Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Progressive Gait Deterioration in Adolescents with Dravet Syndrome
Arch Neurol 69:873-878, Rodda, J.M.,et al, 2012
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Tiagabine-Induced Myoclonic Status Epilepticus in a Nonepileptic Patient
Neurol 68:310, Vollmar,C. &Noachtar,S., 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
Clinical Correlations of Mutations in the SCN1A Gene: From Febrile Seizures to Severe Myoclonic Epilepsy in Infancy
Pediatr Neurol 30:236-243, Ceulemans,B.P.G.M.,et al, 2004
N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
Neurol 52:426-427, Selwa,L.M., 1999
Genetic Localization of the Familial Adult Myoclonic Epilepsy (FAME) Gene to Chromosome 8q24
Neurol 53:1180-1183, Plaster,N.M.,et al, 1999
CSF Antigliadin Antibodies and the Ramsay Hunt Syndrome
Neurol 49:1131-1133, Chinnery,P.F.,et al, 1997
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Ekbom's Syndrome:Lypomas, Ataxia, and Neuropathy with MERRF
Muscle & Nerve 17:943-945994., Calabresi,P.,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
Juvenile Myoclonic Epilepsy, Underdiagnosed and Treatment May Have to be Life Long
BMJ 305:4-5, Timmings,P.L.&Richens,A., 1992
Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
Lancet 337:1311-1313, Hammans,S.R.,et al, 1991
Progressive Myoclonic Ataxia (The Ramsay Hunt Syndrome)
Arch Neurol 47:1121-1125, Marsden,C.D.,et al, 1990
Juvenile Myoclonic Epilepsy:An Autosomal Recessive Disease
Ann Neurol 25:440-443, Panayiotopoulos,C.P.&Obeid,T., 1989
Hereditary Dentatorubral-Pallidoluysian Atrophy:Clinical and Pathologic Variants in a Family
Neurol 38:1065-1070, Takahashi,H.,et al, 1988
Progressive Myoclonus Epilepsies:Specific Causes & Diagnosis
NEJM 315:296-305, Berkovic,S.F.,et al, 1986
Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985
Dialysis Encephalopathy, Clinical, Electroencephalographic & Interventional Aspects
Medicine 62:129-141, O'Hare,J.A., 1983
Juvenile Neuroaxonal Dystrophy:Clinical, Electrophysiological, & Neuropathological Features
Ann Neurol 3:419, Dorfman,L.J.,et al, 1978
Chronic Progressive Panencephalitis due to Rubella Virus Simulating Subacute Sclerosing Panencephalitis
NEJM 292:994-998,1023, Weil, M.L.,et al, 1975