A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
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
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Short Stature, Imperforate Anus, and Polydactyly
Neurol 84:e117, Dumitrascu, O.,et al, 2015
Clinicopathologic Conference, Primitive Neuroectodermal Tumor of CNS, with Involvement of Thalamus, Medial Cerebral Cortex, Brainstem, Cerebellum and Subarachnoid Space
NEJM 372:1550-1562, Case 12-2015, 2015
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
A Prematurely Aging Patient Presenting with Severe Leukoaraiosis and Stroke
Neurol 78:e113-e114, Seixas,J.C.,et al, 2012
Clinical Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
An Unusual Case of Growth Retardation
Lancet 366:520, Faleschini,E.,et al, 2005
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
Vein of Galen Aneurysmal Malformation: Diagnosis and Treatment of 13 Children With Extended Clinical Follow-Up
AJNR 23:1717-1724, Jones,B.V.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
MR Brain Imaging of Fucosidosis Type I
AJNR 22:777-780, Galluzzi,P.,et al, 2001
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Accelerated Aging of the Brain in Werner's Syndrome
Neurol 42:922-924, Kakigi,R.,et al, 1992
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Craniopharyngyoma in Children
In Brain Tumors in Children, W B Saunders Co, Phila, Neurologic Clinics 9:453-46591., Sanford,R.A.&Muhbauer,S., 1991
Reversible Suprasellar Pituitary Mass Secondary to Hypothyroidism
JAMA 262:3175, 31771989., Atchison,J.A.,et al, 1989
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Congenital Titinopathy:Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Ann Neurol 97:611-628, Coppens,S.,et al, 2025
A 72-Year-Old Man With Meningoencephalitis
Neurol 104:e213658, Isaza-Pierotti,D.F.,et al, 2025
A 64-Year-Old Man with Confusion, Nausea, Seizure, and Fever
Neurol 104:e213659, Xu,A.,et al, 2025
A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025
In Utero MR Imaging for Fetuses with Small Head Sizes Without Intracranial Abnormalities Detected on Ultrasonography
AJNR 46:1917-1924, Griffiths,P.D.,et al, 2025
A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
Miyazaki Syndrome as a Complication of Shunt Drainage
Ann Neurol 96:1230-1231, vanLanen,R.H.G.J., et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Brain Calcification in a Young Woman With Seizures, Explore the Rare Differentials
Neurol 100:397-398, Menon,B.,et al, 2023
Salt and Pepper Sign, PLNTY for Drug-Resistant Epilepsy
Neurol 100:791-795, Paredes-Aragon,E.M.,et al, 2023
Iatrogenic Cerebral Amyloid Angiopaty Post Neurosurgery:Frequency, Clinical Profile, Radiological Features, and Outcome
Stroke 54:1214-1223, 1224, Kaushik,K.,et al, 2023
Drug Resistant Epilepsy in a 61-Year-Old Man with Abnormal MRI Brain Findings and Management with Vagal Nerve Stimulator
Neurol 100:1111-1116, Mankad,J.P. & Lavingia,J.R., 2023
Posterior Reversible Encephalopathy Syndrome
NEJM 388:2171-2178, Geocadin,R.G., 2023
Clinicopathologic Conference, Systemic Immunoglobulin Light-Chain (AL) Amyloidosis
NEJM 389:166-175, Case 21-2023, 2023
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
A 48-Year-Old Woman with 6 Months of Vivid Visual Hallucinations
Neurol 99:166-171, Kizza, J.,et al, 2022
Clinicopathological Conference, Chronic Candida Albicans Meningitis
NEJM 387:641-650, Case 25-2022, 2022
Reversible Parkinsonism Caused by Lumboperitoneal Shunt Overdrainage
Neurol 99:486-488, Takeuchi, H.,et al, 2022
Clinicopathologic Conference, Mycobacterium Tuberculosis Meningitis
NEJM 384:166-176, Case 1-2021, 2021
Lentiform Fork Sign in Metabolic Acidosis
Ann Neurol 89:188-189, Kumar, N. & Kumar, D., 2021
Acute Flaccid Myelitis: Cause, Diagnosis, and Management
Lancet 394:334-397, Murphy, O.C.,et al, 2021
Clinicopathologic Conference, Lympohplasmic Lymphoma of the CNS (Bing-Neel Syndrome)
NEJM 384:745-753, Case 6-2021, 2021
A Brewing Back Pain
NEJM 385:66-72, Pischel, L.,et al, 2021
A Middle-Aged Man with Progressive Gait Abnormalities
Neurol 97:e2423-e2428, Lin, J.,et al, 2021
Clinicopathologic Conference, Fat Embolism Syndrome
NEJM 385:2464-2474, Case 39-2021, 2021
CNS Demyelinating Attacks Requiring Ventilatory Support With Myelin Oligodendrocyte Glycoprotein or Aquaporin-4 Antibodies
Neurol 97:e1351-e1358, Zhao-Fleming,H.H.,et al, 2021