Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Angiokeratoma Corporis Diffusum
Quart J Med 31:177, 1962 April., Wise,D.,et al, 1962
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Alzheimers Disease
Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
Wilson Disease
NIDDK Oct2018, , 2018
Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
Pract Neurol 18:201-210, Khadilkar,S.V.,et al, 2018
A 10-year-old boy with Bilateral Vision Loss
Neurol 88:e221-e224, Bulwa, Z.,et al, 2017
Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016
A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016
Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Clinicopath Conf
Mastoiditis with Right Transverse-Sinus and Sigmoid-Sinus Thrombosis, Case Record 20-1988, NEJM 318:, 321328,1988., 1988
Sclerosteosis:Neurogenetic & Pathophysiologic Analysis of an American Kinship
Neurol 33:267-277, Stein,S.A.,et al, 1983
Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983
Two Cases of Van Buchem's Disease
JNNP 45:913-918, Dixon,J.M.,et al, 1982