Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 64-year-old Man with Progressive Paraspinal Muscle Weakness
Neurol 86:e4-e9, Schneider, R.,et al, 2016
Clinicopathologic Conference, Acute Infectious Mononucleosis due to Epstein-Barr Virus Infection, Complicated by Acute Otitis Media and Postinfectious Cerebellitis
NEJM 369:1253-1261, Case 30-2013, 2013
A Strange Case of Waitress Headache
Lancet 378:1824, Libera, D.D.,et al, 2011
Clinicopathological Conference, Powasan Virus Encephalitis
NEJM 393:176-184, Case 19-2025, 2025
A 22-Year-Old Woman with Episodic Weakness and Jaundice
Neurol 103:e210018, Rathinasbapathi,M.,et al, 2024
Clinicopathologic Conference, Myasthenia Gravis
NEJM 391:1441-1450, Case 32-2024, 2024
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Miller Fisher Syndrome and Acute Motor and Sensory Axonal Neuropathy (AMSAN) Variant Guillain-Barre Overlap Syndrome (MFS/AMSAN-GBS) After Upper Respiratory Tract Infection (URTI)
Acta Sci Clin Case Reports 3:19-24, Chau,T.C. & Muhamad,N.A.N., 2022
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
A 60-year-old woman with ataxia
Neurol 90:e1627-e1630, Dandapat, S.,et al, 2018
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Neuroimaging and Clinical Features in Type II (late-onset) Alexander Disease
Neurol 82:49-56, Graff-Radford, J.,et al, 2014
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 988, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
Adams & Victors Principles of Neurology, Chp 39, pg 1109, 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
Clinicopathologic Conference, Thymoma with Paraneoplastic Myasthenia Gravis, Polymyositis and Myocarditis, and Brain Stem Encephalitis
NEJM 365:2413-2422, Case 39-2011, 2011
Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
NEJM 362:2213-2219, Case 17-2010, 2010
Clinicopath Conf:Lymphoplasmocytic Lymphoma with Motor Neuronopathy,Waldenstrom's Macroglobulinemia
NEJM 340:1661-1669, , 1999
Clinicopath Conf,Guillain-Barre Syndrome, Campylobacter Jejuni Enteritis,Case 39-1999
NEJM 341:1996-2003, , 1999
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Clinicopath Conf
Hodgkin's Disease, Paraneoplastic Cerebellar Degeneration, Case 21-1997, NEJM 337:115-12297., , 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Neuropathic Findings in Oculopharyngeal Muscular Dystrophy, Seven Cases & Review of Literature
Arch Neurol 50:481-488, Hardiman,O.,et al, 1993
Clinicopath Conf
Motor Neuron Disease, Progressive-Muscular-Atrophy Type, Case 43-1992, NEJM 327:1298-130592., , 1992
Primary Lateral Sclerosis, Clin Features, Neuropath & Dx Criteria
Brain 115:495-520, Pringle,C.E.,et al, 1992
Clinicopath Conf
Subacute Cerebellar Degeneration, Cystadenocarcinoma of Ovary, (with Paraneoplastic Syndrome) , Case, 34-1EJM 321:524-535,1989., 1989
Guillain-Barre Syndrome Presenting as High-Altitude Cerebral Edema
NEJM 321:545, Shlim,D.R.&Cohen,M.T., 1989
Clinicopath Conf
Chronic Osteomyelitis of Spine, with Intervertebral Diskitis (T3-T4) & Epidural Abscess (Staph Aureu, ) , Cas9,NEJM 320:1610-1618,1989., 1989
MR Imaging of a Group I Case of Hallervorden-Spatz Disease
J Comput Assist Tomogr 12:851-853, Mutoh,K.,et al, 1988
Infiltration of the Leptomeninges by Systemic Cancer:a Clinical & Pathologic Study
Arch Neurol 30:122, Olson,M.E.,et al, 1974
Brain Stem Tumors of Childhood & Adolescence
Am J Dis Child 119:465-472, Panitch,H.S.,et al, 1970
A 56-Year-Old Woman with New-Onset Hoarsement and Dysphagia
Neurol 104:e213363, McAree,M. & Frontera, J.A., 2025
A 69-Year-Old Woman with Ophthalmoplegia
Neurol 104:e213763, Yu, H & Frey, J, 2025
Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
Neurol 104: e213682, Hayakawa,I.,et al, 2025
Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
Neurol 105:213101, Soontrapa,P.,et al, 2025
Progressive Camptocormia with Head Drop and Dysphagia
JAMA Neurol 80:209-210, El-Wahsh,S., et al, 2023
Clinicopathologic Conference, Noncirrhotic hyperammonemia after Roux-en-Y Gastric Bypass
NEJM 389:1221-1230, Case 30-2023, 2023
A 37-Year-Old Man with Involuntary Movements, Gait Disturbance, and Hyperasthesia
Neurol 98:851-853, Meng, D.,et al, 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
A 71-Year-Old Man Presenting with Acute Onset Dysarthria and Dysphagia
Neurol 96:180-184, Spagni, G.,et al, 2021
A 29-Year-Old Man with Fevers and Rapidly Progressive Cranial Neuropathies
Neurol 97:95-98, Dessy, A.,et al, 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
A 55-Year-Odd Man with Old Behavior and Abnormal Movements
Neurol 97:1090-1093, McIntosh, P. & Scott, B., 2021
Bilateral Ptosis, Dysphagia, and Progresive Weakness in a Patient of French-Canadian Background
Neurol 95:933-938, Paul,P.,et al, 2020
Progressive Proximal Weakness in a 61-Year-Old Man
Neurol 98:122-127, Yu, M.,et al, 2020
Progressive Neurological Impairment and an Enhancing Brainstem Lesion in a Middle-Aged Man
JAMA Neurol 76:1397-1398, Gupta, S.,et al, 2019