Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025
Cerebral Atrophy and Leukoencephalopathy in a Young Man Presenting with Encephalitic Episodes
JAMA Neurol 75:1563-1564, Xiao, F.,et al, 2018
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
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
A 55-Year-Old Man with Rapidly Progressive Weakness and Numbness
Neurol 106:e218063, Li,X.,et al, 2026
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
Acute and Progressive Cognitive Decline in a 38-Year-Old Man
Neurol 105: e213871, Wu,L.,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
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 60-Year-Old Woman with Rapidly Progressive Muscle Weakness and Ophthalmoparesis
Neurol 103:e209708, Wannarong,T.,et al, 2024
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Clinicopathologic Conference, Cerebral Amyloid Angiopatny-Related Inflammation
NEJM 385:358-368, Case 22-2021, 2021
A Middle-Aged Man with Progressive Gait Abnormalities
Neurol 97:e2423-e2428, Lin, J.,et al, 2021
Clinicopathologic Conference, Powassan Virus Encephalitis
NEJM 380:380-387, Case 3-2019, 2019
Clinicopathologic Conference, Amyotrophic Lateral Sclerosis
NEJM 380:1566-1574, Case 12-2019, 2019
Clinical Reasoning: A 66-year-old Woman with Seizures and Progressive Right-Sided Weakness
Neurol 90:e435-e439, St-Pierre, B.D.,et al, 2018
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Subacute Paresis in a 28-year-old man with HIV
Neurol 90:432-435, Harada, Y.,et al, 2018
Neuromyelitis Optica Spectrum Disorder (NMOSD) in a Male with Hiccups and Quadriparesis
IJCMR 5:K28-K30, Tuteja,H.S.,et al, 2018
Clinical Manifestations of the anti-IgLON5 Disease
Neurol 88:1736-1743,1688, Gaig, C.,et al, 2017
Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017
A 55-year-old Man with Rapidly Progressive Dementia and Parkinsonism
Neurol 89:e182-e187, Tabuas-Pereira, M.,et al, 2017
A Case of Statin-Associated Autoimmune Myopathy
Clin Med Insights: Case Reports 10:1-4, Sweidan, A.J.,et al, 2017
A 64-year-old Man with Progressive Paraspinal Muscle Weakness
Neurol 86:e4-e9, Schneider, R.,et al, 2016
A Young Man with Progressive Language Difficulty and Early-Onset Dementia
JAMA Neurol 73:595-599, Botha, H.,et al, 2016
A 30-year-old Man with Progressive Weakness and Atrophy
Neurol 87:e227-e230, Quinn, C.,et al, 2016
Rapidly Progressive Quadriplegia and Encephalopathy
JAMA Neurol 73:1363-1366, Wynn, D.,et al, 2016
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Clinicopathologic Conference, Chronic Meningoencephalitis Consistent with Rasmussens Encephalitis
NEJM 371:1737-1746, Case 34-2014, 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
Progressive Gait Deterioration in Adolescents with Dravet Syndrome
Arch Neurol 69:873-878, Rodda, J.M.,et al, 2012
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
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
A 67-Year-Old Man with Exercise Intolerance nd Progressive Weakness
Neurol 106:e214830, Gosset,A.,et al, 2026
A 32-Year-Old Woman with Progressive Vision Loss and Confusion
Neurol 106:e214988, Kumar,A.B.,et al, 2026
A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025
A 19-Year-Old Woman with Progressive Weakness and Numbness in Her Arms and Legs
Neurol 104:e213495, Alsabah,A-A.,et al, 2025
A 56-Year-Old Woman with New-Onset Hoarsement and Dysphagia
Neurol 104:e213363, McAree,M. & Frontera, J.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 Woman with Subacute Progression of Distal Upper Extremity Weakness
Neurol 105:e214212, Zhao,A.J.,et al, 2025
A 58-Year-Old Man With Resting tremor, Bradykinesia, and Distal Numbness
Neurol 105:e214183, Costa,R., et al, 2025
Tiger Man Sign in Sarcoid Myopathy
Neurol 105:e214323, Sun,Q.,et al, 2025
A 50-Year-Old Male Patient With Acute Severe Sensory Deafferentation and Bilateral Ptosis with Rapid Recovery
Neurol 106:e214435, Pseruk,F.,et al, 2025
A 62-Year-Old Man with Progressive Limb Weakness, Involuntary Movements, and HyperCKemia
JAMA Neurol 82L:1286-1287, Liu,Y.,et al, 2025
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
Behcets Syndrome
NEJM 390:640-651, Saadoun,D.,et al, 2024
Clinicopatholigic Conference, Rheumatoid Arthritis with Vasculitis Causing A Confluent Mononeuritis Multiplex
NEJM 390:1312-1322, Case 11-2024, 2024