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
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
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
A Young Health Woman with Difficult-to-Wean Acute Ventilator Dependence
Neurol 94:e1340-e1343, Chandrashekhar, S.,et al, 2020
A 40-Year-Old Woman Presenting with Distal Leg Weakness
Neurol 92:242-247, Fam, D.,et al, 2019
A 35-year-old Woman with Hyperstartling Stiffness, and Accidental Falls
Neurol 88:e38-e41, Russo, S.P.,et al, 2017
CNS Posttransplant Lymphoproliferative Disorder
Neurol 89:e32-e37, Kesari, N.K.,et al, 2017
A Man with Paraesthesia, Headache, and Vertigo
BMJ 359:j5165, ODay, J. & Bhatt, P., 2017
Clinicopath Conf, Neurosarcoidosis
NEJM 360:802-809, Case 6-2009, 2009
Magnetic Resonance Imaging in Posterior Reversible Encephalopathy Syndrome: Report of Three Cases and Review of Literature
Arch Gynecol Obstet 271:79-85, Finocchi,V.,et al, 2005
SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
Neruol 56:299-303,287, O'Hearn,E.,et al, 2001
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992
Chiari I Malformations:Clinical and Radiologic Reappraisal
Radiology 183:347-353, Elster,A.D.&Chen,M.Y.M., 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Atlanto-Axial Subluxation in Rheumatoid Arthritis
Bone & Joint Surg 55B:458973., Rana,N.S., 1973