Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Risk of Parkinson Disease Among Service Members at Marine Corps Base Camp Lejeune
JAMA Neurol 80:673-681, Goldman,S.M.,et al, 2023
A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
Neurol 93:557-561, Urso, D.,et al, 2019
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1107, Ropper, A.H.,et al, 2014
Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006
Genetics of Parkinsons Disease and Parkinsonism
Ann Neurol 60:389-398, Hardy,J.,et al, 2006
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
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
Ann Neurol 50:812-815, Shan,D.,et al, 2001
Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000
Rapid-Onset Dystonia-Parkinsonism:Linkage to Chromosome 19q13
Ann Neurol 46:176-182, Kramer,P.L.,et al, 1999
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
Neurol 41:174-181, Nygaard,T.G.,et al, 1991
Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
Neurol 39:1446-1452, Farlow,M.R.,et al, 1989
Hereditary Dystonia-Parkinsonism Syndrome of Juvenile Onset
Neurol 36:1424-1428, Nygaard,T.C.&Duvoisin,R.C., 1986
Parkinson's Disease
BMJ 293:379-382, Quinn,N.P.&Husain,F.A., 1986
Late-Onset Hallervorden-Spatz Disease Presenting as Familial Parkinsonism
Neurol 35:227-234, Jankovic,J.,et al, 1985
Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
Ann Neurol 15:144-153, Plaitakis,A.,et al, 1984
Chediak-Higashi Syndrome
Arch Neurol 41:1001-1002, Pettit,R.E.,et al, 1984