Phosphorylase Deficiency
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McArdle's Disease in the 1980s
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Increased Prevalence of Nitrous Oxide-Induced Subacute Combined Degeneration of the Spinal Cord: Clinical and Imaging Findings
AJNR 47:513-520, Bruen,R.,et al, 2026
Vitamin B12 Deficiency:NICE Guideline Summary
BMJ 385:q1019, q1262, Sands,T.,et al, 2024
Pernicious Anaemia
BMJ 369:m1319, Mohamed, M.,et al, 2020
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
A 38-Year-Old Man with Respiratory Failure and Progressive Leg Weakness
Neurol 86:e190-e194, McIntosh, P. & Karam, C., 2016
Clinopathologic Conference, Celiac Disease
NEJM 374:1875-1883, Case 14-2016, 2016
Challenges in the Identification of Cobalamin-Deficiency Polyneuropathy
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Practice Parameter: Diagnosis of Dementia (an Evidence-Based Review)
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Presenting Features and Value of Diagnostic Procedures in Leptomeningeal Metastases
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Diagnosis of McArdle's Disease by Molecular Genetic Analysis of Blood
Neurol 47:579-580, El-Schahawi,M.,et al, 1996
Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Neurologic Aspects of Cobalamin Deficiency
Medicine 70:229-245, Healton,E.B.,et al, 1991
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Acid Maltase Deficiency
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Restless Legs Syndrome, A Review
JAMA 335:703-714, Winkelmen,J.W. & Wipper, B., 2026
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
Polymyalgia Rheumatica
NEJM 394:1097-1109, Dejaco,C.,et al, 2026
Clinical Presentation, Investigation Findings, and Outcomes of IgG4-Related Pachymeningitis,A Systematic Review
JAMA Neurol 82:193-199, Terrim,S.,et al, 2025
Unveiling the Clinical and Imaging Signatures of Intravascular Lymphoma of the Central Nervous System:A Multicentric Cohort Study
Ann Neurol 97:435-448, Berthet,E.,et al, 2025
Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies
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Niemann-Pick Disease Type C
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Primary Central Nervous System Lymphoma:Clinical Features, Diagnosis, and Extent of Disease Evaluation
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Clinical Presentation, Management, and Outcome in Neurolymphomatosis, A Systematic Review
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Polymyalgia Rheumatica
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Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Sturge-Weber Syndrome
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Autoimmune Nodopathies, An Emerging Dignostic Category
Curr Opin Neurol 35:579-585, Martin-Agullar, L.,et al, 2022
Paraneoplastic Myeloneuropathies
Neurol 96:e632-e639, Shah, S.,et al, 2021
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
HIV-Associated CD8 Encephalitis: A UK Case Series and Review of Histopathologically Confirmed Cases
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Duchenne Muscular Dystrophy
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Polymyalgia Rheumatica and Giant Cell Arteritis
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"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
AJNR 40:199-203, Pascual, B.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Imaging Features (CT, MRI, MRS, PET/CT) of Primary Central Nervous System Lymphoma in Immunocompetent Patients
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Neurodegeneration with Brain Iron Accumulation
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Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Antibody-Mediated Encephalitis
NEJM 378:840-851, Dalmau, J.,et al, 2018
Diagnosis and Management of the Antiphospholipid Syndrome
NEJM 378:2010-2021, Garcia, D. & Erkan, D., 2018
Spontaneous Subarachnoid Haemorrhage
Lancet 389:655-666, Macdonald, R.L. & Schweizer, T.A., 2017
Primary Angiitis of the Central Nervous System
Stroke 48:1248-1255, Boulouis, G.,et al, 2017
Overview of IgG4-related Disease
UptoDate, July, Moutsopoulos,H.,et al, 2017
Huntington Disease: Clinical Features and Diagnosis
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Myasthenia Gravis
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