Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
Neurol 90:e1827-e1831, Xiao, F.,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
Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease
Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014
Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 972, Ropper, A.H.,et al, 2014
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Progressive Weakness and Memory Impairment in a Middle-aged Man
JAMA 320:197-198, DeFilippis, E.M.,et al, 2018
Clinicopathologic Conference, Copper Deficiency Myelopathy
NEJM 377:1977-1984, Case 35-2017, 2017
A Man with Paraesthesia, Headache, and Vertigo
BMJ 359:j5165, ODay, J. & Bhatt, P., 2017
Clinicopath Conf, Intravascular Large-B-Cell Lympoma
NEJM 362:1129-1138, Case 9-2010, 2010
Clinicopath Conf, Primary Lymphoma of CNS
NEJM 346:1009-1015, Case 10-2002, 2002
Combined System Disease after Nitrous Oxide Anesthesia:A Case Report
Neurol 45:1224-1225, McMorrow,A.M.,et al, 1995
Neuromuscular Involvement in Mild, Asymptomatic Primary Hyperparathyroidism
Am J Med 87:553-557, Turken,S.A., 1989
Demyelinating Diseases
In Rowlands Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8th Ed, p. 749, Sibley,W.A.,et al, 1989