Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020
Clinicopath Conf
Genetic Hemochromatosis, Micronodular Cirrhosis of Liver, Case 10-1997, NEJM 336:939-94797., , 1997
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017
Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Characyeristic features and progression of abnormalities on MRI for CARASIL
Neurol 85:459-463, Sekine, Y., etal, 2015
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
Neurol 72:1607-1613, Lossos,A.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Hyperhomocysteinemia, Low Folate and Vitamin B12 Concentrations, and Methylene Tetrahydrofolate Reductase Mutation in Cerebral Venous Thrombosis
Stroke 35:1790-1794, Cantu,C.,et al, 2004
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Coma in a Young Anorexic Woman
Lancet 357:1944, Blans,M.J.,et al, 2001
Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
BJR 73:256-265, Coulthard, A.,et al, 2000
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Acute Intermittent Porphyria:Clinicopathologic Correlation
Neurol 48:1678-1683, Suarez,J.I.,et al, 1997
Stroke in Williams Syndrome
Stroke 27:143-146, Wollack,J.B.,et al, 1996
Clinicopath Conf
Tangier Disease, Case 16-1996, NEJM 334:1389-1394996., , 1996
Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
J Pediatrics 122:423-425, Christodoulou,J.,et al, 1993
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
NEJM 324:1318-1325, Charnas,L.R.,et al, 1991
Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
Ann Neurol 30:709-716, Stanley,C.A.,et al, 1991
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
NEJM 322:1652-1669, Arn,P.H.,et al, 1990
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
MR Imaging of a Group I Case of Hallervorden-Spatz Disease
J Comput Assist Tomogr 12:851-853, Mutoh,K.,et al, 1988
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
MR Imaging in a Case of Hallervorden-Spatz Disease
J Comput Assist Tomogr 11:1057-1058, Tanfani,G.,et al, 1987
Late-Onset Hallervorden-Spatz Disease Presenting as Familial Parkinsonism
Neurol 35:227-234, Jankovic,J.,et al, 1985
Neurological Findings in Patients with the Fragile-X Syndrome
JNNP 48:150-153, Finelli,P.F.,et al, 1985
Clin. Path. Conference
Coproporphyria with Polyneuropathy, Case Record 39-1984, NEJM 311:839-847984., , 1984
Fragile X Chromosome & X-Linked Mental Retardation
CMA Journal 127:123-126, Larbrisseau,A.,et al, 1982
Computed tomography in Hallervorden-Spatz disease
Neurol 30:1128-1130, Dooling,E.C.,et al, 1980
Clinical & Biochemical Aspects of Trichopoliodystrophy
Ann Neurol 5:65-71, Grover,W.D.,et al, 1979
CT Scans in Menkes Disease
Neurol 29:304-312, Seay,A.R.,et al, 1979
Marfan's Syndrome
NEJM 301:273, Barr,M., 1979
Extreme Insulin Resistance in Ataxia Telangiectasia
NEJM 298:1164, Bar,R.S.,et al, 1978
Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978