FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Neuroimaging Changes in Menkes Disease, Part 1
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
JAMA Neurol 73:1494-1495, Hughes, A.J.C.,et al, 2016
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Clinical Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Arginase Deficiency Presenting as Cerebral Palsy
Pediatrics 91:995-996, Scheuerle,A.E.,et al, 1993
Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
J Pediatr 120:381-387, Weese-Mayer,D.E.,et al, 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
Diagnostic Criteria for Rett Syndrome
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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
Ann Neurol 18:560-566, Belman,A.L.,et al, 1985
Alexander's Disease, A Disease of Astrocytes
Brain 108:367-385, Borrett,D.&Becker,L.E., 1985
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
Lactic Acidemia, Mitochondrial Myopathy, & Basal Ganglia Calcification
Neurol 29:1057-1061, Markesbery,Wm.R., 1979
Intracranial Arteriovenous Malformations in Childhood
Ann Neurol 3:338, Kelly,J.J.,et al, 1978
Germinoma of third Ventricle (Case Record of MGH)
NEJM 293:653, Locke,S.,et al, 1975
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Brain Calcification in a Young Woman With Seizures, Explore the Rare Differentials
Neurol 100:397-398, Menon,B.,et al, 2023
Salt and Pepper Sign, PLNTY for Drug-Resistant Epilepsy
Neurol 100:791-795, Paredes-Aragon,E.M.,et al, 2023
Drug Resistant Epilepsy in a 61-Year-Old Man with Abnormal MRI Brain Findings and Management with Vagal Nerve Stimulator
Neurol 100:1111-1116, Mankad,J.P. & Lavingia,J.R., 2023
Posterior Reversible Encephalopathy Syndrome
NEJM 388:2171-2178, Geocadin,R.G., 2023
Neurologic Complications of Babesiosis, United States, 2011-2021
Emerg Inf Dis 29:1127-1135, Locke,S.,et al, 2023
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Clinicopathologic Conference, Mycobacterium Tuberculosis Meningitis
NEJM 384:166-176, Case 1-2021, 2021
Lentiform Fork Sign in Metabolic Acidosis
Ann Neurol 89:188-189, Kumar, N. & Kumar, D., 2021
The SANAD II study of the Effectiveness and Cost-Effectiveness of Levetiracetam, Zonisamide, or Lamotrigine for Newly Diagnosed Focal Epilepsy: An Open-Label, Non-Inferiority, Multicentre, Phase 4, Randomised Controlled Trial
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The SANAD II Study of the Effectiveness and Cost-Effectiveness of Valproate Versus Levetiracetam for Newly Diagnosed Generalised and Unclassifiable Epilepsy: An Open-Label, Non-Inferiority, Multicentre, Phase 4, Randomised Controlled Trial
Lancet 397:1375-1386, Marson, A.,et al, 2021
Vagus Nerve Stimulation and Seizure Outcomes in Pediatric Refractory Epilepsy
Neurol 96:1041-1051, Jain, P. & Arya, R., 2021
Initial Management of Seizure in Adults
NEJM 385:251-263, Smith, P.E.M., 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
Neurol 94:939-942, Madaan, P.,et al, 2020
Neuropathy, Encephalopathy, Status Epilepticus, and Acute Intermittent Porphyria
Lancet 395:e101, Ahmed, M.A.,et al, 2020
Contrast-Induced Encephalopathy After Endovascular Thrombectomy for Acute Ischemic Stroke
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Efficacy and Safety of Adjunctive Lacosamide in the Treatment of Primary Generalised Tonic-Clonic Seizures: A Double-Blind, Randomised, Placebo-Controlled Trial
JNNP 91:1067-1075, Vossler, D.G.,et al, 2020
Cerebrospinal Fluid Hypovolemia and Posterior Reversible Encephalopathy Syndrome
Front Neurol 11:591, Zheng,Y-y, et al, 2020
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Cranial Cavernous Malformations
Stroke 49:1029-1035, Stapleton, C.J. & Barker, F.G., 2018
Effect of Cannabidiol on Drop Seizures in the Lennox-Gastaut Syndrome
NEJM 378:1888-1897, Devinsky, O.,et al, 2018
Efficacy and Tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy
Neurol 91:82-90, Kanner, A.M.,et al, 2018
Efficacy and Tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy
Neurol 91:74-81, Kanner, A.M.,et al, 2018
Acute Viral Encephalitis
NEJM 379:357-366, Tyler,K.L., 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