Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
Wilson Disease
NIDDK Oct2018, , 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
Congenital Asymmetric Crying Facies Syndrome, A Case Report
Medicine 97:31(e11403), Liang,X. & He,B., 2018
Post-Traumatic Right Carotid-Cavernous Fistula Resulting in Symptoms in the Contralateral Eye:A Case Report and Literature Review
BMC Ophthalmology 18:183, Zhu,L., et al, 2018
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017
Cognitive Impairment Profile in adult Patients with Neimnn Pick Type C Disease
Orphanet J Rare Dis 12:166, Heitz, C., et al, 2017
Bilateral Hippocampal Restricted Diffusion:Same Picture Many Causes
J Neuroimaging 27:300-305, Bhattacharyya,S.,et al, 2017
Atrioesophageal Fistula -Clinical Presentation, Procedural Characteristics, Diagnostic Investigations, and Treatment Outcomes
Circ Arrhythrm Electrophysiol doi:10.1161/CIRCEP.117.005579, Han,H-C.,et al, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017
Cerebral Venous Sinus Thrombosis in Homocystinuria: Dietary Intervention in Conjunction with Anticoagulation
Sage Open Med Case Reports 5:1-4, Yap, S.,et al, 2017
Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Clinicopathologic Conference, Paroxysmal Nocturnal Hemoglobinuria
NEJM 377:2581-2590, Case 40-2017, 2017
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Bipolar II Disorder as the Initial Presentation of CADASIL:An Underdiagnosed Manifestation
Neuropsych Dis Treat 13:2175-2179, Wang,J.,et al, 2017
Man with Recurrent Paralysis and Cerebral White Matter Lesions
JAMA Neurol 74:599-600, Xiao, F., 2017
A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017
Restarting Anticoagulant Therapy after Intracranial Hemorrhage
Stroke 48:1594-1600, Murthy, S.B.,et al, 2017
Pregabalin Use Early in Pregnancy and the Risk of Major Congenital Malformations
Neurol 88:2020-2025, Patorno, E.,et al, 2017
A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017
Autoimmune Encephalitis: Pathophysiology and Imaging Review of an Overlooked Diagnosis
AJNR 38:1070-1078, Kelley, B.P.,et al, 2017
A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
A 58-year-old man with Progressive Ptosis and Walking Difficulty
Neurol 89:e1-e5, Kuo, P.,et al, 2017
A Demure Teenager and Her Dystonic Foot
Neurol 89:e71-e75, Cullinane, P.W.,et al, 2017
Long-Term Antithrombotic Treatment in Intracranial Hemorrhage Survivors with Atrial Fibrillation
Neurol 89:687-696, Korompoki, E.,et al, 2017
Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017
Diagnostic Challenges in a Young Patient with Hypereosinophilia
Neurol 89:e159-e165, Ortiz, J.G.,et al, 2017
Patent Foramen Ovale Closure or Anticoagulation Vs. Antiplatelets after Stroke
NEJM 377:1011-1021,1006,1093, Mas, J.L,et al, 2017
Patent Foramen Ovale Closure or Antiplatelet Therapy for Cryptogenic Stroke
NEJM 377:1033-1042,1006,1093, Sondergaard, L.,et al, 2017
A 57-year-old man with Unilateral Anosmia, Papilledema, and Meningismus
Neurol 89:e86-e90, Bradshaw, M.J.,et al, 2017
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
A 46-year-old man with Persistent Hiccups, Cognitive Dysfunction, and Imbalance
Neurol 89:e193-e196, Lamb, C.J.,et al, 2017
MR Neurography for the Diagnosis of Hypertrophic Neuropathies
Neurol 89:e201, Sgobbi de Souza, P.V.,et al, 2017
Hypoglossal Nerve Palsy due to Basilar Invagination
Neurol 89:e214-e215, Bakhsheshian, J.,et al, 2017
A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
Neurol 89:e220-e223, Xiao, F. & Wang, X.F., 2017
Maternal Use of antiepileptic Agents During Pregnancy and Major Congenital Malformations in Children
JAMA 318:1700-1701, Bromley, R.L.,et al, 2017
Should Patients with Ischemic Stroke or Transient Ischemic Attack with Atrial Fibrillation and Microbleeds be Anticoagulated?
Stroke 48:3408-3412, Shoamanesh, A.,et al, 2017
Oral Anticoagulants for Prevention of Stroke in Atrial Fibrillation: Systematic Review, Network Meta-Analysis, and Cost Effectiveness Analysis
BMJ 359:J5058, Lopez-Lopez, J.A.,et al, 2017
Paraneoplastic and Autoimmune Encephalitis
UptoDate July, Dalmau, J.,et al, 2017
Clinicopathologic Conference, Posterior Cortical Atrophy with Frontotemporal Lobe Dementia with Gene Mutation
JAMA Neurol 74:114-118, , 2017
Autoimmune Encephalitides: A Broadening Field of Treatable Conditions
Neurologist 22:1-13, Kalman, B., 2017
Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
Neurol 88:e26-e29, Qin, C.,et al, 2017
Optimal Timing of Anticoagulant Treatment after Intracerebral Hemorrhage in Patients with Atrial Fibrillation
Stroke 48:314-320, Pennlert, J.,et al, 2017
Stroke as the Initial Manifestation of Atrial Fibrillation
Stroke 48:490-492, Lubitz, S.A.,et al, 2017
Use of MRI in the Diagnosis of Fetal Brain Abnormalities in Utero (MERIDIAN): A Multicentre, Prospective Cohort Study
Lancet: 389:538-546,483, Griffiths, P.D.,et al, 2017