A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,et al, 2024
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era
JAMA Neurol 79:405-413, Morton, S.U.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
Neurol 77:522-523, Kwon, J.M.et al, 2011
Comparison of Clinical, Familial, and MRI Features of CADASIL and NOTCH3-Negative Patients
Neurol 74:57-63, Pantoni,L.,et al, 2010
Recent Advances in Neuroblastoma
NEJM 362:2202-2011, Maris,J.M., et al, 2010
Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
Review of Vitamin B12 Deficiency in Pregnancy:A Diagnosis Not to Miss as Veganism and Vegetarianism Become More Prevalent
Eur J Haematol 106:450-455, Rashid,S.,et al, 2021
Pernicious Anaemia
BMJ 369:m1319, Mohamed, M.,et al, 2020
Is It All Cerebral Toxoplasmosis?
Lancet 379:286, Mentzer,A.,et al, 2012
Screening for tumours in paraneoplastic syndromes: report of an EFNS Task Force
Eur J Neurol 18:19-27, Titulaer, M.J.,et al, 2011
Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome
The Neurologist 17:179-184, Comi, A.M., 2011
Positron Emission Tomography-Computed Tomography in Paraneoplastic Neurologic Disorders: Systematic Analysis and Review
Arch Neurol 67:322-329, McKeon,A.,et al, 2010
Detection of Unknown Primary Tumor in a Patient with Cerebellar Metastasis Using FDG PET-CT: Case Report
No Shinkei Geka 34:1027-1032, Ishiguro,T.,et al, 2006
Whole-Body MRI and PET-CT in the Management of Cancer Patients
Eur Radiol 16:1216-1225, Schmidt,G.P.,et al, 2006
Unknown Primary Tumors: Detection with Dual-Modality PET/CT--Initial Experience
Radiology 234:227-234, Gutzeit,A.,et al, 2005
A New Cause of Limbic Encephalopathy
Brain 128:1745-1746, Darnell,R.B., et al, 2005