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
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Acromegaly
NEJM 393:1926-1939, Giustina,A. & Colao,A.,, 2025
A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
JAMA Neurol 82L:1286-1287, Liu,Y.,et al, 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
Current and Emerging Issues in Wilsons Disease
NEJM 389:922-938, Roberts,E.A. & Schilsky, M.L., 2023
A 63-Year-Old Woman Presenting with Bilateral Leg Pain
Neurol 96:343-348, Budhu, J.,et al, 2021
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Diagnostic Challenges in a Young Patient with Hypereosinophilia
Neurol 89:e159-e165, Ortiz, J.G.,et al, 2017
Progressive Development of Cardiomyopathy Following Altered Autonomic Activity in Status Epilepticus
Am J Physiol Heart Circ 309:1554-1564, Read, M.I.,et al, 2015
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
A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., et al, 2010
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
J Am Coll Cardiol 39:301-307, Maron,B.J.,et al, 2002
Clinicopath Conf
Systemic Amyloidosis with Involvement of Heart, Autonomic Nerves, Kidneys, and Lungs, Case 38-1992,, EJM 33-950,1992., 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Recurrent Cerebral Embolism in Cardiac Amyloidosis
Neurol 31:904-906, Rice,G.P.A.,et al, 1981