Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Clinicopathologic Conference, Myeloperoxidase antineutrophil cytoplasmic antibody-associated vasculitis
NEJM 390:843-851, Case 7-2024, 2024
Pathogenesis and Clinical Manifestations of IgG4-Related Disease
WWW.UptoDate.com, April, Moutsopoulos,H.M.,et al, 2023
Tuberous Sclerosis Complex:Clinical Features
www.UptoDate.com, Dec, Randle,S., et al, 2023
Hyperpigmentation in Vitamin B12 Deficiency
NEJM 386:172, Sherman, S.V., 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 2022
A Patient with Psychiatric Illness and Multiple Hemorrhages
JAMA 322:2437-2438, Van Baalen, E.,et al, 2019
Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017
Clinicopathologic Conference, IgG4-Related Vasculitis
NEJM 376:775-786, Case 6-2017, 2017
Clinicopathologic Conference, Invasive Neisseria Meningitidis Infection and Primary C8 Deficiency
NEJM 372:1454-1462, Case 11-2015, 2015
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
AJNR 35:402-406, Bhargava, R.,et al, 2014
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Diseases of the Nervous System Caused by Nutritional Deficiency, Pellagra (Niacin, Nicotinic Acid, B3 Deficiency)
Adams & Victors Principles of Neurology Chp 41, pg 1170, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
Adams & Victors Principles of Neurology, Chp 37, pg 960, Ropper, A.H.,et al, 2014
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Clinicopath Conf, The POEMS Syndrome, with Demyelinating Neuropathy and Solitary Pharmacytoma of Bone
NEJM 362:929-940, Case 7-2010, 2010
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Cystic Fibrosis Presenting With Intracerebral Haemorrhage
Lancet 358:1960, Merelle,M.E.,et al, 2001
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Ash-Leaf Spots in Tuberous Sclerosis
NEJM 338:1887, Kurlemann,G.&Schuierer,G., 1998
MRI of White Matter Changes in the Sjogren-Larsson Syndrome
Neuroradiology 37:576-577, Hussain,M.Z.&Aihara,M., 1996
Mastocytosis-Induced Nyctalopia
J Neuro-Ophthalmol 16:115-119, Lesser,R.L.,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
Familial Sneddon's Syndrome:Clinical, Hematologic, and Radiographic Findings in Two Brothers
Neurol 44:399-405, Pettee,A.D.,et al, 1994
Pre-and Postcontrast MR Studies in Tuberous Sclerosis, Wippold
J Comput Assist Tomogr 16:69-72, II,F.J.,et al, 1992
Hypomelanosis of Ito
Editorial, Lancet 339:651-6521992., , 1992
Encephalitis in Cat Scratch Disease with Persistent Dementia
JNNP 55:133-135, Revol,A.,et al, 1992
New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
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
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Encephalotrigeminal Angiomatosis
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 582, Gold,A.P., 1989
Clinicopath Conf
Antiphospholipid-Antibody Syndrome, ANA-Negative Systemic Lupus Erythematosus, Case Study 37-1988, N, JM :699-712,1988., 1988
Hypoparathyroidism
Cecil Textbook of Medicine 18th Ed, W B Saunders Co, Phila, p149688., Arnaud,C.D., 1988
Neurologic Complications of the Epidermal Nevus Syndrome
Arch Neurol 44:227-232, Baker,R.S.,et al, 1987
Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
Neurol 37:446-450, Larsen,R.,et al, 1987
Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
Clinicopathological Conference
Scurvy, Wernicke-Korsakoff Syndrome, Case 33-1986, NEJM 315:503-50886., , 1986
Neurologic Manifestations of the Organoid Nevus Syndrome
Arch Neurol 42:236-240, Clancy,R.R.,et al, 1985
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
Neurol 32:1013-1016, Ross,D.L.,et al, 1982
Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
Ann Neurol 11:372-376, Murphy,M.J.,et al, 1982