Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
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
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
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
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
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
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
Neuroradiology 33:181-182, Johnsen,D.E.,et al, 1991
Neurologic Sequelae of Chronic Solvent Vapor Abuse
Neurol 36:698-702, Hormes,J.T.,et al, 1986
Alcoholism
Clin Neurol Chap 22 p. 1084, A. B. Baker Text Book of Neurology., Victor,M., 1850
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
An 11-year-old Boy with Language Disorder and Epilepsy
Neurol 86:e48-e53, Dong, L. & Zhou, X., 2016
Clinicopathologic Conference, Chronic Meningoencephalitis Consistent with Rasmussens Encephalitis
NEJM 371:1737-1746, Case 34-2014, 2014
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
Clinicopath Conf., Degoss Disease
NEJM 355:2575-2584, Case 38-2006, 2006
Update on Primary Central Nervous System Lymphoma
Curr Opin Neurol 18:645-653, Plotkin,S.R., 2005
Neuro-Ophthalmic Findings in the Visual Variant of Alzheimers Disease
Ophthalmology 111:376-381, Lee,A.G. &Martin,C.O., 2004
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Subacute Sclerosing Panencephalitis
Postgrad Med J 78:63-70, Garg, R.K.,et al, 2002
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
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
The Spectrum of Brain MR Abnormalities in Sickle-Cell Disease:A Report from the Cooperative Study of Sickle Cell Disease
AJNR 17:965-972, Moser,F.G.,et al, 1996
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
Clinicopath Conf
Spongiform Encephalopathy (Creutzfeldt-Jakob Disease) , with Amyloid (KURU) Plaques, Case 17-1993, N, JM 328:66,1993., 1993
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
Magnetic Resonance Imaging of the Brain in Infants and Children Before and After Cardiac Surgery
Am J Dis Child 144:374-378, McConnell,J.R.,et al, 1990
Sneddon Syndrome:CT, Arteriography, and MR Imaging
J Comput Assist Tomogr 13:119-122, Blom,R.J., 1989
Cerebrovascular Disease & Antiphospholipis Antibodies in SLE, Lupus-Like Dis, & Primary Antiphospholipid Synd
Am J Med 86:391-399, Asherson,R.A.,et al, 1989
Clinical-Pathologic Correlation in Huntington's Disease:A Neuropsychological and Computed Tomography Study
Neurol 39:796-801, Bamford,K.A.,et al, 1989
Congenital AIDS:Review of Neurological Problems
Child's Nerv Syst 5:9-11, Curles,R.G., 1989
Pediatric Acquired Immunodefieiency Syndrome
Am J Dis Child 142:29-35, Belman,A.L.,et al, 1988
Magnetic Resonance Imaging of Cerebral Lesions in Pts with the Sjogren Syndrome
Ann Int Med 108:815-823, Alexander,E.L.,et al, 1988
Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985
Multifocal Central Nervous System Damage Caused by Toluene Abuse
Neurol 33:1337-1340, Lazar,R.B.,et al, 1983
Bicaudate Index in Computerized Tomography of Huntington Disease & Cerebral atrophy
Neurol 28:1196-1200, Barr,A.N.,et al, 1978
Corticodentatonigral Degeneration with Neuronal Achromasia
Arch Neurol 18:20-33, Rebeiz,J.J.,et al, 1968