Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Neurobrucellosis:Clinical and Neuroimaging Correlation
AJNR 25:395-401, Al-Sous,M.W.,et al, 2004
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Adult-Onset MELAS
Stroke 27:1420-1423, Gilchrist,J.M.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Neurological Involvement in Wegener's Granulomatosis:An Analysis of 324 Consecutive Pts at the Mayo Clin
Neurol 33:4-9, Nishino,H.,et al, 1993
Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
(Ed) , 4th edition, The C. V. Mosby Company St. Louis, Chap. 8, pp. 390. , 1972, McKusick,V.A., 1972
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Clinical Manifestations and Diagnostic Challenges in a 16-Year-Old With Early-Onset Ataxia
Neurol 104:e210253, Chadha,D.,et al, 2024
Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
A 66-Year-Old Woman With Progressive Encephalopathy and Bilateral Hearing Loss
Neurol 100:254-258, Rivers,D.,et al, 2023
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
Bilateral Hearing Loss and Constricted Visual Fields
BMJ 378:e070672, Sachdeva, G. & Shafquat, S., 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Chronic Meningitis
NEJM 385:930-936, Aksamit, A.J., 2021
Delayed Complications of Cranial Irradiation
www.UptoDate.com, May, Dietrich, J.,et al, 2019
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Clinicopathologic Conference, Susacs Syndrome
NEJM 379:2152-2159, Case 37-2018, 2018
Snowball-like Lesions with Sudden Hearing Loss
Neurol 82:e100, Oliveira, P. & Mayeux, J., 2014
Acoustic Apoplexy: An Acute Complication of a Common Intracranial Tumour
BMJ 348:g3268, Hollingworth, M.A.,et al, 2014
Cortical and Cerebellar Hypometabolism After Bilateral Antero-Inferior Cerebellar Artery Infarct
Neurol 78:69-70, Ayrignac, X.,et al, 2012
Cogan Syndrome An Analysis of Reported Neurological Manifestations
The Neurologist 18:55-63, Antonios,N. and Silliman,S., 2012
Clinicopathologic Conference, Susacs Syndrome (retinocochleocerebral vasculopathy)
NEJM 365:549-559, Case 24-2011, 2011
Cogan Syndrome
www.medlink.com, Feb, Ramachandran, T.S., 2010
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
A 28-Year-Old Pregnant Woman with Encephalopathy
Neurol 73:e74-e79, Grinspan,Z.,et al, 2009
Sudden Sensorineural Hearing Loss Increases the Risk of Stroke: A 5-Year Follow-Up Study
Stroke 39:2744-2748, Lin,H.-C.,et al, 2008
Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Community-Acquired Bacterial Meningitis in Adults
NEJM 354:44-53, van de Beek,D.,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
Sensorineural Hearing Loss in Children
Lancet 365:879-890, Smith, R.J.H.,et al, 2005
Sudden Deafness From Stroke
Neurol 64:1817-1818, Leussink,V.,et al, 2005
Clinicopath Conf., MELAS Syndrome
NEJM 353:2271-2280, Case 36-2005, 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
Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
J Pediatr 140:242-246, Wolf,B.,et al, 2002
Bilateral Sudden Deafness as a Prodrome of Anterior Inferior Cerebellar Artery Infarction
Arch Neurol 58:1287-1289, Lee,H.,et al, 2001
Internal Auditory Artery Infarction,Clinicopathologic Correlation
Neurol 52:40-44, Kim,J.S.,et al, 1999
Superficial Siderosis of the CNS Associated with Multiple Cavernous Malformations
AJNR 20:1245-1248, Whu,W.C.,et al, 1999
Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Susac Syndrome
Medicine 77:3-11, Papo,T.,et al, 1998