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Filter Applied: genetic neurologic disorders (Click to remove)

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004

A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024

Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023

A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022

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

Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015

Parkinson Disease Subtypes
JAMA 71:499-504, Thenganatt, M. & Jankovic, J., 2014

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

Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
Neurol 69:2093-2104, Klein,C. &Schlossmacher,M.G., 2007

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

Parkinsons Disease and Genetics
The Neurologist 12:240-244, Lester,J.&Otero-Siliceo,E., 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

Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003

Complete Genomic Screen in Parkinson Disease
JAMA 286:2239-2244, Scott,W.K.,et al, 2001

Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
Ann Neurol 50:812-815, Shan,D.,et al, 2001

Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
NEJM 342:1560-1567, Lucking,C.B.,et al, 2000

Niemann-Pick Disease Type C: Two Cases and an Update
Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000

Parkinson Disease in Twins,An Etiologic Study
JAMA 281:341-346,376, Tanner,C.M.,et al, 1999

Rapid-Onset Dystonia-Parkinsonism:Linkage to Chromosome 19q13
Ann Neurol 46:176-182, Kramer,P.L.,et al, 1999

Hereditary Form of Parkinsonism-Dementia
Ann Neurol 43:768-781, Muenter,M.D.,et al, 1998

Parkinson's Disease
NEJM 339:1044-1053,1130-1143, Lang,A.E.&Lozano,A.M., 1998

A Gene for Parkinson Disease
Arch Neurol 54:1156-1157, Chase,T.N., 1997

A Gene for Parkinson's Disease
BMJ 313:1278, Hawkes,C., 1996

Clinical Genetic Analysis of Parkinson's Disease in the Contursi Kindred
Ann Neurol 40:767-775, Golbe,L.I.,et al, 1996

Kindreds of Dominantly Inherited Parkinson's Disease:Keys to the Riddle
Ann Neurol 38:355-356, Duvoisin,R.C.&Golbe,L.I., 1995

A Greek-American Kindred with Autosomal Dominant, Levodopa-Responsive Parkinsonism and Anticipation
Ann Neurol 38:373-378, 3551995., Markopoulou,K.,et al, 1995

Increased Risk of Parkinson's Disease in Parents and Siblings of Patients
Ann Neurol 36:659-661, Payami,H.,et al, 1994

Identical Twins with Similar Onset of Parkinson's Disease:A Case Report
Neurol 43:1159-1161, Pahwa,R.,et al, 1993

GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992

Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992

Parkinson's Disease in Twins
Neurol 42:1453-1461, Vieregge,P.,et al, 1992

Essential Tremor:Clinical Correlates in 350 Patients
Neurol 41:234-238, Lou,J.&Jankovic,J., 1991

Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
Neurol 41:174-181, Nygaard,T.G.,et al, 1991

The Phenotype of the X-Linked Dystonia-Parkinsonism Syndrome, An Assessment of 42 Cases in the Philippines
Medicine 70:179-187, Lee,J.V.,et al, 1991

Preclinical Detection of Parkinson's Disease
Neurology Suppl 2, 41:5-921991., Koller,W.C.&Langston,J.W., 1991

Dopa-Responsive Dystonia:The Spectrum of Clinical Manifestations in a Large North American Family
Neurol 40:66-69, Nygaard,T.G.,et al, 1990

A Large Kindred with Autosomal Dominant Parkinson's Disease
Ann Neurol 27:276-282, Golbe,L.I.,et al, 1990

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

Familial Parkinsonism, Apathy, Weight Loss & Central Hypoventilation:Successful Long-Term Management
Neurol 38:637-639, Roy,E.P.,et al, 1988

Parkinson's Disease in a Nationwide Twin Cohort
Neurol 38:1217-1219, Marttila,R.J.,et al, 1988

On Heredity, Twins, & Parkinson's Disease
Ann Neurol 19:409-411, Duvoisin,R.C., 1986

Parkinson's Disease in Monozygotic Twins
Ann Neurol 19:405-408, Jankovic,J.&Reches,A., 1986

Monozygotic Twins with Parkinson's Disease
Ann Neurol 19:402-405, Koller,W.,et al, 1986



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