Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Risdiplam in Presymptomatic Spinal Muscular Atrophy
NEJM 393:671-682, Finkel,R.S.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Parkinsons Disease
NEJM 391:442-452, Tanner,C.M. & Ostrem,J.L., 2024
A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
Neurol 103:e2098-e2030, Jones,F.J.S. & Orthmann-Murphy,J., 2024
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
A Triad of Tremor, Ataxia, and Cognitive Impairment
Neurol 96:e1802-e1803, Au, L.W.C.,et al, 2021
Headache, Cognitive Decline, and a Curious Rim-Enhancing Lesion
JAMA Neurol 78:613-614, Beaman, C.B.,et al, 2021
Clinicopathologic Conference, Cerebral Amyloid Angiopatny-Related Inflammation
NEJM 385:358-368, Case 22-2021, 2021
A 65-Year-Old Woman with Tremor
Neurol 97:e1257-e1261, Ye, J.,et al, 2021
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
Clinicopathologic Conference, HIV Type 2 Infection & Cerebral Toxoplasmosis
NEJM 383:859-866, Case 27-2020, 2020
A 73-Year-Old Man with Recurrent Aphasia, Headaches, and Confusion
Neurol 95:e2595-e2599, Bose, G.,et al, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
Clinicopathologic conference, Frontotemporal Lobar Degeneration with tau-positive inclusions consistent with Picks disease
NEJM 383:2666-2675, Case 41-2020, 2020
Leg Weakness and Stiffness at the Emergency Room
Neurol 92:e622-e625, af Edholm, K.,et al, 2019
Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
Neurol 93:939-944, Torabi,T.,et al, 2019
Subacute Paresis in a 28-year-old man with HIV
Neurol 90:432-435, Harada, Y.,et al, 2018
A 52-year-old woman with a 3 weeks of progressive gait ataxia and dysarthria
Neurol 90:e985-e989, Ly, C.,et al, 2018
Progressive Gait Difficulty and Incontinence in a 40-year-old Man with HIV
Neurol 91:1065-1070, Silverman, A.,et al, 2018
Clinicopathologic Conference, Primary Progressive Aphasia, Semantic Variant, due to TAR DNA Binding Protein 43 associated Frontotemporal Lobar Degen
NEJM 376:158-167, Case 1-2017, 2017
Clinicopathologic Conference, Posterior Cortical Atrophy with Frontotemporal Lobe Dementia with Gene Mutation
JAMA Neurol 74:114-118, , 2017
Clinicopathologic Conference, Advanced AIDS Complicated by HSV-1 Encephalopathy. Basal-Cell Carcinoma. Kaposis Sarcoma.
NEJM 376:2580-2589, Case 20-2017, 2017
Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
A 46-year-old man with Persistent Hiccups, Cognitive Dysfunction, and Imbalance
Neurol 89:e193-e196, Lamb, C.J.,et al, 2017
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
NEJM 377:1723-1732,1786, Finkel, R.S.,et al, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017
A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016
A Case of Subacute Cognitive Decline in a 76-year-old Man
Neurol 87:e124-e128, MacLellan, A.,et al, 2016
SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
Eur J Hum Genet 24:1016-1021, Choquet,K.,et al, 2016
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015
A 56-year-old Man with Cognitive Impairment and Difficulty Tying his Necktie
Neurol 85:e116-e122, Baker, J.M.,et al, 2015
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Amyloid Beta-Related Angiitis - A Case Report and Comprehensive Review of Literature of 94 Cases
Semin Arthritis Rheum 44:86-92, Danve, A.,et al, 2014
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, HIV-Associated Neurocognitive Disorders (AIDS-Dementia Complex)
Adams & Victors Principles of Neurology, Chp 33, pg 759, Ropper, A.H.,et al, 2014
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Subacute Sclerosing Panencephalitis
Adams & Victors Principles of Neurology, Chp 33, pg 766, Ropper, A.H.,et al, 2014
Viral Infections of the Nervous System, Chronic Meningitis, and Prior Diseases, Progressive Multifocal Leukoencephalopathy
Adams & Victors Principles of Neurology, Chp 33, pg 767, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1116, Ropper, A.H.,et al, 2014
Criteria for the Diagnosis of Corticobasal Degeneration
Neurol 80:496-503, Armstrong, M.J.,et al, 2013
Subacute Sclerosing Panencephalitis
Postgrad Med J 78:63-70, Garg, R.K.,et al, 2002
Clinicopath Conf,Cerebral Amyloid Angiogpathy and Giant-Cell Inflammatory Reaction to Beta 4-Amyloid and Vasculitis, Case 10-2000
NEJM 342:957-965, , 2000