The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
Long-Term Effects of Antidarsagene Autotemcel for Metachromatic Leukodystrophy
NEJM 392:1609-1620, Fumagalli,F.,et al, 2025
Bobble-Head Doll Syndrome in a Child
Neurol 104: e213694, Chityala,A.,et al, 2025
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
Risdiplam in Presymptomatic Spinal Muscular Atrophy
NEJM 393:671-682, Finkel,R.S.,et al, 2025
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Parkinsons Disease
NEJM 391:442-452, Tanner,C.M. & Ostrem,J.L., 2024
Clinicopathologic Conference, Nutritional Optic Neuropathy Due to Multiple Nutritional Deficits, Including Vitamin A, Copper, and Zinc Deficiencies
NEJM 391:641-650, Gaier,E.D.,et al, 2024
Neuroleptic Malignant Syndrome
NEJM 391:1130-1138, Wijdicks,E.F.M. & Ropper,A.H., 2024
Clinical Features, Diagnosis and Management of Klinefelter Syndrome
www.UptoDaate.com, Matsumoto,A.M. & Anawals,B.D., 2024
Safety and Efficacy of Staged, Bilateral Focused Ultrasound Thalamotomy in Essential Tremor, An Open-Label Clinical Trial
JAMA Neurol 81:939-946, Kaplitt,M.G.,et al, 2024
Trial of Globus Pallidus Focused Ultrasound Ablation in Parkinsons Disease
NEJM 388:683-693, 759, Krishna,V.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Trial of Botulinum Toxin for Isolated or Essential Head Tremor
NEJM 389:1753-1765, Marques,A.,et al, 2023
A 37-Year-Old Man with Involuntary Movements, Gait Disturbance, and Hyperasthesia
Neurol 98:851-853, Meng, D.,et al, 2022
Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis
Neurol 98:e2368-e2376, Molimard, A.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
The 5 Pillars in Tourette Syndrome Deep Brain Stimulation Patient Selection
Neurol 96:664-676, Martino, D.,et al, 2021
A 7-Year-Old Boy with Acute-Onset Altered Mental Status
Neurol 96:e2774-e2778, Wong, G.J.,et al, 2021
Vagus Nerve Stimulation and Seizure Outcomes in Pediatric Refractory Epilepsy
Neurol 96:1041-1051, Jain, P. & Arya, R., 2021
A 59-Year-Old Woman Presenting with Diplopia, Dysarthria, Right-sided Weakness, and Encephalopathy
Neurol 97:e859-e864, Manzano, G.S.,et al, 2021
Frequency and Characterization of Movement Disorders in Anti-IgLON5 Disease
Neurol 97:e1367-e1381, Gaig, C.,et al, 2021
Changing Gears - DBS for Dopaminergic Desensitization in Parkinsons Disease?
Ann Neurol 90:699-710, Weiss, D.,et al, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Acute Ischemic Stroke in Adolescents
Neurol 94:e158-e169, Rambaud, R.,et al, 2020
Feasibility, Safety, and Outcome of Endovascular Recanalization in Childhood Stroke
JAMA Neurol 77:25-34, Sporns, P.B.,et al, 2020
Diagnosis and Treatment of Parkinson Disease
JAMA 323:548-560, Armstrong, M.J. & Okun, M.S., 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
Deep Brain Stimulation in Early-Stage Parkinson Disease
Neurol 95:e393-e401,e431, Hacker, M.L.,et al, 2020
Nusinersen in Adult Patients with Spinal Muscular Atrophy
Neurol 95:e413-e416, Moshe-Lilie, O.,et al, 2020
Muscle Stiffness, Gait Instability, and Liver Cirrhosis in Wilsons Disease
Lancet 396:990, Kronlage, C.,et al, 2020
Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
Efficacy and Safety of Adjunctive Lacosamide in the Treatment of Primary Generalised Tonic-Clonic Seizures: A Double-Blind, Randomised, Placebo-Controlled Trial
JNNP 91:1067-1075, Vossler, D.G.,et al, 2020
Bobblehead-Doll Syndrome
NEJM 380:e5, Sacks, C.A., 2019
Management of Stroke in Neonates and Children
Stroke 50:e51-e96, Ferriero, D.M.,et al, 2019
Treatment of Tics in People with Tourette Syndrome and Chronic Tic Disorders
Neurol 92:896-906, Pringsheim, T.,et al, 2019
Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019
Tics and Functional Tic-Like Movements
Neurol 93:750-758, Ganos, C.,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
Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Efficacy and Safety of Deep Brain Stimulation in Tourette Syndrome
JAMA Neurol 75:353-359, Martinez-Ramirez, D.,et al, 2018
Essential Tremor
NEJM 378:1802-1810, Haubenberger, D.,et al, 2018
Congenital Myasthenic Syndromes in Adult Neurology Clinic
Neurol 91:e1770-e1777, Kao, J.C.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018