Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
An Unusual Case of Acute Psychosis and Tetraparesis in a Young Zambian Man
Neurol 97:1002-1005, Zimba, S.,et al, 2021
Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,et al, 2018
Progressive Weakness and Memory Impairment in a Middle-aged Man
JAMA 320:197-198, DeFilippis, E.M.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
A 15-month-old boy with Progressive Lethargy and Spasticity
Neurol 89:e135-e139, Zhang, R.,et al, 2017
Clinicopathologic Conference, Primitive Neuroectodermal Tumor of CNS, with Involvement of Thalamus, Medial Cerebral Cortex, Brainstem, Cerebellum and Subarachnoid Space
NEJM 372:1550-1562, Case 12-2015, 2015
A 73-year-old Man with Diplopia and Ataxia
Neurol 85:e96-e100, Gupta, H.V.,et al, 2015
Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 972, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Hereditary Spastic Paraplagia
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
Clinicopathologic Conference, Paraneoplastic Stiff Person Syndrome with Limbic Encephalitis with Anti-Amphiphysin Antibodies with Metastatic Carcinoma of Breast
NEJM 367:851-861, Case 27-2012, 2012
Clinicopath Conf, Multiple-System Atrophy
NEJM 351:912-921, Case 27-2004, 2004
Clinicopath Conf,Pulmonary Mycobacterial Infection and Transverse Myelitis
NEJM 345:1263-1269, Case 33-2001, 2001
Serotonin Sydrome
Medicine 79:201-209, Mason,P.J. et al, 2000
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
Neurol 37:446-450, Larsen,R.,et al, 1987
Acute Bulbar Dysfunction & Hyperthyroidism
Am J Med 56:464, Kammer,G.M.,et al, 1974