Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Clinicopathologic Conference, Amyotrophic Lateral Sclerosis
NEJM 380:1566-1574, Case 12-2019, 2019
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
A Child with Arthrogryposis
Neurol 91:e995-e998, Irumudomom, O. & Ghosh, P.S., 2018
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
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
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Neurologic Aspects of Inflammatory Bowel Disease
Neurol 45:416-421, Lossos,A.,et al, 1995
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Hypothyroidism
In Neurologic Clinics, W. B. Saunders Co, Phila, 7:492-493., Kaminski,H.J.&Ruff,R.L., 1989
The Lambert-Eaton Myasthenic Syndrome, A Review of 50 Cases
Brain 111, 577-5961988., O'Neill,J.H.,et al, 1988
Improved Neurologic Function After Long-Term Correction of Vitamin E Deficiency in Children with Chronic Cholestasis
NEJM 313:1580-1586, Sokol,R.J.,et al, 1985
Proximal Muscle Weakness in Uremia
Arch Neurol 37:555-558, Lazaro,R.P.,et al, 1980
Eosinophilic Polymyositis
Ann Neurol 1:65, Layzer,R.B.,et al, 1977
Case Records of the MassGeneral Hospital, Case 41-1975, Acute Intermittent Porphyria
NEJM 293:817, Woods,B., 1975