AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
Neurol 105:e213970, Westendfortp,W.F.,et al, 2025
A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025
A 9-Year-Old Girl with CNS Immune Dysregulation
Neurol 105:e213999, Marefi,A.,et al, 2025
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
GLP-1 Receptor Agonists in Idiopathic Intracranial Hypertension
JAMA Neurol 82:887-892, Sioutas,G.S.,et al, 2025
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
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
Neurol 102:e209190, Cheng,Y. & Zachariah,J., 2024
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Cavernous Maliformations of the Central Nervous System
NEJM 390:1022-1028, Smith,E.R., 2024
Anti-NMDA Receptor Encephalitis Presenting with Cerebellitis in a Pediatric Patient
Neurol 102:e209259, Moehlman,M. & Kornbluh,A.B., 2024
Roving Eye and Head in a Patient with Genetic Creutzfeldt-Jakob Disease
Neurol 102:e209385, Nishida,K.,, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Vascular Malformations of the Central Nervous System
www.UptoDate.Com, March, Singer,R.J.,et al, 2024
Intracranial Hypertension Associated with Poly-Cranio-Radicular-Neuropathies A Case Report and Review of the Literature
Neurologist 29:166-169, Eaton,J.E.,et al, 2024
A 24-Year-Old Man with Spastic Ataxia and Hypodontia
JAMA Neurol 81:658-659, Marien,L.,et al, 2024
Clinicopathologic Conference, Reversible Cerebral Vasoconstriction Syndrome with Takotsubo Cardiomyopathy
NEJM 390:2108-2118, Case 18-2024, 2024
Paraneoplastic Calmodulin Kinase-Like Vesicle-Associated Protein (CAMKV) Autoimmune Encephalitis
Ann Neurol 96:21-33, Gilligan,M.,et al, 2024
Genome Sequencing in the NICU and PICU is Here to Stay
Neurol 104:e210267, Hoffman,E.P. and Kesari,A., 2024
A 35-Year-Old Woman with Personality Change and Gait Impairment
Neurol 104:e210252, Bernardes,C.,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
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
Benign Enhancing Foramen Magnum Lesions
Neurol 103:e210083, Kogue,R.,et al, 2024
A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
Neurol 103:e210070, Lara,C.,et al, 2024
Tau Positron Emission Tomography for Predicting Dementia in Individuals with Mild Cognitive Impairment
JAMA Neurol 81:845-856, Groot,C.,et al, 2024
A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
Neurol 103:e2098-e2030, Jones,F.J.S. & Orthmann-Murphy,J., 2024
Rationale for Screening Children with Hereditary Hemorrhagic Telangiectasis for Brain Vascular Malformations
AJNR 45:1177-1184, Beslow,L.A.,et al, 2024
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome, A Systematic Review
Neurol 103:e209844, Dhawan,A.,et al, 2024
Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
NEJM 391:1015-1027, Al-Samkari,H.,et al, 2024
A 61-Year-Old Man With Progressive Right Leg Numbness and Weakness
Neurol 103:e209900, Jones,F.J.S.,et al, 2024
A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
Neurol 103:e209796, Bouchart,J.,et al, 2024
Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
Clinicopathologic Conference, Antiphospholipid Syndrome due to SLE with Hypocomplimentemia
NEJM 389: 2277-2285, Case 38-2023, 2023
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
A Young Man With Subacute Onset of Spastic Paraparesis
Neurol 100:199-205, Rossi,S.,et al, 2023
Cerebral Cystic Echinococcosis
NEJM 388:e10, Thakar,S. & Sunil,A., 2023
Cashew Nut Sign:A Concave Parenchymal Hemorrhage Caused by Cerebral Venous Thrombosis
Stroke 54:e38-e39, Schlechter,M.,et al, 2023
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
Long-Term Outcomes of Bariatric Surgery in Idiopathic Intracranial Hypertension Patients
Neurologist 28:87-93, Hermes,S.M.,et al, 2023
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Benign Enhancing Foramen Magnum Lesions
AJNR 44:999-1011, Mark,I.T.,et al, 2023
Clinicopathologic Conference,Limb-Shaking Transient Ischemia Attacks
NEJM 389:1416-1423, Case 31-2023, 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Salt and Pepper Sign, PLNTY for Drug-Resistant Epilepsy
Neurol 100:791-795, Paredes-Aragon,E.M.,et al, 2023