A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Severe Vitamin B12 Deficiency Presenting as Pancytpenia, Hemolytic Anemia, and Parasthesia:Could Your B12 Be Any Lower?
Cureus doi:10.7759/cureus 29225, Pelling,M.M., et al, 2022
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
A 65-Year-Old Woman with Cancer History and Wrist Drop
Neurol 99:570-576, Merrill, R.,et al, 2022
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinicopathologic Conference, HIV Type 2 Infection & Cerebral Toxoplasmosis
NEJM 383:859-866, Case 27-2020, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
Pyogenic Brain Abscesses in a Patient with Digital Clubbing
JAMA Neurol 77:129-130, Paliwal, V.K.,et al, 2020
Clinicopathologic Conference, Creutzfeldt-Jakob Disease
NEJM 381:1569-1578, Case 32-2019, 2019
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Pes Cavus and Neuropathy
Neurol 93:e823-e826, Alderson,J.,& Ghosh,P.S., 2019
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
A 58-year-old Woman with Systemic Scleroderma and Progressive Cervical Cord Compression
Neurol 91:e1262-e1264, Karschnia, P.,et al, 2018
Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
Neurol 90:e172-e176, Roy, B. & Raynor, E., 2018
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
A 60-year-old man with arm weakness and numbness
Neurol 90:190-196, Foster, L.A.,et al, 2018
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
A 52-year-old woman with a 3 weeks of progressive gait ataxia and dysarthria
Neurol 90:e985-e989, Ly, C.,et al, 2018
Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype
Neurol 90:e1596-e1604, Dai, S.,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
Wilson Disease
Yamada Textbook of Gastroenterology Chp 102, Metabolic Diseases of Liver, 6th Ed, Sunderam, S.S., & Sokol, R.J., 2016
Pseudoradial Nerve Palsy Caused by Acute Ischemic Stroke
J Invest Med Case Report doi:10.1177/2324709616658310, Tahir, H.,et al, 2016
Differential Diagnosis
Thoracic Key, Southerland,A.W.,et al, 2016
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Short Stature, Imperforate Anus, and Polydactyly
Neurol 84:e117, Dumitrascu, O.,et al, 2015
A 75-year-old man with 3 years of Visual Difficulties
Neurol 83:e160-e165, Berkowitz, A.L.,et al, 2014
Degenerative Diseases of the Nervous System, Hereditary Spastic Paraplagia
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Neurological Acro-Osteolysis
BMJ 348:g473, Mitchell, L.,et al, 2014
Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
Adams & Victors Principles of Neurology, Chp 39, pg 1109, Ropper, A.H.,et al, 2014
Clinicalpathologic Conference, Vitamin B12 Deficiency due to Pernicious Anemia
NEJM 366:1626-1633, Case 13-2012, 2012
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Clinicopathologic Conference, Sjogrens syndrome with dorsal-root ganglionitis
NEJM 364:1856-1865, Case 14-2011, 2011
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
An Unusual Cause of Pseudomedian Nerve Palsy
Case Reports Neurol Med doi:10.1155/2011/474271, Manjaly, Z.M.,et al, 2011
A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., et al, 2010
Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
NEJM 362:2213-2219, Case 17-2010, 2010
Valproic Acid Monotherapy in Pregnancy and Major Congenital Malformations
NEJM 362:2185-2193, Jentink,J., et al, 2010
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
A 49-Year-Old Man with Contractures, Weakness, and Cardiac Arrhythmia
Neurol 72:2036-2043, Kissel,J.T.,et al, 2009
Lyme Neuroborreliosis: Manifestations of a Rapidly Emerging Zoonosis
AJNR 30:1079-1087, Hildenbrand,P.,et al, 2009
Ischemic Stroke of the Cortical "Hand Knob" Area: Stroke Mechanisms and Prognosis
J Neurol 256:1146-1151, Peters, N.,et al, 2009
Congenital Muscular Dystrophy
eMedicine (Jan), Lopate,G., 2007
Clinicopath Conf., Severe Microangiopathy of Diabetic Vasculopathy with Multiple Cerebral Infarcts
NEJM 357:164-173, Case Study 21-2007, 2007
Clinicopath Conf., Multifocal Motor Neuropathy With Conduction Block
NEJM 357: 2707-2715, Case 40-2007, 2007
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006