Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Heterogeneity of Coenzyme Q10 Deficiency
Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012
Mitochondrial Respiratory-Chain Diseases
NEJM 348:2656-2668, DiMauro,S. &Schon,E.A., 2003
Is There a Gulf War Syndrome? Searching for Syndromes by Factor Analysis of Symptoms
JAMA 227:215-222, 2591997., Haley,R.W.,et al, 1997
Self-Reported Exposure to Neurotoxic Chemical Combinations in the Gulf War:A Cross-Sectional Epidemiologic Study
JAMA 227:231-237, 2591997., Haley,R.W.&Kurt,T.L., 1997
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Brain Metabolism in Mitochondrial Encephalomyopathy:A PET Study
J Comput Assist Tomogr 12:854-857, DeVolder,A.,et al, 1988
Clinicopath Conf
Kearns-Sayre Syndrome (Oculocraniosomatic Neuromuscular Disease with Mitochondrial Myopathy) , Case, 4-1,NEJM 317:493-501,1987., 1987
Unusual Neurotoxicity Associated with Amiodarone Therapy
Arch Int Med 147:881-884, Palakurthy,P.R.,et al, 1987
Neurotoxicity of Commonly Used Antineoplastic Agents
NEJM 291:75, 1271974., Weiss,H.,et al, 1974
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Clinicopathologic Conference, Functional Vitamin B12 Deficiency from Use of Nitrous Oxide
NEJM 388:1893-1900, Case 15-2023, 2023
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
Extracranial Etiology of Acute Onset Ataxia and Weakness
Neurol 99:898-899, Nordli,D.,et al, 2022
Pyruvate Dehydrogenase Deficiency (PDCD)
eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018
A Woman in Her 60s with Chronic Meningitis from Aspergillus
JAMA Neurol 74:348-352, Pichler, M.R.,et al, 2017
A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 2017
A 54-year-old woman with Dementia, Myoclonus, and Ataxia
Neurol 89:e7-e12, Ali, F.,et al, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017
Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin E Deficiency
Adams & Victors Principles of Neurology Chp 41, pg 1176, Ropper, A.H.,et al, 2014
Cognitive Delay in a 7-year-old Girl
Neurol 81: e148-e150, Cachia, D. & Stine, C., 2013
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Clinicopath Conf, Intravascular Large-B-Cell Lympoma
NEJM 362:1129-1138, Case 9-2010, 2010
3-Methylglutaconic Aciduria Type I Redefined: A Syndrome With Late-Onset Leukoencephalopathy
Neurol 75:1079-1083, Wortmann,S.B.,et al, 2010
Cogan Syndrome
www.medlink.com, Feb, Ramachandran, T.S., 2010
Primary Central Nervous System Post-Transplantation Lymphoproliferative Disorder
CANCER 16:863-870, Cavaliere, R.,et al, 2010
A 41-Year-Old Woman with Progressive Leg Weakness and Numbness, Dizziness, and Myalgia
Neurol 72:1262-1276, DiMauro,S.,et al, 2009
Age and High-Dose Methotrexate are Associated to Clinical Acute Encephalopathy in FRALLE 93 Trial for Acute Lymphoblastic Leukemia in Children
Leukemia 21:238-247, Dufourg, M.N.,et al, 2007
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Treatment-Induced Leukoencephalopathy in Primary CNS Lymphoma,A Clinical and Autopsy Study
Neurol 62:451-456, Lai,R.,et al, 2004
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
The Neurological Complications of Bariatric Surgery
Arch Neurol 61:1185-1189, Berger,J.R., 2004
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Clinical Manifestations of Sarin Nerve Gas Exposure
JAMA 290:659-662, Lee,E.C., 2003
Biochemical And Clinical Aspects of Methotrexate Neurotoxicity
Chemotherapy 49:92-104, Vezmar,S.,et al, 2003
Symmetric Deep Cerebellar Lesions After Smoking Heroin
Arch Neurol 60:1605-1606, Ropper,A.H. &Blair,R., 2003
Reversible Metronidazole-Induced Lesions of the Cerebellar Dentate Nuclei
NEJM 346:68-69, Woodruff,B.K.,et al, 2002
Friedreich Ataxia
Arch Neurol 59:743-747, Lynch,D.R.,et al, 2002
Neurological Presentation of Fabry's Disease in a 52 Year Old Man
JNNP 73:340-342, Mohanraj,R.,et al, 2002
A Six-Year-Old Girl with Tick paralysis
NEJM 342:90-94, Felz,M.W.,et al, 2000
Nitrous Oxide Anesthesia-Associated Myelopathy
ArchNeurol 57:380-382, Marie,R.,et al, 2000
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Clinicopath Conf,Multifocal Inflammatory Leukoencephalopathy Related to Combination Chemo with Fluorouracil/levamisole
NEJM 341:512-519, Case 24-1999, 1999
Leukoencephalopathy and Raised Brain Lactate from Heroin Vapor Inhalation ("Chasing the Dragon")
Neurol 53:589-1048, Kriegstein,A.R., et al, 1999
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Myelopathy Caused by Nitrous Oxide Toxicity
AJNR 19:894-896, 9941998., Pema,P.J.,et al, 1998