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
Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
AJNR 38:1467-1474, Bond, K.M.,et al, 2017
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Proton MR Spectroscopy in the Diagnostic Evaluation of Suspected Mitochondrial Disease
AJNR 24:33-41, Lin,D.D.M.,et al, 2003
Diagnostic Approach in Patients with Symmetric Imaging Lesions of the Deep Gray Nuclei
The Neurologist 9:250-261, Finelli,P.F.&DiMario,Jr,F.J., 2003
A Forearm Exercise Screening Test for Mitochondrial Myopathy
Neurol 58:1533-1538, Jensen,T.D.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
Inclusion Body Myositis and Myopathies
Ann Neurol 38:705-713, Griggs,R.C.,et al, 1995
Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993
Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
Lancet 337:1311-1313, Hammans,S.R.,et al, 1991
Improved Molecular-Genetic Diagnosis of Leber's Hereditary Optic Neuropathy
NEJM 323:1488-1489, Johns,D.R., 1990
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026
CT Perfusion Abnormality in Hypoglycemic Focal Neurological Deficits
Stroke 57:e6-e7, Mikito,S.,et al, 2026
Automated Detection of Normal Pressure Hydrocephalus Using CT Imaging for Calculating the Ventricle-to-Subarachnoid Volume Ratio
AJNR 46:141-146, Knittel,J.J.,et al, 2025
Automated Idiopathic Normal Pressure Hydrocephalus Diagnosis via Artificial Intelligence-Based 3D T1 MRI Volumetric Analysis
AJNR 46:33-40, Lee,J.,et al, 2025
Clinicopathological Conference, Eosinophilic meningitis due to Angiostrongylus cantonensis infection
NEJM 392:699-709, Case 5-2025, 2025
A 26-Year-OldWoman with Headache and Eosinophilia
Neurol 104:e213434, Goh,W.G.W.,et al, 2025
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Unveiling the Clinical and Imaging Signatures of Intravascular Lymphoma of the Central Nervous System:A Multicentric Cohort Study
Ann Neurol 97:435-448, Berthet,E.,et al, 2025
Imaging Findings in Giant Cell Arteritis:Dont Turn a Blind Eye to the Obvious!
AJNR 46:457-464, Bathla,G.,et al, 2025
"Innumerable" lesion burden on brain MRI - a diagnostic approach
Diagnosis doi.org/10.1515/dx- 2025-2029, Finelli,P.F., 2025
Neuroimaging Spectrum of Erdheim-Chester Disease:An Image-Based Review
AJNR 46:1300-1308, Rai,P.,et al, 2025
Posterior Fossa Ring-Enhancing Lesions in the Adult Immunocompetent Host: Illustrative Cases, Systematic Review, and proposed Diagnostic Algorithm
AJNR 46:1534-1541, Van Boxstael,E.,et al, 2025
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Frequency and Diagnostic Implications of Paramagnetic Rim Lesions in People Presenting for Diagnosis to a Multiple Sclerosis Clinic
Neurol 105:e213912, Remner,B.,et al, 2025
Nontrauma-Associated Cerebral Fat Embolism Syndrome in Sickle Cell-Related Hemoglobinopathies: A Case Series and Systematic Review
AJNR 46:2000-2008, Shadmani,G.,etal, 2025
Diagnosis of Multiple Sclerosis: 2024 Revisions of the McDonald Criteria
Lancet Neurol 24:850-865, Montalban,X.,et al, 2025
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025
Neurosyphilis
Ann Neurol 98:1070-1076, Minter,D.J. & Chow,F.C., 2025
Acromegaly
NEJM 393:1926-1939, Giustina,A. & Colao,A.,, 2025
A 30-Year-Old Female Patient with Multiple Sclerosis Presenting with Rapidly Progressive Cranial Neuropathies, Weakness, and Ataxia
Neurol 105:e214429, Trentadue,T.,et al, 2025
Validation of the Boston Criteria Version 2.0 for Cerebral Amyloid Angiopathy in Patients Presenting with Intracerebral Hemorrhage
Neurol 104:e213460, Downes,M.H.,et al, 2025
Myelin Oligodendrocyte Glycoprotein Antibody - Associated Cerebral Cortical Encephalitis: A Case Report Highlighting Diagnostic Challenges and Therapeutic Implications
Front Immunol 16:1619807, Liu,M. & Li, D., 2025
The Optic Nerve Should Graduate to Be the Fifth Lesion Site for the Diagnosis of Multiple Sclerosis
Neurol 102:e207919, Galetta,S. & Brownlee, W., 2024
Clinicopathologic Conference, Infant Botulism, Case 3-2024
NEJM 390:358-366, Case 3-2024, 2024
Clinicopatholigical Conference, Plasmodium Falciparum Malaria
NEJM 309:549-556, Case 4-2024, 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
Primary Central Nervous System Lymphoma:Clinical Features, Diagnosis, and Extent of Disease Evaluation
www.UptoDate.com, Jan, Nayak,L & Batchelor,T., 2024
Diagnosis and Management of Cerebral Venous Thrombosis:A Scientific Statement From the American Heart Association
Stroke 55:e77-e90, Saposnik,G.,et al, 2024
Hidden Metastatic Lung Tumour Diagnosed by AI
Lancet 403:1299, Muroya,D.,et al, 2024
Magnetic Resonance Imaging Characteristics of LGl1-Antibody and CASPR2-Antibody Encephalitis
JAMA Neurol 81:525-533, Kelly,Mark J., et al, 2024
Imaging Outcomes of Emergency MR Imaging in Dizziness and Vertigo:A Retrospective Cohort Study
AJNR 45:819-825, Happonen,T.,et al, 2024