Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Initial Diagnoses Given to Persons with the Fragile X Associated Tremor/Ataxia Syndrome (FXTAS)
Neurol 65:299-301, Hall,D.A.,et al, 2005
von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003
New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002
The DYT1 Phenotype and Guidelines for Diagnostic Testing
Neurol 54:1746-1753,1718, Bressman,S.B.,et al, 2000
X-Linked Emery-Dreifuss Muscular Dystrophy Can Be Diagnosed from Skin Biopsy or Blood Sample
Ann Neurol 42:249-253, Mora,M.,et al, 1997
Rapid Antibody Test for Fragile X Syndrome
Lancet 345:1147-1148, Willemsen,R.,et al, 1995
Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994
Rapid Direct Diagnosis of Deletions Carriers of Duchenne and Becker Muscular Dystrophies
Lancet 344:302-303, Fassati,A.,et al, 1994
The Frequency of Patients with Dystrophic Abnormalities in a Limb-Girdle Patient Population
Neurol 41:1491-1496, Arikawa,E.,et al, 1991
Direct Diagnosis of Carriers of Duchenne & Becker Muscular Dystrophy by Amplification of Lymphocyte RNA
Roberts. R. G. , et al, Lancet 336:1523-1526., , 1990
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988