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Long-Term Benefit of Enzyme Replacement Therapy in Pompe Disease
Neurol 89:2365-2373, Kuperus, E.,et al, 2017

Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995

Acid Maltase Deficiency
Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986

Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023

Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021

The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009

Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004

Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
J Pediatr 133:119-125, 71998., Guffon,N.,et al, 1998

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992

Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991

Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990

Clinical Presentation, Investigation Findings, and Outcomes of IgG4-Related Pachymeningitis,A Systematic Review
JAMA Neurol 82:193-199, Terrim,S.,et al, 2025

Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome
Neurol 103:e210076, Singh,R.,et al, 2024

Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022

Neurobrucellosis:The Great Mimicker
Rev Soc Bras Med Trop 55:e0567-e2012, Soares,C.N.,et al, 2022

The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022

Rapidly Progressive Thalamic Dementia
Neurol 96:e809-e813, Rizzo, A.C.,et al, 2021

Cocaine and Levamisole Cerebral Toxicity
Ann Neurol 89:1253-1254, Allard, J.,et al, 2021

Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020

Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
Neurol 95:e3129-e3137, He, R.,et al, 2020

Fat Embolism Syndrome in Sickle Cell Disease
J Clin Med 9:1-12, Tsitsikas, D.A.,et al, 2020

Subacute Progressive Sensorimotor Symptoms
BMJ 365:doi:10.1136/bmj.l1923, Francis, A.,et al, 2019

Clinicopathologic Conference, Lymphocytic Choriomeningitis Virus Infection
NEJM 381:2553-2560, Case Record 40-2019, 2019

Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019

Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018

FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018

Human Parechovirus: An Increasingly Recognized Cause of Sepsis-Like Illness in Young Infants
Clin Microbiol Reviews 31:1-17, Olijve, L.,et al, 2018

Spontaneous Subarachnoid Haemorrhage
Lancet 389:655-666, Macdonald, R.L. & Schweizer, T.A., 2017

Characteristics in Limbic Encephalitis with Anti-Adenylate Kinase 5 Autoantibodies
Neurol 88:514-524,508, Do, L. & Chanson, E., 2017

Overview of IgG4-related Disease
UptoDate, July, Moutsopoulos,H.,et al, 2017

Clinical Pathologic Conference, West Nile Virus Encephalitis
NEJM 377:1878-1886, Case 34-2017, 2017

Clinicopathologic Conference, Copper Deficiency Myelopathy
NEJM 377:1977-1984, Case 35-2017, 2017

Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017

Lymphocytic Choriomeningitis Virus (LCMV) Infection
www.Medscape.com Sept, McDonald, P.J.,et al, 2017

A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016

Fat Embolism Syndrome Secondary to Bone Marrow Necrosis in Patients with Hemoglobinopathies
SMJ 109:549-553, Gangaraju, R.,et al, 2016

Kleine-Levin Syndrome in 120 Patients: Differential Diagnosis and Long Episodes
Ann Neurol 77:529-540, Lavault, S.,et al, 2015

A 27-Year Old Man with Rapidly Progressive Coma
Neurol 85:e74-e78, Wong,J.M.,et al, 2015

Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015

Clinical Features, Diagnosis, and Treatment of Disseminated Intravascular Coagulation in Adults
UptoDate, Leung, L.L.K., 2015

Wernicke-Korsakoff Syndrome not Related to Alcohol Use: A Systematic Review
JNNP 86:1362-1368, Scalzo, S.J.,et al, 2015

Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015

Treatment of Brain Metastases
J Clin Oncol 33:3475-3484, Lin, X. & DeAngelis, L.M., 2015

Diagnosis and Management of Marchiafava-Bignami Disease: A Review of CT/MRI Confirmed Cases
JNNP 85:168-173, Hillborn, M.,et al, 2014

Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014

Diseases of the Nervous System Caused by Nutritional Deficiency, Wernicke-Korsakoff Syndrome (Thiamine B1) Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1162, Ropper, A.H.,et al, 2014

Diseases of the Nervous System Caused by Nutritional Deficiency, Nutritional Polyneuropathy (Neuropathic Beriberi)
Adams & Victors Principles of Neurology Chp 41, pg 1167, Ropper, A.H.,et al, 2014

Bone Marrow Necrosis and Fat Embolism Syndrome in Sickle Cell Disease: Increased Susceptibility of Patients with Non-SS genotypes and a Possible Association with Human Parvovirus B19 Infection
Blood Rev 28:23-30, Tsitsikas, D.A.,et al, 2014



Showing articles 0 to 50 of 165 Next >>