Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
Eosinophilic Polymyositis
Ann Neurol 1:65, Layzer,R.B.,et al, 1977
Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
Neurol 93:939-944, Torabi,T.,et al, 2019
Clinicopathologic Conference, Cushings syndrome due to a well-differentiated, low-grade thymic neuroendocrine tumor with corticotropin
NEJM 378:2322-2332, Case 18-2018, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Focal Neurologic symptoms in hypercalcemia
Neurol 30:200-201, Longo,D.L.,et al, 1980
Case Records of the MassGeneral Hospital, Case 41-1975, Acute Intermittent Porphyria
NEJM 293:817, Woods,B., 1975