Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
Neurol 89:2365-2373, Kuperus, E.,et al, 2017
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
Enzyme Replacement Therapy With Agalsidase Alfa in Patients With Fabrys Disease: An Analysis of Registry Data
Lancet 374:1986-1996, 1950, Mehta,A.,et al, 2009
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Enzyme Replacement Therapy Improves Function of C-, Adelta-, and Abeta- Nerve Fibers in Fabry Neuropathy
Neurol 62:1066-1072, Hilz,M.J.,et al, 2004
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Enzyme Replacement Therapy in Fabry Disease
JAMA 285:2743-2749, Schiffmann,R.,et al, 2001
Neurogene Therapy for the 21st Century
Arch Neurol 57:54, Brady,R.O., 2000
Loss of Vision in Gaucher's Disease and Its Reversal by Enzyme-Replacement Therapy
NEJM 338:1471-1472, vom Dahl,S.,et al, 1998
Infection of Collagenase in the Treatment of Herniated Lumbar Disk
JAMA 245:730-732, Sussman,B.J.,et al, 1981
Enzyme Treatment of Spinal Cord Transected Rats
Ann Neurol 5:203-206, Feringa,E.R.,et al, 1979
Lidase Treatment of Spinal Cord Transected Rats
Ann Neurol 6:78-79, Kowalski,T.F.,et al, 1979
Clinicopatholigical Conference, Plasmodium Falciparum Malaria
NEJM 309:549-556, Case 4-2024, 2024
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Clinicopathologic Conference,Acquired Thrombotic Thrombocytopenic Purpura
NEJM 389:1804-1811, Case 34-2023, 2023
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Clinicopathologic Conference, Hypocalcemic Myopathy Due to Hypoparathyroidism
NEJM 388:1513-1520, Case 12-2023, 2023
Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023
Babesiosis: Clinical Manifgestations and Diagnosis
www.UptoDate.com, Oct, Krause,P.J. & Vannier,E.G., 2022
Lentiviral Haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access
Lancet 399:372-383, Fumagalli, F.,et al, 2022
Does Capturing Debris During TAVR Prevent Strokes?
NEJM 387:1318-1319, Carroll, J.D. & Saver, J.L., 2022
Oral Contraceptives, Hormone Replacement Therapy, and Stroke Risk
Stroke 53:3107-3115, Johansson, T.et al, 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
NEJM 385:1929-1940, Gentner, B.,et al, 2021
Clinicopathologic Conference, Seizure from Neurocysticercosis
NEJM 385:1894-1902, Case 34-2021, 2021
Clinicopathologic Conference, Systemic Primary Amyloidosis
NEJM 384:363-372, Case 3-2021, 2021
A 7-Year-Old Boy with Acute-Onset Altered Mental Status
Neurol 96:e2774-e2778, Wong, G.J.,et al, 2021
Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
NEJM 385:1220-1229, Case 29-2021, 2021
Drugs Associated with Ischemic Stroke
Stroke 52:e646-e659, Marto, J.P.,et al, 2021
Cerebral Venous Thrombosis and Hypercoagulability Associated with In Vitro Fertilization
Stroke 52:e554-e557, Farooqui A.B.,et al, 2021
Muscle Stiffness, Gait Instability, and Liver Cirrhosis in Wilsons Disease
Lancet 396:990, Kronlage, C.,et al, 2020
A Patient with a History of Weight Loss Presenting with Seizures
Neurol 95:e2038-e2042, Tang, G. & Benavides, D.R., 2020
Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Acute Ischemic Stroke in Adolescents
Neurol 94:e158-e169, Rambaud, R.,et al, 2020
Fat Embolism Syndrome in Sickle Cell Disease
J Clin Med 9:1-12, Tsitsikas, D.A.,et al, 2020
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Pathophysiology and Management of Hyperammonemia in Organ Transplant Patients
Am J Kidney Dis PMID:31040091, Seethapathy, H. & Fenves, A.Z., 2019
Clinicopathologic Conference, Statin-Associated Autoimmune Myopathy
NEJM 381:275-283, Case 22-2019, 2019
Management of Anticoagulants in Patients Undergoing Endoscopic Procedure
www.UptoDate.com, Dec, Kamath, P.S., 2018
A 41-year-old man with Thunderclap Headache
Neurol 91:e87-e91, Grossman, S.et al, 2018
A Headache of a Diagnosis
NEJM 379:475-479, Stern,R.M.,et al, 2018
Hearing and Vision Loss in an Older Man
JAMA Neurol 75:1439-1440, Ho, V.M.,et al, 2018
Clinicopathologic Conference, Lyme Meningoradiculitis
NEJM 379:1862-1868, Case 34-2018, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018