Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Degenerative Diseases of the Nervous System, Alzheimer Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1063, Ropper, A.H.,et al, 2014
Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
Ann Neurol 36:368-378, Lampe,T.H.,et al, 1994
Gerstmann-Straussler-Scheinker Disease, I, Extending the Clinical Spectrum
Neurol 39:1446-1452, Farlow,M.R.,et al, 1989
Dementia in Down's Syndrome:Cerebral Glucose Utilization, Neuropsychological Assessment, and Neuropathology
Neurol 38:938-942, Schapiro,M.B.,et al, 1988
Mutation in Cystatin C Gene Causes Hereditary Brain Hemorrhage
Lancet 2:603-604, Palsdottir,A.,et al, 1988
Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
Arch Neurol 45:1118-1122, Uitti,R.J.,et al, 1988
Cerebral Amyloid Angiopathy, A Critical Review
Stroke 18:311-324, Vinters,H.V., 1987
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Alzheimer's Disease
NEJM 314:964-973, Katzman,R., 1986
Gerstmann-Straussler-Scheinker Disease:Autopsy Study of a Familial Case
Ann Neurol 20:540-543, Vinters,H.V.,et al, 1986
Abnormal Metabolism of y-Trace Alkaline Microprotein
NEJM 311:1547-1549, Grubb,A.,et al, 1984
Gerstmann-Straussler-Scheinker Disease with Coincidental Familial Onset
Ann Neurol 14:670-678, Hudson,A.J.,et al, 1983
Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Ribbon-Like Sign in Convexity Subarachnoid Hemorrhage
Ann Neurol 99:881-882, Liu,S-X.,et al, 2026
A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025
Rapidly Progressive Frontotemporal Dementia with Amytrophic Lateral Sclerosis in an Elderly Female
Cureus doi:10.7759/CUREUS.32182, Sweedan,Y.G.,et al, 2025
Adult-Onset Coats Plus, A Case of Leukoencephalopathy with Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease
Neurol 105:e214124, Gerrao,C.,et al, 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025
Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
Neurol 102:e209385, Nishida,K.,, 2024
A 24-Year-Old Man with Spastic Ataxia and Hypodontia
JAMA Neurol 81:658-659, Marien,L.,et al, 2024
A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
Neurol 103:e2098-e2030, Jones,F.J.S. & Orthmann-Murphy,J., 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
NEJM 391:1015-1027, Al-Samkari,H.,et al, 2024
A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
Neurol 103:e209796, Bouchart,J.,et al, 2024
RNF213 Polymorphisms in Intracranial Artery Dissection
Genes doi.org/10.3390/genesis 15060725, Zedde,M.,et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Unilateral Leukoencephalopathy Revealing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Ann Neurol 91:889-890, Gollion, C.,et al, 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
"Disappearing Infarct" Is Late-Onset MELAS
Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021
A 25-year-old Woman with Recurrent Episodes of Collapse and Loss of Consciousness
Neurol 94:994-999, Wildman, J.,et al, 2020
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution
AJNR 41:167-173, Bhatia,K.D.,et al, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019