Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Clinicopathologic Conference, Posterior Reversible Encephalopathy Syndrome Due to Sickle Cell Disease
NEJM 392:268-276, Case 2-2025, 2025
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
Patient with Prior Spinal Cord Injury Who Developed Altered Mental Status After a Fall
Neurol 99:1122-1127, Dessy,A.,et al, 2022
Clinicopathologic Conference, Intraparenchymal & Intracranial Hemorrhage due to Birth Trauma
NEJM 382:656-664, Case 5-2020, 2020
Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 2017
Clinicopathologic Conference, Copper Deficiency Myelopathy
NEJM 377:1977-1984, Case 35-2017, 2017
Posttraumatic Lumbar Epidural Hematoma
Neurol 84:e7-e8, Aalst, J.V.,et al, 2014
Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013
Neurocardiogenic Syncope
NEJM 352:1004-1010, Grubb, B.P., 2005
Clinicopath Conf
Progressive Supranuclear Palsy, Case 26, 1997, NEJM 337:549-55697., , 1997
Diffuse Lewy Body Disease:Clinical Features in Nine Cases without Coexistent Alzheimer's Disease
JNNP 60:531-538, Hely,M.A.,et al, 1996
Clinicopath Conf
Arteritis, Unclassified, with Giant-Cell Reaction & Multiple Infarcts of the Brain & Neuropathy, Cas, 5-199532:452-459,1995., 1995
Subarachnoid Haemorrhage Presenting as Head Injury
BMJ 310:1186-1187, Sakas,D.E.,et al, 1995
The Nondystrophic Myotonias
In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994
Clinical Characteristics of Vasodepressor, Cardioinhibitory, and Mixed Carotid Sinus Syndrome in the Elderly
Am J Med 95:203-208, McIntosh,S.J.,et al, 1993
Mechanical Restraint Use and Fall-Related Injuries Among Residents of Skilled Nursing Facilities
Ann Int Med 116:369-374, Tinetti,M.E.,et al, 1992
Surgical Experience with Cerebral Amyloid Angiopathy
Stroke 21:1545-1549, Greene,G.M.,et al, 1990
Management of Old People with Neck Trauma, Injury to the Cervical Cord is Common But May Be Overlooked
BMJ 299:633-634, Johnston,R.A., 1989
Conduction Studies of the Long Thoracic Nerve in Serratus Anterior Palsy of Different Etiology
Neurol 34:1033-1037, Petrera,J.E.&Trojaborg,W., 1984
An 81-Year-Old Man with Imbalance and Memory Impairment
, Golbe,L.I.,et al,
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 68-YEar-Old Man with Progressive Numbness, Vertigo, and Cognitive Decline
Neurol 104:e213437, Regan,S.M. & Davalos,L.F., 2025
Stroke Risk after Emergency Department Treat-and-Release Visit for a Fall
Stroke 55:2247-2253, Kaisser,J.H.,et al, 2024
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
A 77-Year-Old Man with Involuntary Movements, Sleep Changes, Falls, Bulbar Symptoms, and Cognitive Complaints
Neurol 99:26-30, Cao, T.Q.,et al, 2022
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021
A 57-Year-Old Woman with Progressive Ataxia and Falls
Neurol 95:650-656, Badahdah, A., 2020
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Clinicopathologic Conference, Vitamin C Deficiency (Scurvey), Vitamin B6 & Folate Deficiencies
NEJM 379:282-289, Case 22-2018, 2018
Precipitous Deterioration of Motor Function, Cognition, and Behavior
JAMA Neurol 74:591-596, Fernandez-Fournier, M.,et al, 2017
A 45-year-old woman with Immobility and Incontinence
Neurol 88:e212-e218, Zhang, B.,et al, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Advances in Progressive Supranuclear Palsy: New Diagnostic Criteria, Biomarkers, and Therapeutic Approaches
Lancet Neurol 16:552-563, Boxer, A.L.,et al, 2017
Orthostatic Tremor
Neurol 86:458-464, Hassan, A.,et al, 2016
Clinicopathologic Conference, CAT Scratch Disease (Encephalopathy Associated with Bartonella Henselae)
NEJM 372:2050-2058, Case 16-2015, 2015
Cerebral Fat Embolism
Stroke 46:e251-e253, Mijalski, C.,et al, 2015
Progressive Parkinsonism, Balance Difficulties, and Supranuclear Gaze Palsy
JAMA Neurol 71:104-107, Erro, R.,et al, 2014
Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Normal Pressure Hydrocephalus
Adams & Victors Principles of Neurology, Chp 30, pg 624, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Parkinson Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1082, Ropper, A.H.,et al, 2014
Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014
Copper Deficiency as a Treatable Cause of Poor Balance
BMJ 340:864-866, Khaleeli,Z., et al, 2010
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Sudden Falls Due to Seizure-Induced Cardiac Asystole in Drug-Resistant Focal Epilepsy
Neurol 70:1933-1935, Rubboli,G.,et al, 2008
The Safety of Hospital Stroke Care
Neurol 68:550-555,542, Holloway,R.G.,et al, 2007
Cerebellar Infarction int he Territory of the Medial Branch of the Superior Cerebellar Artery
Neurol 66:115-117, Sohn,S.-I.,et al, 2006