Clinicopath Conf
Tangier Disease, Case 16-1996, NEJM 334:1389-1394996., , 1996
Tangier Disease in a Black Patient:An Unusual Clinical Presentation
Am J Med 89:105-108, Lo,W.D.,et al, 1990
Ocular Complications of Tangier Disease
Am J Med 83:991-994, Pressley,T.A.,et al, 1987
Tangier Disease (Hypo-a-Lipoproteinemia)
Textbook of Child Neurology, 3rd Ed. , Phila, Lea & Febiger, Ch 1, p 86, Menkes,J.H., 1985
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
Neurol 45:1405-1408, Heckmann,J.M.,et al, 1995
The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Erythromelalgia:Review of Clinical Characteristics and Pathophysiology
Am J Med 91:416-422, Jurzrock,R.&Cohen,P.R., 1991
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985
Two Cases of Van Buchem's Disease
JNNP 45:913-918, Dixon,J.M.,et al, 1982
Peripheral Neuropathy, A Review
JAMA 335:255-266, Mauermann,M.L. & Staff,N.P., 2026
Niemann-Pick Type C Disease
www.UpToDate.com, Nov, Schiffmann, R., 2026
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
A 62-Year-Old Woman with Progressive Spasticity, Weakness,and Gait Instability
Neurol 104:e210290, Voloshyna-Farber, E.Y.,et al, 2025
A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
Neurol 104:e213593, Pence, K.L. &Clark, R.A., 2025
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
NEJM 392:2438-2446, 2477, Ma,X.,et al, 2025
A 63-Year-Old Female Patient Presenting with Orthostatic Hypotension and Ataxia
Neurol 105:e213993, Shen,F.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
A 51-Year-Old Woman with Abnormal Corups Callosum Signal
JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Safety and Efficacy of Staged, Bilateral Focused Ultrasound Thalamotomy in Essential Tremor, An Open-Label Clinical Trial
JAMA Neurol 81:939-946, Kaplitt,M.G.,et al, 2024
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
Neurol 101:46-49, deGusmao,C.M.,et al, 2023
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
The Phenotypic Continuum of ATP1A3-Related Disorders
Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022
Congenital Cytomegalovirus Infection
BMJ 373:m1212, Pesch, M.H.,et al, 2021
Cervical Spondylotic Myelopathy Secondary to Ochronotic Vertebral Arthropathy
Neurol 96:627-628, Pinto, W.,et al, 2021
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
A Middle-Aged Man with Progressive Gait Abnormalities
Neurol 97:e2423-e2428, Lin, J.,et al, 2021
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
A 53-year-old Woman with Lower Extremity Paresthesias
Neurol 94:1105-1108, Dehbashi, S.,et al, 2020
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution
AJNR 41:167-173, Bhatia,K.D.,et al, 2020
Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Three-year Follow-up of Prospective Trial of Focused Ultrasound Thalamotomy for Essential Tremor
Neurol 93:e2284-e2293, Halpern, C.H.,et al, 2019
Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019
Cholesterol Lowering and Prevention of Stroke
Stroke 50:537-541, Hackam, D.G. & Hegele, R.A., 2019
"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
AJNR 40:199-203, Pascual, B.,et al, 2019
A Teenager with Persistent Headache
Neurol 92:e1526-e1531, Hu, Y.,et al, 2019