Wilson Disease
NIDDK Oct2018, , 2018
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,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
Facial Myokymia and Myorhythmia in Anti-IgLON5 Disease
Neurol 91:e1659, Vetter, E.,et al, 2018
Spinal Brucellosis
NEJM 379:e28, Sacks, C.A., 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
A 22-year-old Man Presenting with Headache and Right Leg Jerks
Neurol 91:891-895, Schupper, A.J.,et al, 2018
MR Neurography of the Lumbosacral Plexus for Lower Extremity Radiculopathy: Frequency of Findings, Characteristics of Abnormal Intraneural Signal, and Correlation with Electromyography
AJNR 39:2154-2160, Chazen, J.L.,et al, 2018
Efficacy of Botulinum Toxin A for Treating Cramps in Diabetic Neuropathy
Ann Neurol 84:682-690, Restivo, D.A.,et al, 2018
Mystery Myelitis in Children
JAMA 320:2069, Kuehn, B., 2018
Progressive Gait Difficulty and Incontinence in a 40-year-old Man with HIV
Neurol 91:1065-1070, Silverman, A.,et al, 2018
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
Clinicopathologic Conference, Granulomatosis with Polyangiitis
NEJM 379:2452-2461, Case 39-2018, 2018
A young woman with symmetric weakness and behavioral disturbance
Neurol 90:e1442-e1447, Rosenberg, J.,et al, 2018
Palatal tremor as a presenting symptom of amyotrophic lateral sclerosis
Neurol 90:801-802, Maghzi, A.,et al, 2018
Toxidrome Recognition in Chemical - Weapons Attacks
NEJM 378:1611-1620, Ciottone, G.R., 2018
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Dysphagia and a rash
BMJ 361:k1590, McFarlane, M. & Disney, B., 2018
Clinicopathologic Conference, Digitalis Toxicity
NEJM 378:1931-1938, Case 15-2018, 2018
Persistent Respiratory Failure Following Cardiac Arrest
Neurol 90:e2174-e2178, Fullam, T. & Sladky, J.H., 2018
IgLON5-mediated neurodegeneration is a differential diagnosis of CNS Whipple disease
Neurol 90:1113-1115, Morales-Briceno, H.,et al, 2018
Clinicopathologic Conference, Cushings syndrome due to a well-differentiated, low-grade thymic neuroendocrine tumor with corticotropin
NEJM 378:2322-2332, Case 18-2018, 2018
Progressive Weakness and Memory Impairment in a Middle-aged Man
JAMA 320:197-198, DeFilippis, E.M.,et al, 2018
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
A Headache of a Diagnosis
NEJM 379:475-479, Stern,R.M.,et al, 2018
A Man with Rapidly Progressive Weakness and Respiratory Failure
Neurol 91:e686-e691, Xu,D.,et al, 2018
Glutamate Receptor D2 Serum Antibodies in Pediatric Opsoclonus Myoclonus Ataxia Syndrome
Neurol 91:e714-e723, Berridge, G.,et al, 2018
A Child with Arthrogryposis
Neurol 91:e995-e998, Irumudomom, O. & Ghosh, P.S., 2018
Immune Checkpoint Inhibitor-Related Myositis and Myocarditis in Patients with Cancer
Neurol 91:e985-e994, Touat, M.,et al, 2018
Young Adult with Dysphagia and Severe Weight Loss
Neurol 91:e1083-e1086, Irumudomon, O. & Ghosh, P.S., 2018
A 58-year-old Woman with Systemic Scleroderma and Progressive Cervical Cord Compression
Neurol 91:e1262-e1264, Karschnia, P.,et al, 2018
Clinical Reasoning: A 49-year-old man with Progressive Numbness, Weakness, and Evidence of Leptomeningeal Enhancement
Neurol 90:e90-e93, Lovett, A.,et al, 2018
A 60-year-old man with arm weakness and numbness
Neurol 90:190-196, Foster, L.A.,et al, 2018
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018
Clinicopathologic Conference, Human Herpesvirus 6-Related Meningoencephalitis
NEJM 378:659-669, Case 5-2018, 2018
Degenerative Cervical Myelopathy
BMJ 360:k186, Davies, B.M.,et al, 2018
Subacute Paresis in a 28-year-old man with HIV
Neurol 90:432-435, Harada, Y.,et al, 2018
Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Fulminant Encephalopathy with Unusual Brain Imaging in Disulfiram Toxicity
Neurol 90:518-519, Peddawad, D.,et al, 2018
A 42-year-old man with unilateral leg weakness
Neurol 90:e1085-e1090, Schneider, R.,et al, 2018
A 75-year-old man with parkinsonism, mood depression, and weight loss
Neurol 90:572-575, Frattini, E.,et al, 2018
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Clinicopathologic Conference, Granulomatous Amebic Encephalitis and Sarcoidosis (Inactive)
NEJM 376:368-379, Case 3-2017, 2017
Cerebral White Matter Abnormalities in Patients with Charcot-Marie-Tooth Disease
Ann Neurol 81:147-151, Lee, M.,et al, 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Clinical Decision-Making in Functional and Hyperkinetic Movement Disorders
Neurol 88:118-123,114, van der Salm, S.M.A.,et al, 2017
A 35-year-old Woman with Hyperstartling Stiffness, and Accidental Falls
Neurol 88:e38-e41, Russo, S.P.,et al, 2017
Cranial Nerve Hypertrophy in IgG4 Anti-Neurofascin 155 Antibody-Positive Polyneuropathy
Neurol 88:e52, Franques, J.,et al, 2017