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
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Childhood Seizures After Phototherapy
Pediatrics 142:e20180648, Newman, T.B.,et al, 2018
Congenital Myasthenic Syndromes in Adult Neurology Clinic
Neurol 91:e1770-e1777, Kao, J.C.,et al, 2018
Clinicopathologic Conference, Granulomatosis with Polyangiitis
NEJM 379:2452-2461, Case 39-2018, 2018
Population-based Study of Ischemic Stroke Risk after Trauma in Children and Young Adults
Neurol 89:2310-2316, Fox, C.K.,et al, 2017
Prehospital Emergency Care in Childhood Arterial Ischemic Stroke
Stroke 48:1095-1097, Stojanovski, B.,et al, 2017
Patient with Severe Moyamoya Disease Who Presents with Acute Cortical Blindness
Stroke 48:e126-e129, Sajja, A.,et al, 2017
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
Endovascular Therapies for Acute Ischemic Stroke in Children
Stroke 48:2026-2030, Huang, M.I.,et al, 2017
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
NEJM 377:1648-1656, Blumcke, I.,et al, 2017
Surgery for Drug-Resistant Epilepsy in Children
NEJM 377:1639-1647, Dwivedi, R.,et al, 2017
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
NEJM 377:1723-1732,1786, Finkel, R.S.,et al, 2017
Performance of Bedside Stroke Recognition Tools in Discrimination Childhood Stroke from Mimics
Neurol 86:2154-2161, Mackay, M.T.,et al, 2016
Successful Corticosteroid Treatment of Refractory Spontaneous Vasoconstriction of Extracranial Internal Carotid and Corornary Arteries
Neurologist 21:55-57, Takeuchi, M.,et al, 2016
International Consensus Guidance for Management of Myasthenia Gravis
Neurol 87:419-425, Sanders, D.B.,et al, 2016
Mechanisms, Causes, and Effects of Hypercapnia
UptoDate Dec, Feller-Kopman, D.J. & Schwartzstein, R.M., 2016
Neurological, Respiratory, Musculoskeletal, Cardiac and Ocular Side-Effects of Anti-PD-1 Therapy
Eur J Cancer 60:210-225, Zimmer, L.,et al, 2016
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
Clinicopathologic Conference, CAT Scratch Disease (Encephalopathy Associated with Bartonella Henselae)
NEJM 372:2050-2058, Case 16-2015, 2015
Cavernous Sinus Thrombosis in Children
Stroke 46:2657-2660, Press, C.A.,et al, 2015
Community Based Case-Control Study of Childhood Stroke Risk Associated with Congenital Heart Disease
Stroke 46:336-340, Fox, C.K.,et al, 2015
Acute Ischemic Stroke in Pediatric Patients
Stroke 46:e32-e33, Mittal, S.O.,et al, 2015
Two Cases of Congenital Myasthenic Syndrome with Vocal Cord Paralysis
Neurol 84:1281-1282, Al-Shahoumi, R.,et al, 2015
Inflammatory Muscle Diseases
NEJM 372:1734-1747, Dalakas, M.C., 2015
Recurrent Stroke in Childhood Cancer Survivors
Neurol 85:1056-1064, Fullerton, H.J.,et al, 2015
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, HIV Myelopathy, Peripheral Neuropathy & Myopathy
Adams & Victors Principles of Neurology, Chp 33, pg 760, Ropper, A.H.,et al, 2014
Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Mycoplasma Pneumoniae
Adams & Victors Principles of Neurology, Chp 32, pg 708, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia
Adams & Victors Principles of Neurology, Chp 37, pg 952, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1116, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
Adams & Victors Principles of Neurology, Chp 39, pg 1118, Ropper, A.H.,et al, 2014
Neurologic Complications in Dengue Virus Infection
Neurol 83:1601-1609,1590, Sahu, R.,et al, 2014
Distinctive Pattern of White Matter Injury in Neonates with Rotavirus Infection
Neurol 84:21-27,13, Yeom, J.S.,et al, 2014
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Transient Ischemic Attack Requiring Hospitalization of Children in the United States
Stroke 45:887-888, Adil, M.M.,et al, 2014
Drug Treatment of Epilepsy in Adults
BMJ 348:g2546, Schmidt, D. & Schachter, S.C., 2014
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Autism
Lancet 383:896-910, Lai, M.C.,et al, 2014
Stroke and NonStroke Brain Attacks in Children
Neurol 82:1434-1440, Mackay, M.T.,et al, 2014
Myasthenia in Pregnancy: Best Practice Guidelines from a UK Multispecialty Working Group
JNNP 85:538-543, Norwood, F.,et al, 2014
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014
Clinicopathologic Conference, Dermatomyositis. Malignant Atrophic Papulosis (Degoss Disease), Involving the Skin and Gastrointestinal Tract
NEJM 370:2327-2337, Case 18-2014, 2014
Controlled Trial of Transfusions for Silent Cerebral Infarcts in Sickle Cell Anemia
NEJM 371:699-710, DeBaun, M.R.,et al, 2014
Paraneoplastic Neurological Syndromes
Clin Exp Immunol 175:336-348, Leypoldt, F. & Wandinger, K.-P., 2014