Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
The Value of Transesophageal Echocardiography for Embolic Strokes of Undetermined Source
Neuol 87:988-995, Katsanos, A.H.,et al, 2016
Screening with MRI for Accurate and Rapid Stroke Treatment
Neurol 84:2438-2444, 2394, Shah, S.,et al, 2015
Newborn Screening for Fragile X Syndrome
JAMA Neurol 71:355-359, Tassone, F., 2014
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
Stroke 43:2871-2876, Pescini, F.,et al, 2012
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
Pulmonary AVMs, including hereditary hemorrhagic telangiectasia: Diagnosis and Treatment
UpTo Date, August, Gossage, J.R., 2010