Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
NEJM 368:1971-1979, Shirley, M.,et al, 2013
Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
Ann Neurol 68:92-101, Kim,S.-K., et al, 2010
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
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
Pulmonary Arteriovenous Malformations
Neurol 55:959-964, Moussouttas,M.,et al, 2000
Adult-Onset MELAS Presenting as Herpes Encephalitis
Arch Neurol 56:241-243, Sharfstein,S.R.,et al, 1999
Prethrombotic Disorders in Children with Arterial Ischemic Stroke and Sinovenous Thrombosis
Arch Neurol 56:967-971, Bonduel,M.,et al, 1999
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
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
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Familial Sneddon's Syndrome:Clinical, Hematologic, and Radiographic Findings in Two Brothers
Neurol 44:399-405, Pettee,A.D.,et al, 1994
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
Cerebral Cavernous Malformations:Incidence and Familial Occurrence
NEJM 319:343-347, Rigamonti,D.,et al, 1988
Livedo Reticularis, Porcelain-White Scars, and Cerebral Thromboses
Lancet 1:1263-1265, Burton,J.L., 1988
Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
Brain 106:965-979, Rebollo,M.,et al, 1983
Von Recklinghausen Neurofibromatosis
NEJM 305:1617-1627, Riccardi,V.M., 1981
Systematic Genetic Assessment in Young Patients with Cryptogenic Stroke: The ES-EASY Project
Stroke 57:148-156, Mania-Paris,L.,et al, 2026
Collaboration on the Optimal Timing of Anticoagulation after Ischaemic Stroke and Atrial Fibrillation:A Systematic Review and Prospective Individual Participant Data Meta-Analysis of Randomised Controlled Trials (CATALYST)
Lancet 406:43-51, Dehbi,K-M.,et al, 2025
Multivessel Cerebral Occlusion in Noonan Syndrome
Stroke 56:e359-362, deLima, M.M.,et al, 2025
Apixaban to Prevent Recurrence After Cryptogenic Stroke in Patients with Atrial Cardiopathy, The ARCADIA Randomized Clinical Trial
JAMA 331:573-581, Kamel,H.,et al, 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
Andexanet for Factor Xa Inhibitor-Associated Acute Intracerebral Hemorrhage
NEJM 390:1745-1755, 1815, Connolly,S.J.,et al, 2024
Mechanical Thrombectomy in Anticoagulated Patients with Acute Ischemic Stroke, A Meta-Analysis
Neurologist 29:194-203, Zhang,H.L.,et al, 2024
A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
Neurol 103:e209796, Bouchart,J.,et al, 2024
Thrombolysis After Dabigatran Reversal for Acute Ischemic Stroke
Neurol 103:e209862, Theodorou,A.,et al, 2024
Optimal Timing of Anticoagulation after Acute Ischaemic Stroke with Atrial Fibrillation (OPTIMAS): A Multicentre, Blinded-Endpoint, Phase 4, Randomised Controlled Trial
Lancet 404:1731-1741, Werring,D.J.,et al, 2024
RNF213 Polymorphisms in Intracranial Artery Dissection
Genes doi.org/10.3390/genesis 15060725, Zedde,M.,et al, 2024
Neurologic Manifestations of Hyperthyroidism and Graves Disease
www.UptoDate.com, Oct 28, Rubin,D.I., 2024
Intravenous Thrombolysis in Patients with Ischemic Stroke and Recent Ingestion of Direct Oral Anticoagulants
JAMA Neurol 80:233-243, 231, Meinel,T.R.,et al, 2023
A Managed Care System with Telemedicine Support for Neurological Emergencies
Ann Neurol 93:511-512, Erdur,H.,et al, 2023
Brain Abscess and Stroke in Children and Adults with Hereditary Hemorrhagic Telangiectasia
Neurol 100:e2324-e2330, White,A.J.,et al, 2023
Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
A 56-Year-Old Man with Unusual Presentation of Subacute Encephalopathy and Seizure
Neurol 98:e95-e102, Wang, T.,et al, 2022
Stroke Mimics in the Acute Setting: Role of Multimodal CT Protocol
AJNR 43:216-222, Prodi, E.,et al, 2022
Cerebral Gnathostomiasis: An Unusual Course of Recurrent Hemorrhagic Stroke
Ann Neurol 92:107-109, Rattanawong, W.,et al, 2022
Functional Neurological Disorders
Neurologist 27:276-289, Mishra, A. & Pandey, S., 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Clinicopathologic Conference, Mycobacterium Tuberculosis Meningitis
NEJM 384:166-176, Case 1-2021, 2021
Diagnostic Accuracy Among Neurology Residents
Neurol 96:e1804-e1808, Schorr, E.M.,et al, 2021
Adults with Cerebral Palsy Require Ongoing Neurologic Care
Ann Neurol 89:860-871, Smith, S.E.,et al, 2021
Neurologic Involvement in Children and Adolescents Hospitalized in the United States for Covid-19 or Multisystem Inflammatory Syndrome
JAMA Neurol 78:536-547, LaRovere, K.L.,et al, 2021
Administering Thrombolysis for Acute Ischemic Stroke in Patients Taking Direct Oral Anticoagulants
JAMA Neurol 78:515-518, Seiffge, D.J.,et al, 2021