Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
Neurol 105:e214099, Mizutani,H.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
Clinical Presentation, Management, and Outcome in Neurolymphomatosis, A Systematic Review
Neurol 103:e209698, Kaulen.L.D.,et al, 2024
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,et al, 2024
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Progressive Hemiparesis and White Matter Abnormalities in an HIV-Negative Patient
Neurol 100:1156-1163, Jabbari,E.,et al, 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Clinicopathologic Conference, Plasm-Cell Myeloma Post-Transplant Lymphoproliferative Disorder
NEJM 386:2508-2516, Case 20-2022, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Controversy and Progress in Alzheimers Disease - FDA Approval of Aducanumab
NEJM 385:doi:10.1056/NEJMp2111320, Rabinovici, G.D., 2021
Vitamin B12 Deficiency in a 29-Year-Old Woman
Neurol 97:e643-e646, Huddar, A.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Pernicious Anaemia
BMJ 369:m1319, Mohamed, M.,et al, 2020
Personalized iPSC-Derived Dopamine Progenitor Cells for Parkinsons Disease
NEJM 382:1926-1932, Schweitzer, J.S.,et al, 2020
Liver Transplantation as a Rescue Therapy for Severe Neurologic Forms of Wilson Disease
Neurol 94:e2189-e2202, Poujois, A.,et al, 2020
A Woman with Monocular Vision Loss
Neurol 95:e1105-e1109, Danish, H.,et al, 2020
Polymyalgia Rheumatica and Giant Cell Arteritis
JAMA 324:993-994, Buttgereit, F.,et al, 2020
Muscle Stiffness, Gait Instability, and Liver Cirrhosis in Wilsons Disease
Lancet 396:990, Kronlage, C.,et al, 2020
A Teenager with Persistent Headache
Neurol 92:e1526-e1531, Hu, Y.,et al, 2019
Subacute Progressive Sensorimotor Symptoms
BMJ 365:doi:10.1136/bmj.l1923, Francis, A.,et al, 2019
Neurolymphomatosis
Neurol 93:e1229-e1230, DeBoer, S.R.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
Neurol 90:e172-e176, Roy, B. & Raynor, E., 2018
A 30-year-old man with headache and sleep disturbance
Neurol 90:e1535-e1540, English, S.W.,et al, 2018
Progressive Weakness and Memory Impairment in a Middle-aged Man
JAMA 320:197-198, DeFilippis, E.M.,et al, 2018
Congenital Myasthenic Syndromes in Adult Neurology Clinic
Neurol 91:e1770-e1777, Kao, J.C.,et al, 2018
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Diagnosis and Management of Dementia with Lewy Bodies
Neurol 89:88-100, McKeith, I.G.,et al, 2017
Clinopathologic Conference, Celiac Disease
NEJM 374:1875-1883, Case 14-2016, 2016
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
A 56-year-old Man with Cognitive Impairment and Difficulty Tying his Necktie
Neurol 85:e116-e122, Baker, J.M.,et al, 2015
Non-Alzheimers Dementia 2 Lewy Body Dementias
Lancet 386:1683-1697, Walker, Z.,et al, 2015
Limbic Encephalitis Associated with Anti-Voltage-Gated Potassium Channel Complex Antibodies Mimicking Creutzfeldt-Jakob Disease
JAMA Neurol 71:79-82, Yoo,J.Y. & Hirsch, L.J., 2014
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Polycythemia Vera Presenting with Ischemic Strokes in Multiple Arterial Territories
Neurol 82:e168-e170, Billakota, S. & Husseini, N.E., 2014
Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014
A 47-year-old Woman with Left Shoulder Pain after a Fall
Neurol 83:e112-e116, Jerath, N.U.,et al, 2014