Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
NEJM 381:164-172, Case 21-2019, 2019
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
Neurol 72:1607-1613, Lossos,A.,et al, 2009
Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Clinicopath Conf
Tangier Disease, Case 16-1996, NEJM 334:1389-1394996., , 1996
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Clinicopath Conf
Familial Visceral Myopathy (Oculogastrointestinal Muscular Dystrophy) , Case 12-1990, NEJM 322:829-8, 1, 19, 1990
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984
Clinicopathological Conference
Case 2-1984, Fabry's Disease, NEJM 310:106-114984., , 1984
Clin. Path. Conference
Coproporphyria with Polyneuropathy, Case Record 39-1984, NEJM 311:839-847984., , 1984
Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983
Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
Clinicopathologic Conference, Systemic Immunoglobulin Light-Chain (AL) Amyloidosis
NEJM 389:166-175, Case 21-2023, 2023
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 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
Clinicopathologic Conference, Lympohplasmic Lymphoma of the CNS (Bing-Neel Syndrome)
NEJM 384:745-753, Case 6-2021, 2021
Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020
Clinicopathologic Conference, Vitamin C Deficiency (Scurvey), Vitamin B6 & Folate Deficiencies
NEJM 379:282-289, Case 22-2018, 2018
Clinicopathologic Conference, Granulomatosis with Polyangiitis
NEJM 379:2452-2461, Case 39-2018, 2018
Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
JAMA Neurol 74:238-241, Dubey, D.,et al, 2017
Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Clinicopathologic Conference, Diffuse Large B-Cell Lymphoma Consistent with Neurolymphomatosis
NEJM 376:2471-2481, Case 19-2017, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Rapid Multifocal Neurologic Decline in an Immunocompromised Patient
JAMA Neurol 73:226-231, Kromm, J.A.,et al, 2016
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Rapidly Progressive Quadriplegia and Encephalopathy
JAMA Neurol 73:1363-1366, Wynn, D.,et al, 2016
Clinicopathologic Conference, Ethylene Glycol Ingestion
NEJM 372:465-473, Case 4-2015, 2015
Clinicopathologic Conference, Botulism
NEJM 372:364-372, Case 3-2015, 2015
A Young Woman with Blurred Vision and Distal Paresthesias
JAMA Neurol 72:1519-1523, Kung, N.H.,et al, 2015
Clinical Case Conference: A 41-Year-Old Woman with Progressive Weakness and Sensory Loss
Ann Neurol 75:9-19, Stephen, C.D.,et al, 2014
Clinicopathologic Conference, Glioblastoma, WHO Grade IV, Involving Leptomeninges Consistent with Primary Leptomeningeal Gliomatosis
NEJM 370:1049-1059, Case 8-2014, 2014
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Clinicopathologic Conference, Rabies Encephalitis
NEJM 368:172-180, Case 1-2013, 2013
Clinicopathologic Conference, Dissection of the left vertebral artery and cerebellar infarction
NEJM 369:1736-1748, Case 34-2013, 2013
Clinicopathologic Conference, Methcathinone (Bath Salts) Intoxication
NEJM 369:2536-2545, Case 40-2013, 2013
Clinicalpathologic Conference, Vitamin B12 Deficiency due to Pernicious Anemia
NEJM 366:1626-1633, Case 13-2012, 2012
Clinicopathologic Conference, Neurocysticercosis Involving the Cerebral Ventricles and Spinal Meninges
NEJM 366:1924-1934, Case 15-2012, 2012
Clinicopathologic Conference, Villaret Syndrome (Ipsilateral Cranial Nerves and Cervical Sympathetic Fibers) due to a Carotid-Artery Dissection and an Associated Aneurysm
NEJM 366:2306-2313, Case 18-2012, 2012
Clinicopathologic Conference, Squamous- Cell Carcinoma of the Tongue with Metastasis to Lungs, Liver, Bone of Skull, Trigeminal Nerve, Base of Skull, Pituitary Gland and Dura Matter. Infarcts of Cerebellum and Right Frontal Lobe.
NEJM 367:1136-1145, Case 29-2012, 2012
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Clinicopathologic Conference, Sjogrens syndrome with dorsal-root ganglionitis
NEJM 364:1856-1865, Case 14-2011, 2011