Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Chediak-Higashi Syndrome: Pathognomonic Feature
Lancet 382:1514, Antunes, H.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Update on Blepharospasm: Report from the BEBRF International Workshop
Neurol 71:1275-1282, Hallett,M.,et al, 2008
Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
Stroke 25:508-510, Papa,M.L.,et al, 1994
Familial Intracranial Haemorrhage Due to Factor V Deficiency
JNNP 55:227-228, Wadia,R.S.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
More Bad Luck for the X Chromosome:Thalassaemia/Mental Retardation
Lancet 338:1562-1563, , 1991
Neurofibromatosis Type I in Children
J Pediatr 116:845-853, Listernick,R.&Charrow,J., 1990
Hematologic Disorders and Ischemic Stroke
Stroke 21:1111-1121, Hart,R.G.&Kanter,M.C., 1990
Clinicopath Conf
Mastoiditis with Right Transverse-Sinus and Sigmoid-Sinus Thrombosis, Case Record 20-1988, NEJM 318:, 321328,1988., 1988
Mendelian Etiologies of Stroke
Ann Neurol 22:175-192, Natowicz,M.&Kelley,R.I., 1987
Chediak-Higashi Syndrome
Arch Neurol 41:1001-1002, Pettit,R.E.,et al, 1984
Von Recklinghausen Neurofibromatosis
NEJM 305:1617-1627, Riccardi,V.M., 1981
Studies in Aging of the Brain:IV. Familial Alzheimer Dis. :Relat. to Transmiss. Demetia, Aneuploidy, & Microtubular Defects
Neurol 29:1402, Book,R.H.,et al, 1979
Ataxia Telangiectasia
Arch Neurol 35:553-554, Teplitz,R.L., 1978
Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
NEJM 289:286, Hecht,F.,et al, 1973