Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
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
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 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
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
Am J Med 82:989-997, Perry,W.H., 1987
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,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
Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
NEJM 289:286, Hecht,F.,et al, 1973
A 28-Year-Old Man with Seizures and Thalamic Lesions
Neurol 106:e218065, Santos-Rojo,A.B.,et al, 2026
Inflammatory Myopathies
NEJM 394:1925-1938, AllenBach,Y. & Benveniste,O., 2026
Behcets Syndrome
NEJM 390:640-651, Saadoun,D.,et al, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Leptomeningitis with Communicating Hydrocephalus in an Immunocompromised Patient with Disseminated Sporotrichosis
Neurol 103:e209586, Taborda,M.H.,et al, 2024
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024
Severe Cervicodynia in a Patient With Pustules on the Palms
JAMA Neurol 80:323-324, Zia,C. & Lv,Y., 2023
Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023
A 40-Year-Old Woman Presenting with Encepatholopathy and Paraparesis
Neurol 101:e94-e98, AlSabah,A.,et al, 2023
Acute Myelopathy in a Man with Cutaneous Papules
JAMA Neurol 79:84-85, Neo, S.,et al, 2022
Rare Cause of Hemiparesis and Ataxia in a 36-Year-Old Man
Neurol 98:251-255, Decker, J. & Singh, M., 2022
Cholesterol Embolization Syndrome after Carotid-Artery Stenting
NEJM 386:1265, Wang, W. & Cai, J., 2022
Clinicopathological Conference, Systemic Lupus Erythematosus with Antiphospholipid Syndrome
NEJM 386:1560-1570, Case 12-2022, 2022
Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 2022
Brain and Skin Involvement in Erdheim-Chester Disease
Neurol 96:e1590-e1592, Budhram, A.,et al, 2021
An Unusual Cause of Sciatica in an Immunocompromised Patient
BMJ 372:n632, Kumar Singh, R., 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
Clinical Characteristics, Risk Factors, and Outcomes of POEMS Syndrome
Neurol 95:e268-e279, Keddie, S.,et al, 2020
Central Nervous System Involvement in Erdheim-Chester Disease
Neurol 95:e2746-e2754, Aubart,F.C.,et al, 2020
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
Blurry Vision and a Black Ink Tattoo
JAMA 321:699-700, Piggott, K.D.,et al, 2019
A Patient with Psychiatric Illness and Multiple Hemorrhages
JAMA 322:2437-2438, Van Baalen, E.,et al, 2019
Clinical Manifestations and Diagnosis of Nocardiosis
UptoDate May, Spelman, D., 2019
Clinical Characteristics and Treatment Outcomes for Patients Infected with Mycobacterium haemophilum
Emerg Inf Dis 25:1648-1652, Nookeu,P.,et al, 2019
A 30-year-old man with acute paraplegia and left foot gangrene
Neurol 90:e1355-e1359, Paliwal, V.K.,et al, 2018
A 56-year-old woman with acute vertigo and diplopia
Neurol 90:748-752, Sharma, R.,et al, 2018
Toxidrome Recognition in Chemical - Weapons Attacks
NEJM 378:1611-1620, Ciottone, G.R., 2018