:A Report of Seven Cases in Two Families
Ann Neurol 10:355-363, Colan,R.V.,et al, 1981
Juvenile Metachromatic Leukodystrophy
Arch Neurol 37:42-46, Haltia,T.,et al, 1980
Familial Chorea & Myoclonus Epilepsy
Neurol 28:913-919, Takahata,N.,et al, 1978
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
An Adolescent Girl Presenting with Worsening Vertigo, Headache, and Ataxia
Neurol 95:e1760-e1763, Brigham, E.,et al, 2020
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
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A 54-year-old woman with Dementia, Myoclonus, and Ataxia
Neurol 89:e7-e12, Ali, F.,et al, 2017
Leukodystrophy and Progressive Myoclonic Epilepsy Disclosing DRPLA
Neurol 86:e58-e59, Sgobbi de Souza, P.V.,et al, 2016
The Acquired Metabolic Disorders of the Nervous System, Hashimoto Encephalopathy (Steroid Responsive Encephalopathy Syndrome)
Adams & Victors Principles of Neurology Chp 40, pg 1155, Ropper, A.H.,et al, 2014
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Acute Encephalitis
Adams & Victors Principles of Neurology, Chp 33, pg 748, Ropper, A.H.,et al, 2014
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Creutzfeldt-Jakob Disease (Subacute Spongiform Encephalopathy)
Adams & Victors Principles of Neurology, Chp 33, pg 769, Ropper, A.H.,et al, 2014
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
Subacute Sclerosing Panencephalitis
www.MedLink.com, February, Auwaeter,P.G.&Johnson,R.T., 2013
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009
Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
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
Clinicopath Conf, Prion Disease (Sporadic Creutzfeldt-Jakob Disease)
NEJM 353:1042-1050, Case 27-2005, 2005
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
Neurol 58:983-984, Matsuura,T.,et al, 2002
Clinical Features and ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10
Arch Neurol 59:1285-1290, Grewal,R.P.,et al, 2002
Neurological Complications of Coeliac Disease
Postgrad Med J 78:393-398, Tengah, D.S.N.A.,et al, 2002
Gluten Sensitivity in Sporadic and Hereditary Cerebellar Ataxia
Ann Neurol 49:540-543, Bushara,K.O.,et al, 2001
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Hashimoto's Encephalitis as a Differential Diagnosis of Creutzfeldt-Jakob Disease
JNNP 66:172-176, Seipelt,M.,et al, 1999
N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
Neurol 52:426-427, Selwa,L.M., 1999
Dancing Eyes-Dancing Feet
Lancet 354:390, Imtiaz,K.E.&Vora,J.P., 1999
Neurologic Complications in Children with Enterovirus 71 Infection
NEJM 341:936-942, Huang,C-C.,et al, 1999
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998