A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
Neurol 89:2365-2373, Kuperus, E.,et al, 2017
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
A Patient with Psychiatric Illness and Multiple Hemorrhages
JAMA 322:2437-2438, Van Baalen, E.,et al, 2019
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Progressive Weakness and Memory Impairment in a Middle-aged Man
JAMA 320:197-198, DeFilippis, E.M.,et al, 2018
Clinicopathologic Conference, Vitamin C Deficiency (Scurvey), Vitamin B6 & Folate Deficiencies
NEJM 379:282-289, Case 22-2018, 2018
Clinicopathologic Conference, Copper Deficiency Myelopathy
NEJM 377:1977-1984, Case 35-2017, 2017
Polycythemia Vera Presenting with Ischemic Strokes in Multiple Arterial Territories
Neurol 82:e168-e170, Billakota, S. & Husseini, N.E., 2014
A Man with Tingling Fingers
BMJ 346:f1443, Larkman, M.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Autoimmune encephalitis
BMJ 342:d1918, Irani, S.R.,et all, 2011
Folic acid supplementation prevents phenytoin-induced gingival overgrowth in children
Neurol 76:1338-1343, Arya, R.,et al, 2011
Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
NEJM 352:1985-1991, Ramaekers,V.T.,et al, 2005
Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Intractable Epilepsy
Lancet 353:1238, Shuper,A.,et al, 1999
Folic Acid for the Prevention of Neural Tube Defects
Pediartrics 104:325-327, Committee on Genetics, 1999
Neural-Tube Defects
NEJM 341:1509-1519,1485, Botto,L.D.,et al, 1999
Bilateral Occipital Calcification Associated with Celiac Disease, Folate Deficiency & Epilepsy
AJNR 16:1498-1500, Lea,M.E.,et al, 1995
Folate Levels and Neural Tube Defects:Implications for Prevention
JAMA 274:1698-1702, 17171995., Daly,L.E.,et al, 1995
Does Carnitine Admin Inprove Symptoms Attributed to Anticonvulsant Meds? Double-Blinded Study
Pediatrics 93:893-895, 8911994., Freeman,J.M.,et al, 1994
Prevention of First Occur of Neural-Tube Defects by Periconceptional Vitamin Suppl
NEJM 327:1832-1835, 18751992., Czeizel,A.E.&Dudas,I., 1992
Prevention of Neural Tube Defects:Results of the Medical Research Council Vitamin Study
Lancet 338:131-137, 153-1541991., , 1991
Erythromelalgia:Review of Clinical Characteristics and Pathophysiology
Am J Med 91:416-422, Jurzrock,R.&Cohen,P.R., 1991
Valproic Acid for the Treatment of Children with Mental Retardation and Mood Symptomatology
Pediatrics 86:467-472, Kastner,T.,et al, 1990
Neuropsychiatric Disorders Caused by Cobalamin Deficiency in the Absence of Anemia or Macrocytosis
NEJM 318:1720-1728, 1752-17541988., Lindenbaum,J.,et al, 1988
The Clinical Spectrum of Alcoholic Pellagra Encephalopathy, A Retrospective Analysis of 22 Cases Studied Pathologically
Brain 111:829-842, Serdaru,M.,et al, 1988
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
Ann Neurol 21:230-231, 232-2391987., Rizzo,W.B.,et al, 1987
A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
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Efficacy and Safety of Sodium Oxybate in Isolated Focal Laryngeal Dystonia:A Phase IIb Double-Blind Placebo-Controlled Cross-Over Randomized Clinical Trial
Ann Neurol 97:329-343, Simonyan,K.,et al, 2025
Clinical Presentation, Investigation Findings, and Outcomes of IgG4-Related Pachymeningitis,A Systematic Review
JAMA Neurol 82:193-199, Terrim,S.,et al, 2025
Inebilizumab for Treatment of IgG4-Related Disease
NEJM 392:1168-1177, Stone,J.H.,et al, 2025
Beyond Glucocorticoids for IgG4-Related Disease
NEJM 392:1232-1233, Spiera,R., 2025
Anticoagulation or Antiplatelet Therapy for Device-Detected Atrial Fibrillation
NEJM 392:1749-1751, Gorey,S., 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Apixaban to Prevent Recurrence After Cryptogenic Stroke in Patients with Atrial Cardiopathy, The ARCADIA Randomized Clinical Trial
JAMA 331:573-581, Kamel,H.,et al, 2024
Posttransplant Anti-GABAA Receptor Antibody-Associated Autoimmune Encephalitis
Neurol 102:e209245, Togni,C.L.,et al, 2024
Clinicopathological Conference, Glutamic Acid Decarborylase 65 Autoantibody-Associated Stiff-Person Syndrome
NEJM 390:1712-1719, Case 14-2024, 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
Anticoagulation vs Antiplatelets Across Subgroups of Embolic Stroke of Undetermined Source
Neurol 103:e209949, Grannam,M.,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