Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Acromegaly
NEJM 393:1926-1939, Giustina,A. & Colao,A.,, 2025
Extrapulmonary Manifestations of Sarcoidosis
Rheum Dis Clin North Am 39:277-297, Rao,D.A. & Dellaripa,P.F., 2023
Clinicopathologic Conference, Systemic Immunoglobulin Light-Chain (AL) Amyloidosis
NEJM 389:166-175, Case 21-2023, 2023
MELAS
MedLink.com, August, Klopstock, T., 2012
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Myasthenic Symptoms in Patients with Mitochondrial Myopathies
Muscle & Nerve 18:1338-1340, LeForestier,N.,et al, 1995
Neurosarcoidosis:Signs, Course and Treatment in 35 Confirmed Cases
Medicine 69:261-276, Chapelon,C.,et al, 1990
Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
Neurol 28:1135-1140, Dobkin,B.H.,et al, 1978
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
Molecular and Neurological Features of MELAS Syndrome in Paediatric Patients: A Case Series and Review of the Literature
Mal Genet Genomic Med 10:e1955, Seed,L.M.,et al, 2022
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Hearing and Vision Loss in an Older Man
JAMA Neurol 75:1439-1440, Ho, V.M.,et al, 2018
Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018
Clinical Outcomes after Neurogenic Stress Induced Cardiomyopathy in Aneurysmal Sub-Arachnoid Hemorrhage: A Prospective Cohort Study
Clin Neurol Neurosurg 128:4-9, Kilbourn, K.J.,et al, 2015
Alcohol and Alcoholism
Adams & Victors Principles of Neurology Chp 42, pg 1186, Ropper, A.H.,et al, 2014
An Unusual Cause of Cardioembolic Stroke
Neurologist 14:125-127, Sahin, S.,et al, 2008
Wolff-Parkinson-White Syndrome in Patients with MELAS
Arch Neurol 64:1625-1627, Sproule,D.M.,et al, 2007
Stroke in Pediatric Acquired Immunodeficiency Syndrome
Ann Neurol 28:303-311, Park,Y.D.,et al, 1990
Echocardiography
NEJM 323:165-172, Popp,R.L., 1990
The Effects of Alcoholism on Skeletal and Cardiac Muscle
NEJM 320:409-415, 458-4601989., Urbano-Marquez,A.,et al, 1989
Friedreich Ataxia
In Rowland, L. P. Merritt's Textbook of Neurology, 8th Ed, Lea & Febiger, Phila, Ch 13, p627, Rosenberg,R.N., 1989
Chloroquine Neuromyotoxicity, Clinical & Pathological Perspective
Am J Med 82:447-455, Estes,M.L.,et al, 1987
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987
Nemaline Myopathy with Associated Cardiomyopathy, Report of Clinical & Detailed Autopsy Findings
Arch Neurol 42:1084-1086, Stoessl,A.J.,et al, 1985
Nemaline Myopathy Appearing in Adults as Cardio-myopathy
Arch Neurol 41:443-445, Meier,C.,et al, 1984
Nemaline Myopathy Presenting as Cardiomyopathy
NEJM 308:1536-1537, Meier,C.,et al, 1983