Long-Term Effects of Antidarsagene Autotemcel for Metachromatic Leukodystrophy
NEJM 392:1609-1620, Fumagalli,F.,et al, 2025
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
An 11-year-old girl with focal seizures, fevers, and unilateral, enhancing cortical lesions
Neurol 95:e3153-e3159, Russ, J.B.,et al, 2020
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
NEJM 377:1648-1656, Blumcke, I.,et al, 2017
Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Late onset autism and anti-NMDA-receptor encephalitis
Lancet 378:98;378, Creten, C.,et al, 2011
Clinical Reasoning: A 9-year-old Girl With Seizures and Encephalopathy
Neurol 74:e97-e100, Nguyen,T.P. &El-Hakam,L.M., 2010
T2* and FSE MRI Distinguishes Four Subtypes of Neurodegeneration With Brain Iron Accumulation
Neurol 70:1614-1619, McNeill,A.,et al, 2008
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Post-Streptococcal Autoimmune Dystonia With Isolated Bilateral Striatal Necrosis
Dev Med Child Neurol 44:485-489, Dale,R.C.,et al, 2002
Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999
Why Would You Remove Half a Brain? Outcome of 58 Children after Hemispherectomy-Johns Hopkins 1968-96
Pediatrics 100:163-171, Vining,E.P.G.,et al, 1997
Subcortical Heterotopia:A Distinct Clinicoradiologic Entity
AJNR 17:1315-1322, Barkovich,A.J., 1996
Life Threatening Focal Status Epilepticus Due to occult Cortical Dysplasia
Arch Neurol 50:695-700, Desbiens,R.,et al, 1993
Magnetic Resonance Imaging in Childhood Intractable Partial Epilepsies:Pathologic Correlations
Neurol 43:681-687, Kuzniecky,R.,et al, 1993
Hypomelanosis of Ito
Editorial, Lancet 339:651-6521992., , 1992
Gray Matter Heterotopias:MR Characteristics & Correlation with Develop & Neurologic Manifest
Radiology 182:493-499, Barkovich,A.J.&Kjos,B.O., 1992
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Screening for Carriers of Tay-Sachs Disease Among Ashkenazi Jews
NEJM 323:6-12, Triggs-Raine,B.L.,et al, 1990
Neuroaxonal Dystrophy Due to Lysosomal a-N-Acetylgalactosaminidase Deficiency
NEJM 320:1735-1740, Schindler,D.,et al, 1989
Amaurotic Family Idiocy
Am J Dis Child 142:53-56, Abt,I.A., 1988
MR of Neuronal Migration Anomalies
AJR 150:179-187, Barkovich,A.J.,et al, 1988
CT in Ceroid Lipofuscinosis
Neurol 37:1025-1026, Dunn,D.W., 1987
The Cherry-Red Spot in Tay-Sachs & Other Storage Diseases
Ann Neurol 17:356-360, Kivlin,J.D.,et al, 1985
Neurodegenerative Disease of Infancy & Childhood
Ann Neurol 13:351-364, Dyken,P.,et al, 1983
Infantile Neuronal Degeneration Masquerading as Werdnig-Hoffmann Disease
Ann Neurol 8:317-324, Steiman,G.S.,et al, 1980
Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979
EEG Recognition of Aicardi's Syndrome
Arch Neurol 34:563, Fariello,R.G.,et al, 1977
Chronic Hexosaminidase A & B Deficiency
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Epidemiology of Motor-Neuron Diseases
NEJM 288:1047, Bobwick,A.R.,et al, 1973
Tay-Sachs Disease-The Use of Tears for the Detection of Heterozygotes
NEJM 289:1072, Carmody,P.,et al, 1973
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
Pan-Neurofascin Nodo-Paranodopathy Presenting as Fulminant Guillain-Barre Syndrome
Neurol 105:e213848, Cabral,A.,et al, 2025
Clinicopathologic conference, Malignant Mixed Germ-Cell Tumor and Anti-NMDA Receptor Encephalitis
NEJM 303:488-496, Case 22-2025, 2025
A 72-Year-Old Man with Progressive Pan-Dysautonomia
Neurol 105:e213994, Zelikovich,A.S.,et al, 2025
Risdiplam in Presymptomatic Spinal Muscular Atrophy
NEJM 393:671-682, Finkel,R.S.,et al, 2025
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Outcomes After Acute Plasma Exchange for Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease
Neurol 105:e213903, Thakolwilboon,S.,et al, 2025
A 73-Year-Old Man With Progressive Proximal Muscle Weakness and Binocular Diplopia
Neurol 105:e214173, Wold,K.J.,et al, 2025
Clinodactyly as a Key Finding in Distal Spinal Muscular Atrophy
Neurol 104: e213682, Hayakawa,I.,et al, 2025
Efficacy and Safety of Ofatumumab Treatment for Anti-NMDA Receptor Autoimmune Encephalitis (OFF-AE): A Prospective, Multicenter Cohort Study
Ann Neurol 98:80-92, Guo,K.,et al, 2025
Disease-Modifying, Neuroprotective Effect of N-Acetyl-L-Leucine in Adult and Pediatric Patients with Neimann-Pick Disease Type C
Neurol 105:e213589, Patterson,M.C., et al, 2025
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
A 56-Year-Old Woman with New-Onset Hoarsement and Dysphagia
Neurol 104:e213363, McAree,M. & Frontera, J.A., 2025
SGLT2 Inhibitor Use and Risk of Dementia and Parkinson Disease Among Patients With Type 2 Diabetes
Neurol 103:e209805, Kim,H.K.,et al, 2024
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
NEJM 391:1256-1258, Laugwitz,L.,et al, 2024
Posttransplant Anti-GABAA Receptor Antibody-Associated Autoimmune Encephalitis
Neurol 102:e209245, Togni,C.L.,et al, 2024