Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
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
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
A 66-Year-Old Woman With Progressive Encephalopathy and Bilateral Hearing Loss
Neurol 100:254-258, Rivers,D.,et al, 2023
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Hearing and Vision Loss in an Older Man
JAMA Neurol 75:1439-1440, Ho, V.M.,et al, 2018
Cogan Syndrome An Analysis of Reported Neurological Manifestations
The Neurologist 18:55-63, Antonios,N. and Silliman,S., 2012
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Clinicopathologic Conference, Susacs Syndrome (retinocochleocerebral vasculopathy)
NEJM 365:549-559, Case 24-2011, 2011
Sjogren Syndrome: Neurologic Complications
www.Medlink.com,Jan, Roman,G.C., 2010
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Microangiopathy of the Brain, Retina, and Ear:Improvement without Immunosuppressive Therapy
Stroke 22:933-937, Gordon,D.L.,et al, 1991
Clinicopath Conf
Kearns-Sayre Syndrome (Oculocraniosomatic Neuromuscular Disease with Mitochondrial Myopathy) , Case, 4-1,NEJM 317:493-501,1987., 1987
Cogan's Syndrome:18 Cases & a Review of the Literature
Mayo Clin Proc 61:344-361, Vollertsen,R.S.,et al, 1986
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
A 24-Year-Old Pregnant Woman with Headache and Behavioral Change Progressing to Coma
Neurol 101:e2331-e2337, Barnardes,C.,et al, 2023
Clinicopathologic Conference, Neurosyphilis
NEJM 386:583-590, Case 4-2022, 2022
A 49-Year-OLD Woman with Progressive Numbness and Gait Instability
Neurol 97:342-347, Zahid, A.,et al, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Migraine, hearing loss, and blurred vision in a young woman
Neurol 95:e2945-e2950, Sasikumar, S.,et al, 2020
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Neurological Manifestations Among US Government Personnel Reporting Directional Audible and Sensory Phenomena in Havana, Cuba
JAMA 319:1125-1133, 1098, 1079, Swanson, R.L.,et al, 2018
Clinicopathologic Conference, Susacs Syndrome
NEJM 379:2152-2159, Case 37-2018, 2018
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A 37-Year-Old Man with Multiple Cranial Neuropathies
Neurol 86:e66-e70, OLoghlen, S.,et al, 2016
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Sarcoidosis
Adams & Victors Principles of Neurology, Chp 32, pg 721, Ropper, A.H.,et al, 2014
Bilirubin-Induced Neurologic Damage - Mechanisms and Management Approaches
NEJM 369:2021-2030, Watchko, J.F.,et al, 2013
Cogan Syndrome
www.medlink.com, Feb, Ramachandran, T.S., 2010
Carbon Monoxide Poisoning
NEJM 360:1217-1225, Weaver,L.K., 2009
A 28-Year-Old Pregnant Woman with Encephalopathy
Neurol 73:e74-e79, Grinspan,Z.,et al, 2009
Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006
Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 2005
Update on Susacs Syndrome
Curr Opin Neurol 18:311-314, Gross,M. &Eliashar,R., 2005
Susac Syndrome:Report of Four Cases and Review of the Literature
AJNR 25:382-388,351, Do,T.H.,et al, 2004
Neurologic Manifestations in Primary Sjogren Syndrome: A Study of 82 Patients
Medicine 83:280-291, Delalande,S.,et al, 2004
MRI Findings in Susac's Syndrome
Neurol 61:1783-1787, Susac,J.O.,et al, 2003
Susac Syndrome
Medicine 77:3-11, Papo,T.,et al, 1998
Acute Leukoencephalopathies:Differential Diagnosis and Investigation
The Neurologist 4:148-166, Weinshenker,B.G.,et al, 1998
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
Bilirubin Metabolism and Kernicterus
Adv Pediatr 44:173-229, Gourley,G.R., 1997
Neurologic Aspects of Inflammatory Bowel Disease
Neurol 45:416-421, Lossos,A.,et al, 1995
Adverse Outcomes of Bacterial meningitis in School-Age Survivors
Pediatrics 95:646-655, Grimwood,K.,et al, 1995