The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
Neurol 87:e56-e57, Saini, A.G.,et al, 2016
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Craniofacial and Cutaneous Findings Expand the Phenotype of Hereditary Neuralgic Amyotrophy
Neurol 57:1963-1968, Jeannet,P.,et al, 2001
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023
Pathogenesis and Clinical Manifestations of IgG4-Related Disease
WWW.UptoDate.com, April, Moutsopoulos,H.M.,et al, 2023
Toxidrome Recognition in Chemical - Weapons Attacks
NEJM 378:1611-1620, Ciottone, G.R., 2018
Clinicopathologic Conference, Somnolence due to the Cerebral Fat Embolism Syndrome
NEJM 375:370-378, Case 23-2016, 2016
Fat Embolism Syndrome Secondary to Bone Marrow Necrosis in Patients with Hemoglobinopathies
SMJ 109:549-553, Gangaraju, R.,et al, 2016
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
AJNR 35:402-406, Bhargava, R.,et al, 2014
Clinicopathologic Conference, Infective Endocarditis and Infectious Aortitis due to Staphylococcus Aureus
NEJM 370:651-660, Case 5-2014, 2014
Clinicopathologic Conference, Dermatomyositis. Malignant Atrophic Papulosis (Degoss Disease), Involving the Skin and Gastrointestinal Tract
NEJM 370:2327-2337, Case 18-2014, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Neurol 76:1372-1376, Sone, J.,et al, 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Gadolinium-Based MR Contrast Agents and Nephrogenic Systemic Fibrosis
Radiology 242:647-649, Kuo,P.H.,et al, 2007
Cystic Fibrosis Presenting With Intracerebral Haemorrhage
Lancet 358:1960, Merelle,M.E.,et al, 2001
Clinicopath Conf:Carcinoma of Stomach with Leptomeningeal Carcinomatosis, DIC, Cortico-subcortical Infarcts
NEJM 340:1099-1106, Case 10-1999, 1999
Microscopic Polyangiitis: Clinical and Laboratory Findings in Eighty-five Patients
Arthritis Rheum 42:421--430, Guillevin, L.,et al, 1999
Fever, Convulsions and Coma in Scleromyxedema:A"Dermato-Neuro Syndrome"
Neurol 46:1778-1779, River,Y.,et al, 1996
Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
Neurol 45:1405-1408, Heckmann,J.M.,et al, 1995
Systemic Sclerosis Sine Scleroderma:An Unusual Presentation in Scleroderma Renal Crisis
J Rheumatol 22:557-560, Molina,J.F.,et al, 1995
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Anticonvulsant Hypersensitivity Syndrome
Arch Int Med 155:2285-2290, Vittorio,C.C.&Muglia,J.J., 1995
Hypomelanosis of Ito
Editorial, Lancet 339:651-6521992., , 1992
New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
Clinicopath Conf
Cat-Scratch Disease, with Encephalopathy, Case 22-1992, NEJM 326:1480-148992., , 1992
Anderson-Fabry Disease
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Acromegaly
NEJM 322:966-977, Melmed,S., 1990
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
Am J Med 82:989-997, Perry,W.H., 1987
Cholesterol Crystal Embolization:A Review of 221 Cases in the English Literature
Angiology 38:769-784, Fine,M.J.,et al, 1987
Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987
Neurologic Manifestations of the Organoid Nevus Syndrome
Arch Neurol 42:236-240, Clancy,R.R.,et al, 1985
Clinicopathological Conference
Case 2-1984, Fabry's Disease, NEJM 310:106-114984., , 1984
Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983
Ross Syndrome & Skin Changes
Neurol 32:1041-1042, Heath,P.D.,et al, 1982
Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
Neurol 32:1013-1016, Ross,D.L.,et al, 1982
The Syndrome of Facial Nevi, Anomalous Cerebral Venous Return, & Hydrocephalus
Ann Neurol 3:316, Orr,L.S.,et al, 1978
Neurologic Manifestations of Progressive Systemic Sclerosis, 1972
Nebraska Med J 58:106, Aita,J.A., 1973
Angiokeratoma Corporis Diffusum
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