Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Benign Tremulous Parkinsonism
Arch Neurol 63:354-357,321, Josephs,K.A.,et al, 2006
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
Recessive Ataxia With Ocular Apraxia
Arch Neurol 58:201-205,173, Barbot,C.,et al, 2001
Spinocerebellar Ataxia Type 8
Neurol 55:649-657, Day,J.W. et al, 2000
CAG Repeat Number Correlates with the Rate of Brainstem and Cerebellar Atrophy in Machado-Joseph Disease
Neurol 51:882-884, Abe,Y.,et al, 1998
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Clinicopathological Study of 35 Cases of Multiple System Atrophy
JNNP 58:160-166, Wenning,G.K.,et al, 1995
Initial and Follow-up Brain MRI Findings and Correlation with the Clinical Course in Wilson's Disease
Neurol 44:1064-1068, Roh,J.K.,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
Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Idiopathic Cerebellar Ataxia of Late Onset:Natural History and MRI Morphology
JNNP 53:297-305, Klockgether,T.,et al, 1990
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Congenital and Acquired Chiari Syndrome
NEJM 390:2191-2198, Friedlander,R.M., 2024
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Posterior Reversible Encephalopathy Syndrome
NEJM 388:2171-2178, Geocadin,R.G., 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
MR Imaging Patterns and Prognosis in Powassan Virus Encephalitis
Neurologist doi.10.1097/NRI.0000000000000533, Finelli,P.F., 2023
CHANTER Syndrome
Neurol 101:e2338-e2339, Rizkallah,B. & Rubin,D.B., 2023
Neuroimaging Findings in CHANTER Syndrome
AJNR 43:1136-1141, Mallikarjun, K.S.,et al, 2022
Amyotrophic Lateral Sclerosis
Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Posterior Circulation Alberta Stroke Program Early Computed Tomography Score (pc-ASPECT) for the Evaluation of Cerebellar Infarcts
Neurologist 6:304-308, Altiparmak, T.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
A 16-year-old Girl with Ataxia, Oscillopsia, and Behavioral Changes
Neurol 94:713-717, Silverman, A.,et al, 2020
Spontaneous Intracranial Hypotension: Atypical Radiologic Appearances, Imaging Mimickers, and Clinical Look-Alikes
AJNR 41:1339-1347, Bond, K.M.,et al, 2020
Clinical features, prognostic factors, and antibody effects in anti-mGluR1 encephalitis
Neurol 95:e3012-e3025, Spatola, M.,et al, 2020
Fibromuscular Dysplasia and Its Neurologic Manifestations
JAMA Neurol 76:217-226, Touze, E.,et al, 2019
Relapsing-Remitting Severe Bickerstaffs Brainstem Encephalitis
BMJ 394:684, Tyrakowska, Z.,et al, 2019
Stridor in Multiple System Atrophy
Neurol 93:630-639, Cortelli, P.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Three-year Follow-up of Prospective Trial of Focused Ultrasound Thalamotomy for Essential Tremor
Neurol 93:e2284-e2293, Halpern, C.H.,et al, 2019
Posterior Circulation Thrombectomy - Pc-ASPECT Score Applied to Preintervention Magnetic Resonance Imaging Can Accurately Predict Functional Outcome
World Neurosurg 129:e566-e571, Khatibi, K.,et al, 2019
A 60-year-old man with arm weakness and numbness
Neurol 90:190-196, Foster, L.A.,et al, 2018
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Brain Imaging in Cases with Positive Serology for Dengue with Neurologic Symtoms: A Clinicoradiologic Correlation
AJNR 39:699-703, Vanjare, H.A.,et al, 2018
Review of the Neurological Implications of von Hippel-Lindau Disease
JAMA Neurol 75:620-627, Dornbos, D.,et al, 2018
Acute Viral Encephalitis
NEJM 379:357-366, Tyler,K.L., 2018
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
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017