Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981
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
Clinical Manifestations, Pathologic Features, and Diagnosis of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
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
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
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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
Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,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
Rare Cause of Hemiparesis and Ataxia in a 36-Year-Old Man
Neurol 98:251-255, Decker, J. & Singh, M., 2022
New Onset Weakness in the Face and Arm
BMJ 368:L7077, Brites, L.,et al, 2020
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
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
A Patient with Psychiatric Illness and Multiple Hemorrhages
JAMA 322:2437-2438, Van Baalen, E.,et al, 2019
Toxidrome Recognition in Chemical - Weapons Attacks
NEJM 378:1611-1620, Ciottone, G.R., 2018
Behcet Disease
emedicine.medscape.com Dec, Davey-Ranasinghe, N. & Diamond, H.S., 2018
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
Neuropsychiatric Involvement of Behcets Disease
www.SMGEbooks.com Dec, Soyak, M., 2017
Fat Embolism Syndrome Secondary to Bone Marrow Necrosis in Patients with Hemoglobinopathies
SMJ 109:549-553, Gangaraju, R.,et al, 2016
Spectrum of Imaging Appearances of Intracranial Cryptococcal Infection in HIV/AIDS Patients in the Anti-Retroviral Therapy Era
Clin Radiol 71:9-17, Offiah, C.E. & Naseer, A., 2016
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
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 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)
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Sturge-Weber Syndrome
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Neuro-Sweets Disease
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An unusual cause of stroke and hypoxia
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Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Neurol 76:1372-1376, Sone, J.,et al, 2011
Random skin biopsy and bone marrow biopsy for diagnosis of intravascular large B cell lymphoma
Ann Hematol 90:417-421, Matsue, K.,et al, 2011
Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome
The Neurologist 17:179-184, Comi, A.M., 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
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Intravascular Lymphoma Masquerading as Multiembolic Stroke Developing After Coronary Artery By-Pass Surgery
The Neurologist 15:98-101, Sumer,M.,et al, 2009
Lyme Neuroborreliosis: Manifestations of a Rapidly Emerging Zoonosis
AJNR 30:1079-1087, Hildenbrand,P.,et al, 2009
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
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