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
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
A 60-Year-Old Man with Weakness and Gait Dysfunction
JAMA Neurol 82:305-306, Jones,F.J.S.,et al, 2025
Risdiplam in Presymptomatic Spinal Muscular Atrophy
NEJM 393:671-682, Finkel,R.S.,et al, 2025
Multidisciplinary End-of-Life Care for a Patient with Amyotrophic Lateral Sclerosis Requesting Euthanasia
Lancet 402:484, Kruithof,W.J.,et al, 2023
Clinicopathologic Conference, Anti-IgLON5 IgG-Associated Neurologic Disorder
NEJM 386:173-180, Case 1-2022, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Clinicopathologic Conference, Amyotrophic Lateral Sclerosis
NEJM 380:1566-1574, Case 12-2019, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
A 42-year-old man with unilateral leg weakness
Neurol 90:e1085-e1090, Schneider, R.,et al, 2018
Amyotrophic Lateral Sclerosis
NEJM 377:162-172, Brown, R.H.,et al, 2017
Mills Syndrome
Neurol 87:e54, Porto, F.H.G.,et al, 2016
Owls Eye Sign
Neurol 84:1500, Kumar, S.,et al, 2015
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Motor Neurone Disease
BMJ 349:g4052, Nageshwaran, S.,et al, 2014
Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
Adams & Victors Principles of Neurology, Chp 39, pg 1109, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Progressive Bulbar Palsy
Adams & Victors Principles of Neurology, Chp 39, pg 1111, Ropper, A.H.,et al, 2014
Slowly Expanding Lesions Differentiate Pediatric Multiple Sclerosis from Myelin Oligodendrocyte Glycoprotein Antibody Disease
Ann Neurol 96:1086-1091, Fadda,G.,et al, 2024
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
Progressive Rubella Panencephalitis
NEJM 292:990-993,1023, Townsend,J.,et al, 1975
Progressive Quadriparesis and Falls in a 66-Year-Old Man With Longstanding Human Immunodeficiency Virus
Neurol 106:e214621, Ong,B.A. & Carlson,A.K., 2026
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Association of Changes in Activity Patterns with Brain Atrophy and Disability Progression in People with Multiple Sclerosis
Neurol 106:e214678, e214742, Fitzgerald,K.C.,et al, 2026
A 32-Year-Old Woman with Progressive Vision Loss and Confusion
Neurol 106:e214988, Kumar,A.B.,et al, 2026
Juvenile-Onset Dopa-Responsive Dystonia-Until It Isnt
Neurol 104:e213436, Paredes,N.C.,et al, 2025
Progress Toward Mitigating Disability Progression in Multiple Sclerosis
NEJM 392:1966-1968, Calabresi,P.A., 2025
A 60-Year-Old Man with Rapidly Progressive Left Hemibody Weakness and Vision Loss
Neurol 105: e213869, Rock,M.,et al, 2025
A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
Neurol 105:e214297, Chen,Z., et al, 2025
A 5-Year-Old Boy with Subacute and Refractory Myoclonus
Neurol 106:e214457, Park,P.S.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
A 32-Year-Old Man with Painless Bilateral Shoulder Girdle Weakness and Atrophy
Neurol 103:e209915, Gutti,N.B.,et al, 2024
An 82-Year-Old Woman with Subacute Ophthalmoparesis and Ataxia
Neurol 101:e570-e575, Rodrigo-Gisbert,M.,et al, 2023
A 17-Year-Old Girl with Progressive Cognitive Impairment
Neurol 101:e1466-e1472, Zhao,B.,et al, 2023
Manganese Accumulation in the Brain
NEJM 389:1320, Sherman,S.V., 2023
A 56-Year-Old Man with Unusual Presentation of Subacute Encephalopathy and Seizure
Neurol 98:e95-e102, Wang, T.,et al, 2022
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
A 48-Year-Old Woman with 6 Months of Vivid Visual Hallucinations
Neurol 99:166-171, Kizza, J.,et al, 2022
Clinicopathologic Conference, Granulomatosis with Polyangiitis
NEJM 387:1022-1032, Case 28-2022, 2022
A 6-Year-Old Boy with Muscle Twitching
Neurol 96:e301-e304, Lewis, H.S.,et al, 2021
A 71-Year-Old Man with Horizontal Gaze Palsy, Anarthria, and Quadriparesis
Neurol 96:1146-1150, Cheema, I.,et al, 2021
Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Focal Cerebral Arteriopathy of Childhood, Clinical and Imaging Correlates
Stroke 52:2258-2265, Oesch,G.,et al, 2021
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
Progressive Ataxia and Palatal Tremor
Neurol 94:e1445-e1447, Pradeep, S.,et al, 2020
Clinical Characteristics, Risk Factors, and Outcomes of POEMS Syndrome
Neurol 95:e268-e279, Keddie, S.,et al, 2020
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020