A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
NEJM 391:1015-1027, Al-Samkari,H.,et al, 2024
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
Recurrent Cerebral Ischemia During Pregnancies
Neurol 95:e2453-e2457, Bulwa, Z.,et al, 2020
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
Adams & Victors Principles of Neurology, Chp 30, pg 628, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Parkinson Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1082, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Hereditary Spastic Paraplagia
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Update on the Natural History of Cavernous Malformations and Factors Predicting Aggressive Clinical Presentation
Neurosurg Focus 29:E7, Washington,C.W.,et al, 2010
Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009
Autonomic Peripheral Neuropathy
Lancet 365:1259-1270, Freeman,R., 2005
Clinical Features and Neuropathology of Autosomal Dominant Spinocerebellar Ataxia (SCA17)
Ann Neurol 43:367-375, Rolfs,A.,et al, 2003
Familial Dementia With Lewy Bodies
Arch Neurol 59:1622-1630, Tsuang,D.W.,et al, 2002
Familial Infantile Bilateral Striatal Necrosis
Neurol 59:983-989, Straussberg,R.,et al, 2002
Autosomal Dominant Diffuse Leukoencephalopathy with Neuroaxonal Spheroids
Neurol 54:463-468, van der Knaap,M.S.,et al, 2000
Association Between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
NEJM 342:1560-1567, Lucking,C.B.,et al, 2000
Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
Clin Inf Dis 30:336-341, Lamas, C.C. & Eykyn, S.J., 2000
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Hereditary Form of Parkinsonism-Dementia
Ann Neurol 43:768-781, Muenter,M.D.,et al, 1998
CADASIL in a North American Family:Clinical, Pathological, and Radiologic Findings
Neurol 51:844-849, Desmond,D.W.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
Ann Neurol 41:150-159, Heutnik,P.,et al, 1997
Bent Spine Syndrome
JNNP 60:51-54, Serratrice,G.,et al, 1996
Clinical, Neuroimaging, and Pathologic Features of Progressive Nonfluent Aphasia
Ann Neurol 39:166-173, Turner,R.S.,et al, 1996
Progressive Familial Leukodystrophy of Late Onset
Neurol 46:429-434, Knopman,D.,et al, 1996
Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
Hereditary Spastic Paraplegia:Advances in Genetic Research
Neurol 46:1507-1514, Fink,J.K.,et al, 1996
Tourette's Syndrome:A Model Neuropsychiatric Disorder
JAMA 273:498-501, Hyde,T.M.&Weinberger,D.R., 1995
Autosomal Dominant, Familial Spastic Paraplegia, Type I:Clinical and Genetic Analysis of a Large North American Family
Neurol 45:325-331, Fink,J.K.,et al, 1995
X-Linked Pure Familial Spastic Paraparesis
Arch Neurol 52:665-669, Cambi,F.,et al, 1995
Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
Lancet 1458-1463, Barrett,T.G.,et al, 1995
Hereditary Adult-Onset Alexander's Disease with Palatal Myoclonus, Spastic Paraparesis and Cerebellar Ataxia
Neurol 45:2266-2271, Schwankhaus,J.D.,et al, 1995
Anticonvulsant Hypersensitivity Syndrome
Arch Int Med 155:2285-2290, Vittorio,C.C.&Muglia,J.J., 1995
Clin & Path Features of an Autosomal Dominant, Adult-Onset Leukodystrophy Simul Chronic Progressive MS
Arch Neurol 51:757-766, Schwankhaus,J.D.,et al, 1994
Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
Ann Neurol 36:362-367, Haltia,M.,et al, 1994
Familial Progressive Subcortical Gliosis
Neurol 44:1633-1643, Lanska,D.J.,et al, 1994
Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
Ann Neurol 35:680-688, Davis,L.E.,et al, 1994
Autosomal Dominant Parkinsoniam with Benign Course and Typical Lewy-Body Pathology
Neurol 43:2222-2227, Golbe,L.I.,et al, 1993
Progressive Language Disorder Due to Lobar Atrophy
Ann Neurol 31:174-183, Snowden,J.S.,et al, 1992
Clinicopath Conf
Pick's Diseae, Case 6-1992, NEJM 326:397-405992., , 1992
Clinicopath Conf
Huntington's Diseae, Case2-1992, NEJM 326:117-125992., , 1992
Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
Neurol 42:312-319, Manetto,V.,et al, 1992