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
Clinicopathological Conference, Eosinophilic meningitis due to Angiostrongylus cantonensis infection
NEJM 392:699-709, Case 5-2025, 2025
A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
Neurol 105:e213970, Westendfortp,W.F.,et al, 2025
A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Fluorodeoxyglucose PET/CT as Possible Early Diagnostic Tool Preceding MRI Changes in Borna Disease Virus 1 Encephalitis
Lancet 403:665-666, Bayas, A., et al, 2024
Monkeypox-Associated Central Nervous System Disease:A Case Series and Review
Ann Neurol 93:893-905, Money,K.M.,et al, 2023
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Neuroimaging Findings in Parechovirus Encephalitis: A Case Series of Pediatric Patients
Pediatr Neurol 130:41-45, Tierradentro-Garcia, L.O.,et al, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Wilson Disease Presenting with Catatonia
Neurol 96:e2781-e2782, Patel, R.A. & Bailey, M., 2021
A Middle-Aged Man with New Onset Seizures and Myoclonic Jerks
Neurol 92:e274-e281, Chen, Z. & Neo, S., 2019
Acute Encephalitis in Immunocompetent Adults
Lancet 393:702-716, Venkatesan, A.,et al, 2019
Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN
Neurol 90:974-976, Ishiyama, A.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Clinicopathologic Conference, Vascular Malformations in Liver, Stomach, Esophagus, and Lungs that are Consistent with Hereditary Hemorrhagic Telangiectasia, Complicated
NEJM 376:972-980, Case 7-2017, 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016
A Young Man with Progressive Vision and Hearing Loss
JAMA Neurol 73:880-883, Kung, N.H.,et al, 2016
Clinicopathologic Conference, CAT Scratch Disease (Encephalopathy Associated with Bartonella Henselae)
NEJM 372:2050-2058, Case 16-2015, 2015
A 27-Year Old Man with Rapidly Progressive Coma
Neurol 85:e74-e78, Wong,J.M.,et al, 2015
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Creutzfeldt-Jakob Disease (Subacute Spongiform Encephalopathy)
Adams & Victors Principles of Neurology, Chp 33, pg 769, Ropper, A.H.,et al, 2014
Infections of the Nervous System, (Bacterial, Fungal, Spirochetal, Parasitic) and Sarcoidosis, Catscratch Fever (Bartonella Henselae)
Adams & Victors Principles of Neurology, Chp 32, pg 710, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Pyridoxine Dependent Seizures
Adams & Victors Principles of Neurology, Chp 37, pg 951, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014
Human Herpes 6 Virus Encephalitis Complicating Allogeneic Hematopoietic Stem Cell Transplantation
Neurol 80:1494-1500, Bhanushali, M.,et al, 2013
Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013
Progressive Gait Deterioration in Adolescents with Dravet Syndrome
Arch Neurol 69:873-878, Rodda, J.M.,et al, 2012
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009
The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Transmissible Spongiform Encephalopathy in the 21st Century: Neuroscience for the Clinical Neurologist
Neurol 70:713-722, Brown,P., 2008
Natural History of Nonketotic Hyperglycinemia in 65 Patients
Neurol 63:1847-1853, Hoover-Fong,J.E.,et al, 2004
Autosomal Dominant Acute Necrotizing Encephalopathy
Neurol 61:226-230, Neilson,D.E.,et al, 2003
The Clinicopathological Spectrum of Rosenthal Fibre Encephalopathy and Alexanders Disease: A Case Report and Review of the Literature
JNNP 74:807-810, Jacob,J.,et al, 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
Coma in a Young Anorexic Woman
Lancet 357:1944, Blans,M.J.,et al, 2001
Diagnosis and Treatment of Acute Encephalitis
The Neurologist 6:145-159, Davis,L.E., 2000
Atypical Herpes Simplex Virus Encephalitis Diagnosed by PCR Amplification of Viral DNA from CSF
Neurol 51:554-559, Fodork,P.A.,et al, 1998
Pertussis Encephalopathy with High Cerebrospinal Fluid Antibody Titers to Pertussis Toxin and Filamentous Hemagglutinin
Pediatrics 102:986-990, Grant,C.C.,et al, 1998
Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998
Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998
Clinicopath Conf
Genetic Hemochromatosis, Micronodular Cirrhosis of Liver, Case 10-1997, NEJM 336:939-94797., , 1997