Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Clinicopathologic Conference, Intraparenchymal & Intracranial Hemorrhage due to Birth Trauma
NEJM 382:656-664, Case 5-2020, 2020
Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020
Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
Clinicopathologic Conference, Lebers Hereditary Optic Neuropathy
NEJM 381:164-172, Case 21-2019, 2019
Clinicopathologic Conference, Posterior Cortical Atrophy with Frontotemporal Lobe Dementia with Gene Mutation
JAMA Neurol 74:114-118, , 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
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015
Clinicopathologic Conference, Primitive Neuroectodermal Tumor of CNS, with Involvement of Thalamus, Medial Cerebral Cortex, Brainstem, Cerebellum and Subarachnoid Space
NEJM 372:1550-1562, Case 12-2015, 2015
Clinicopathologic Conference, CAT Scratch Disease (Encephalopathy Associated with Bartonella Henselae)
NEJM 372:2050-2058, Case 16-2015, 2015
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Clinicopath Conf., Brain Abscess, Pulmonary Arteriovenous Malformation Due to Hereditary Hemorrhagic Telangiectasia
NEJM 362:1326-1333, Case 10-2010, 2010
Clinicopath Conf. Rickets Due to Vitamin D Deficiency
NEJM 360:398-407, Case 3-2009, 2009
Clinicopath Conf, Severe Acute Chorioamnionitis With Umbilical-Cord Phlebitis and Intense Chorionic-Plate Vasculitis
NEJM 358:1713-1723, Case 12-2008, 2008
Clinicopath Conf., Leighs syndrome, Intraventricular Hemorrhage and Periventricular Leukomalacia
NEJM 359:1156-1166, Case 28-2008, 2008
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, Von Hippel Lindau Disease, Adrenal Pheochromocytoma, Brain-Stem and Spinal Cord Hemangioblastoma
NEJM 355:394-402, Case 23-2006, 2006
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Clinicopath Conf, Neurofibromatosis Type 1, with Multiple Spinal Neurofibromas
NEJM 352:1800-1808, Case 13-2005, 2005
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Clinicopath Conf
Cat Scratch Encephalitis Due to B. Quintana, Case 1-1998, NEJM 338:112-11998., , 1998
Clinicopath Conf
Demyelinating Process Consistent with Multiple Sclerosis, Case 26-1998, NEJM 339:542-549998., , 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Clinicopath Conf
Placental Vascular Thrombosis Due to Listeria Infection, Cerebral Embolism and Infarction, Case 15-1, 97EJM 336:1439-1446,1997., 1997
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Clinicopath Conf
Cat-Scratch Disease, with Encephalopathy, Case 22-1992, NEJM 326:1480-148992., , 1992
A Five-Year-Old Girl with Acute Renal Failure and Multiple Cerebral Infarctions
J Pediatr 115:816-823, Mauro,R.D.,et al, 1989