Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
An 81-Year-Old Woman with Chronic Isolated Neck Extensor Weakness
Neurol 106:e218060, Chen,J.,et al, 2026
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Diagnosis and Management of ANCA-Associated Vasculitis
Lancet 403:683-698, Kronbichler, A., 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
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Spontaneous Subarachnoid Haemorrhage
Lancet 400:846-862, Claassen, J. & Park, S., 2022
Clinicopathologic Conference, Granulomatosis with Polyangiitis
NEJM 387:1022-1032, Case 28-2022, 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Congenital Asymmetric Crying Facies Syndrome, A Case Report
Medicine 97:31(e11403), Liang,X. & He,B., 2018
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
Clinicopathologic Conference, Probable Acute Leptospirosis
NEJM 377:268-278, Case 22-2017, 2017
Clinical Manifestations and Evaluation of Adults with Suspected Native Valve Endocarditis
UpToDate Feb, Sexton, D.J. & Fowler,Jr., V.G., 2016
Spinal Cord Ischemia: Practical Imaging Tips, Pearls, and Pitfalls
AJNR 36:825-830, Vargas, M.I.,et al, 2015
Differential Diagnosis of Finger Drop
Neurologist 19:128-131, Varatharaj, A.,et al, 2015
Clinicopathologic Conference, Malaria
NEJM 373:1060-1067, Case 28-2015, 2015
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Polymyalgia Rheumatica
Lancet 381:63-72, Kermani, T. & Washington, K., 2013
MELAS
MedLink.com, August, Klopstock, T., 2012
New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010
Cogan Syndrome
www.medlink.com, Feb, Ramachandran, T.S., 2010
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010