Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
AJNR 23:1757-1766, Brunberg,J.A.,et al, 2002
SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
Neruol 56:299-303,287, O'Hearn,E.,et al, 2001
Clinical,Radiological,Neurophysiological,and Neuropathological Characteristics of Gluten Ataxia
Lancet 352:1582-1585, Hadjivassiliou,M.,et al, 1998
Neuroradiological Features of Six Kindreds with MELAS tRNA(Leu) A3243G Point Mutation: Implications for Pathogenesis
JNNP 65:233-240, Sue,C.M.,et al, 1998
Rapid Spongiform Degeneration of the Cerebrum and Cerebellum in Creutzfeldt-Jakob Encephalitis:Serial MR Findings
AJNR 18:583-586, Tzeng,B-C.,et al, 1997
Cerebral & Cerebellar Atrophy on Serial MRI in an Initially Symptom Free Subject at Risk of Familial Prion Disease
BMJ 315:856-857, Fox,N.C.,et al, 1997
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
Neurol 45:311-317, Barth,P.G.,et al, 1995
Clinicopath Conf
Spongiform Encephalopathy (Creutzfeldt-Jakob Disease) , with Amyloid (KURU) Plaques, Case 17-1993, N, JM 328:66,1993., 1993
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Cerebral Cortex and Brainstem Involvement in Marinesco-Sjogren Syndrome
Ann Neurol 27:448-449, Katafuchi,Y.,et al, 1990
The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
Arch Neurol 47:1239-1242, Bromberg,M.B.,et al, 1990
Neurologic Sequelae of Chronic Solvent Vapor Abuse
Neurol 36:698-702, Hormes,J.T.,et al, 1986
Multifocal Central Nervous System Damage Caused by Toluene Abuse
Neurol 33:1337-1340, Lazar,R.B.,et al, 1983
Alcoholism
Clin Neurol Chap 22 p. 1084, A. B. Baker Text Book of Neurology., Victor,M., 1850
Clinicopathologic Conference, Primary Progressive Aphasia, Semantic Variant, due to TAR DNA Binding Protein 43 associated Frontotemporal Lobar Degen
NEJM 376:158-167, Case 1-2017, 2017
A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016
A 56-year-old Man with Cognitive Impairment and Difficulty Tying his Necktie
Neurol 85:e116-e122, Baker, J.M.,et al, 2015
Expanding the Clinical, Radiological and Neuropathological Phenotype of Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids (CLIPPERS)
JNNP 83:15-22, Simon, N.G.,et al, 2012
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Evidence for Acute Neurotoxicity After Chemotherapy
Ann Neurol 68:806-815, Petzold,A.,et al, 2010
Cortical Lesions in Primary Progressive Multiple Sclerosis: A 2-Year Longitudinal MR Study
Neurol 72:1330-1336, Calabrese,M.,et al, 2009
A 34-Year-Old Man With Progressive Behavioral and Language Disturbance
Neurol 68:68-74, Miller,B.L.,et al, 2007
Update on Primary Central Nervous System Lymphoma
Curr Opin Neurol 18:645-653, Plotkin,S.R., 2005
Cognitive Status and Quality of Life After Treatment for Primary CNS Lymphoma
Neurol 62:544-547,532, Harder,H.,et al, 2004
Serial MRI Findings in a Case of Primary Lateral Sclerosis
Neurol 58:647-649, Smith,C.D., 2002
Radiotherapy-induced Cerebral Abnormalities in Patients with Low-grade Glioma
Neurol 59:121-123,8, Postma,T.J.,et al, 2002
Subacute Sclerosing Panencephalitis
Postgrad Med J 78:63-70, Garg, R.K.,et al, 2002
Primary and Transitional Progressive MS,A Clinical and MRI Cross-Sectional Study
Neurol 52:839-845, Stevenson,V.L.,et al, 1999
Rapidly Progressive Dementia
Lancet 353:1150, Bornke,C.,et al, 1999
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Dipsticks and Convulsions
Lancet 352:1824, Koch,H., 1998
Clinical, Neuroimaging, and Pathologic Features of Progressive Nonfluent Aphasia
Ann Neurol 39:166-173, Turner,R.S.,et al, 1996
Neurologic Abnormalities in Murderers
Neurol 45:1641-1647, Blake,P.Y.,et al, 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Reversible Dementia and Apparent Brain Atrophy During Valproate Therapy
Ann Neurol 38:687-691, Papazian,O.,et al, 1995
Initial and Follow-up Brain MRI Findings and Correlation with the Clinical Course in Wilson's Disease
Neurol 44:1064-1068, Roh,J.K.,et al, 1994
Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
Ann Neurol 36:368-378, Lampe,T.H.,et al, 1994
Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
Ann Neurol 35:680-688, Davis,L.E.,et al, 1994
MR Findings in Seven Patients with Organic Mercury Poisoning (Minamata Disease)
AJNR 15:1575-1578, Korogi,Y.,et al, 1994
The Prevalence of CT Abnor of the Cerebrum in 100 Consecutive Children Symptomatic with the HIV
Ann Neurol 34:198-205, DeCarli,C.,et al, 1993
Progressive Language Disorder Due to Lobar Atrophy
Ann Neurol 31:174-183, Snowden,J.S.,et al, 1992
Crossed Cerebellar Diaschisis and Crossed Cerebellar Atrophy:MR Findings & Clin Symptoms in 26 Pts
AJR 158:1155-1159, Tien,R.D.&Ashdown,B.C., 1992
Delayed Radiation Encephalopathy after Radiotherapy for Nasopharyngeal Cancer:A CT Study of 45 Cases
J Comput Assist Tomogr 15:181-187, Hu,J.,et al, 1991
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991