The Epilepsy of Trisomy 9p
Neurol 47:821-824, Stern,J.M., 1996
Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
AJNR 35:119-123, Lin, D.D.M.,et al, 2014
Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
NEJM 368:1992-2003, Margolin, D.,et al, 2013
The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
Neurol 45:311-317, Barth,P.G.,et al, 1995
Cranial MRI in Ataxia-Telangiectasia
Neuroradiology 37:77-82, Sardanelli,F.,et al, 1995
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Syndrome of Cerebellar Ataxia and Hypogonadotrophic Hypogonadism:Evidence for Pituitary Gonadotrophin Deficiency
JNNP 52:407-409, Fox,A.C.K.,et al, 1989