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Biochemical Genetics Of Neurologic Disease
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Neuropathology of Sanfilippo Syndrome
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Genetic Counseling in Retinitis Pigmentosa
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Inebilizumab for Treatment of IgG4-Related Disease
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Beyond Glucocorticoids for IgG4-Related Disease
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"Innumerable" lesion burden on brain MRI - a diagnostic approach
Diagnosis doi.org/10.1515/dx- 2025-2029, Finelli,P.F., 2025
A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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Clinical Presentation, Investigation Findings, and Outcomes of IgG4-Related Pachymeningitis,A Systematic Review
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Clinicopathologic Conference, Vitamin B12 Deficiency Due to Pernicious Anemia
NEJM 390:747-756, Case 6-2024, 2024
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
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Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
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A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Leptomeningitis with Communicating Hydrocephalus in an Immunocompromised Patient with Disseminated Sporotrichosis
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Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
MR Imaging Findings in Anti-Leucine-Rich Glioma Inactivated Protein 1 Encephalitis:A Systematic Review and Meta-Analysis
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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
An Unusual Etiology of Lumbosacral Plexopathy in a Patient with HIV
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A 22-Year-Old Woman with Episodic Weakness and Jaundice
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IgG4-Related Orbital Inflammation
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Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
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Pathogenesis and Clinical Manifestations of IgG4-Related Disease
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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
Severe Hippocampal Atrophy in a Patient with Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy
JAMA Neurol 80:642-643, Bartels,F.,et al, 2023
Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
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Neurologic Manifestations of Long COVID Differ Based on Acute COVID-19 Severity
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Clinicopathologic Conference, Noncirrhotic hyperammonemia after Roux-en-Y Gastric Bypass
NEJM 389:1221-1230, Case 30-2023, 2023
Clinicopathologic Conference, Antiphospholipid Syndrome due to SLE with Hypocomplimentemia
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Tuberous Sclerosis Complex:Clinical Features
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Rapidly Progressive Dementia in a Man With HIV Infection and Undetectable Plasma Viral Load
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Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Hyperpigmentation in Vitamin B12 Deficiency
NEJM 386:172, Sherman, S.V., 2022
Association Between Occupational Exposure to Formaldehyde and Cognitive Impairment
Neurol 98:e633-e640, Letellier, N.,et al, 2022
Clinicopathologic Conference, Diffuse Large B-Cell Lymphoma
NEJM 386:977-986, Case 7-2022, 2022
Toward Simpler, Safer Treatment of Cryptococcal Meningitis
NEJM 386:1179-1181, Moosa, M.Y.S. & Lessells, R.J., 2022
Use of Marijuana: Effect on Brain Health: A Scientific Statement from the American Heart Association
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A 51-Year-Old Woman with Diplopia and Headache
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Neuroimaging Biomarkers in a Patient with Probable Psychiatric-Onset Prodromal Dementia with Lewy Bodies
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Severe Vitamin B12 Deficiency Presenting as Pancytpenia, Hemolytic Anemia, and Parasthesia:Could Your B12 Be Any Lower?
Cureus doi:10.7759/cureus 29225, Pelling,M.M., et al, 2022
Cases with IgG4-related Ophthalmic Disease with Mass Lesions Surrounding the Optic Nerve
Am J Ophthalmol 25:101324, Hamaoka, S.,t al, 2022
Diagnosis of Delirium and Confusional States
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