Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
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
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 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
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
Alcohol and Alcoholism
Adams & Victors Principles of Neurology Chp 42, pg 1186, Ropper, A.H.,et al, 2014
MELAS
MedLink.com, August, Klopstock, T., 2012
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 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
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Neurosarcoidosis:Signs, Course and Treatment in 35 Confirmed Cases
Medicine 69:261-276, Chapelon,C.,et al, 1990
Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
P. D. , et al, Muscle & Nerve 10:114-120, , 1987
Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
Neurol 28:1135-1140, Dobkin,B.H.,et al, 1978
A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
JAMA Neurol 82L:1286-1287, Liu,Y.,et al, 2025
Clinicopathologic Conference, Reversible Cerebral Vasoconstriction Syndrome with Takotsubo Cardiomyopathy
NEJM 390:2108-2118, Case 18-2024, 2024
Progressive Proximal Weakness in a 61-Year-Old Man
Neurol 98:122-127, Yu, M.,et al, 2020
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
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
Diagnostic Challenges in a Young Patient with Hypereosinophilia
Neurol 89:e159-e165, Ortiz, J.G.,et al, 2017
Cardiovascular Dysfunction in Multiple Sclerosis
Neurologist 20:108-114, Kaplan, T.B.,et al, 2015
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
Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014
Guidelines for the Prevention of Stroke in Patients With Stroke or Transient Ischemic Attack: A Guideline for Healthcare Professionals From the American Heart Association/American Stroke Association
Stroke 42:227-276, Furie,K.L.,et al, 2011
Autoimmune Targets of Heart and Skeletal Muscles in Myasthenia Gravis
Arch Neurol 66:1334-1338, 1322, Suzuki,S.,et al, 2009
Wolff-Parkinson-White Syndrome in Patients with MELAS
Arch Neurol 64:1625-1627, Sproule,D.M.,et al, 2007
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Hypertrophic Cardiomyopathy A Systematic Review
JAMA 287:1308-1320, Maron, B.J., 2002
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Difficult Asthma or Churg-Strauss Syndrome? Steroids May be Masking Undiagnosed Cases of Churg-Strauss Syndrome
BMJ 318:475-476, D'Cruz,D.P.,et al, 1999
Churg-Strauss Syndrome, Clinical Study and Long-Term Follow-Up of 96 Patients
Medicine 78:26-37, Guillevin,L.,et al, 1999
Autosomal Dominant Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy Linked to Chromosome 10q
Ann Neurol 46:684-692,681, Melberg,A.,et al, 1999
Incidence of Dilated Cardiomyopathy and Detection of HIV in Myocardial Cells of HIV-Positive Patients
NEJM 339:1093-1099,1153, Barbaro,G.,et al, 1998
Development of Cardiomyopathy in Female Carriers of Duchenne and Becker Muscular Dystrophies
JAMA 275:1335-1338, Politano,L.,et al, 1996
Cerebral Infarction Associated with Kearns-Sayre Syndrome-Related Cardiomyopathy
Neurol 46:826-828, Provenzale,J.M.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Neurologic Complications of Pediatric Heart Transplantation
Arch Pediatr Adolesc Med 148:973-979, Lynch,B.J.,et al, 1994
Sudden Death of a Carrier of X-Linked Emery-Dreifuss Muscular Dystrophy
Ann Int Med 119:900-905, Fishbein,M.C.,et al, 1993
The Heart in Myotonic Dystrophy
Editorial, Lancet 339:528-5291992., , 1992
Clinicopath Conf
Systemic Amyloidosis with Involvement of Heart, Autonomic Nerves, Kidneys, and Lungs, Case 38-1992,, EJM 33-950,1992., 1992
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Kearns-Sayre Syndrome and Dilated Cardiomyopathy
Neurol 40:553-554, Tveskov,C.&Angelo-Nielsen,K., 1990
Stroke in Pediatric Acquired Immunodeficiency Syndrome
Ann Neurol 28:303-311, Park,Y.D.,et al, 1990