Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Clinicopatholigic Conference, Rheumatoid Arthritis with Vasculitis Causing A Confluent Mononeuritis Multiplex
NEJM 390:1312-1322, Case 11-2024, 2024
Clinicopathological Conference, Glutamic Acid Decarborylase 65 Autoantibody-Associated Stiff-Person Syndrome
NEJM 390:1712-1719, Case 14-2024, 2024
Clinicopathologic Conference, Paraneoplastic Vasculitis of the Central Nervous System
NEJM 388:747-757, Case 6-2023, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Clinicopathologic Conference, Systemic Immunoglobulin Light-Chain (AL) Amyloidosis
NEJM 389:166-175, Case 21-2023, 2023
Multidisciplinary End-of-Life Care for a Patient with Amyotrophic Lateral Sclerosis Requesting Euthanasia
Lancet 402:484, Kruithof,W.J.,et al, 2023
Clinical Features and Diagnosis of Intramedullary Spinal Cord Abscess in Adults, A Systematic Review
Neurol 101:e836-e844, Harrold,G.K.,et al, 2023
A 67-YEar-Old Man with Multiple Intracranial Lesions
Neurol 101:e845-e851, Ngo,A.,et al, 2023
A Woman With Multifocal Ischemic Strokes and Progressive Cognitive Impairment Due to Intravascular Lymphoma
Stroke 54:e488-e451, Stamm,B., et al, 2023
Clinicopathologic Conference, Noncirrhotic hyperammonemia after Roux-en-Y Gastric Bypass
NEJM 389:1221-1230, Case 30-2023, 2023
Clinicopathologic Conference,Limb-Shaking Transient Ischemia Attacks
NEJM 389:1416-1423, Case 31-2023, 2023
Clinicopathologic Conference, Antiphospholipid Syndrome due to SLE with Hypocomplimentemia
NEJM 389: 2277-2285, Case 38-2023, 2023
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
A 72-Year-Old Woman with Rapidly Progressive Bilateral Hearing Loss
Neurol 98:632-637, Alsalem, A.,et al, 2022
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
Clinicopathologic Conference, Granulomatosis with Polyangiitis
NEJM 387:1022-1032, Case 28-2022, 2022
A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
Neurol 99:997-1003, Chaity,D.K.,et al, 2022
Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 2022
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021
National Institute of Neurological Disorders and Stroke Consensus Diagnostic Criteria for Traumatic Encephalopathy Syndrome
Neurol 96:848-863, Katz, D.I.,et al, 2021
Headache, Cognitive Decline, and a Curious Rim-Enhancing Lesion
JAMA Neurol 78:613-614, Beaman, C.B.,et al, 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Clinicopathologic Conference, Cerebral Amyloid Angiopatny-Related Inflammation
NEJM 385:358-368, Case 22-2021, 2021
Anti-cN1A Antibodies are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis
Cells 10:1146, Lucchini,M.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Progressive Ataxia and Palatal Tremor
Neurol 94:e1445-e1447, Pradeep, S.,et al, 2020
A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020
Pernicious Anaemia
BMJ 369:m1319, Mohamed, M.,et al, 2020
Degenerative Cervical Spondylosis
NEJM 383:159-168, Theodore, N., 2020
Long Survival Sporadic Creutzfeldt-Jakob Disease
Neurol 95:87-88, Liu, X.Y.,et al, 2020
Clinical Characteristics, Risk Factors, and Outcomes of POEMS Syndrome
Neurol 95:e268-e279, Keddie, S.,et al, 2020
Clinicopathologic Conference, HIV Type 2 Infection & Cerebral Toxoplasmosis
NEJM 383:859-866, Case 27-2020, 2020
Clinicopathologic Conference, Borrelia Miyamotoi Infection
NEJM 383:1578-1586, Case 32-2020, 2020
A 73-Year-Old Man with Recurrent Aphasia, Headaches, and Confusion
Neurol 95:e2595-e2599, Bose, G.,et al, 2020
Clinicopathologic conference, Frontotemporal Lobar Degeneration with tau-positive inclusions consistent with Picks disease
NEJM 383:2666-2675, Case 41-2020, 2020
Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
Neurol 92:101-103, Kang, M.J.,et al, 2019
Clinicopathologic Conference, Powassan Virus Encephalitis
NEJM 380:380-387, Case 3-2019, 2019
Leg Weakness and Stiffness at the Emergency Room
Neurol 92:e622-e625, af Edholm, K.,et al, 2019
Clinicopathologic Conference, Amyotrophic Lateral Sclerosis
NEJM 380:1566-1574, Case 12-2019, 2019
A Case of Progressive Myelopathy in a Middle-Aged Woman
JAMA Neurol 76:1253-1254, Muccilli, A.,et al, 2019
Clinicopathologic Conference, Creutzfeldt-Jakob Disease
NEJM 381:1569-1578, Case 32-2019, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Diagnostic Tools for Immune Causes of Encephalitis
Clin Microbiol Infect 25:431-436, Lascano, A.M.,et al, 2019
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019