Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 988, Ropper, A.H.,et al, 2014
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
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
Adrenoleukodystrophy:Clinical & Biochemical Manifestations in Carriers
Neurol 34:798-801, O'Neill,B.P.,et al, 1984
Adrenoleukodystrophy:Survey of 303 Cases:Biochemistry, Diagnosis, & Therapy
Ann Neurol 16:628-641, Moser,H.W.,et al, 1984
Lentiviral Gene Therapy for Cerebral adrenoleukodystrophy
NEJM 391:1302-1312,1358, Eichler,F.,et al, 2024
Bilateral Temporal Pole Involvement in Adult-Onset X-Linked Adrenoleukodystrophy
JAMA Neurol 78:367-368, Liu, M.,et al, 2021
MRI in X-Linked Adrenoleukodystrophy
Neurol 84:211, Siddiqui, S.,et al, 2015
Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy
Neurol 77:62-66, Schade van Westrum, S.M.,et al, 2011
Patient with Unilateral White Matter Involvement Does Not Have Krabbe Disease
Arch Neurol 68:1345, Van der Knaap, M.S. and Wenger, D.A., 2011
Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
The Addisons Disease Dilemma--Autoimmune or ALD?
Lancet 371:1970, Kong,M.-F.,et al, 2008
Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006
Assessment of Adrenoleukodystrophy Lesions by High Field MRS in Non-Sedated Pediatric Patients
Neurol 64:434-441, Oz, G., et al, 2005
Follow-Up of 89 Asymptomatic Patients with Adrenoleukodystrophy Treated with Lorenzos Oil
Arch Neurol 62:1073-1080,1045, Moser,H.W.,et al, 2005
Initial Diagnoses Given to Persons with the Fragile X Associated Tremor/Ataxia Syndrome (FXTAS)
Neurol 65:299-301, Hall,D.A.,et al, 2005
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
The Neurologist 10:201-215, Kalman,B. &Leist,T.P., 2004
von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003
Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
AJNR 23:1757-1766, Brunberg,J.A.,et al, 2002
Proton MR Spectroscopic Imaging Predicts Lesion Progression on MRI in X-Linked Adrenoleukodystrophy
Neurol 58:901-907, Eichler,F.S.,et al, 2002
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
Long-term Effect of Bone-marrow Transplantation for Childhood-onset Cerebral X-linked Adrenoleukodystrophy
Lancet 356:713-718, Shapiro,E. et al, 2000
Signs and Symptoms of Duchenne Muscular Dystrophny and Becker Muscular Dystrophy Among Carriers in the Netherlands: A Cohort Study
Lancet 353:2116-2119, Hoogerwaard,E.M.,et al, 1999
Lovastatin for X-Linked Adrenoleukodystrophy
NEJM 339:702-703, Singh,I.,et al, 1998
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
von Hippel-Lindau Disease
Medicine 76:381-391, Maher,E.R.&Kaelin,W.G., 1997
Development of Cardiomyopathy in Female Carriers of Duchenne and Becker Muscular Dystrophies
JAMA 275:1335-1338, Politano,L.,et al, 1996
MR Findings in Adult-Onset Adrenoleukodystrophy
AJNR 16:1227-1237, Kumar,A.J.,et al, 1995
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
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993
Presenile-Onset Cerebral Adrenoleukodystrophy Presenting as Balint's Syndrome and Dementia
Neurol 43:1249-1251, Uyama,E.,et al, 1993
X-Linked Adrenoleukodystrophy:Adult Cerebral Variant
Neurol 43:1518-1522, Farrell,D.F.,et al, 1993
Visual Evoked Potential in Adrenoleukodystrophy:Glycerol Trioleate and Lorenzo Oil
Ann Neurol 34:169-174, 1211993., Kaplan,P.W.,et al, 1993
A Two-Year Trial of Oleic and Erucic Acids ("Lorenzo's Oil") as Treatment for Adrenomyeloneuropathy
NEJM 329:745-752, 8011993., Aubourg,P.,et al, 1993
Cardiomyopathy May Be the Only Clinical Manifestation in Female Carriers of Duchenne Muscular Dystrophy
Neurol 43:2342-2345, Mirabella,M.,et al, 1993
Sudden Death of a Carrier of X-Linked Emery-Dreifuss Muscular Dystrophy
Ann Int Med 119:900-905, Fishbein,M.C.,et al, 1993
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Dystrophinopathy in Isolated Cases of Myopathy in Females
Neurol 42:967-975, Hoffman,E.P.,et al, 1992
Detection of Duchenne and Becker MD Carriers by Quant Multiplex Polymerase Chain Reaction
Neurol 42:1783-1790, Ioannou,P.,et al, 1992
Screening for von Hippel-Lindau Disease by DNA Polymorphism Analysis
JAMA 267:1226-1231, Glenn,G.M.,et al, 1992
Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
Mosaic Express of Dystrophin in Carriers of Becker's Muscular Dyst & X-Linked Synd of Myalgia & Cramps
NEJM 327:1100, Minetti,C.&Bonilla,E., 1992
VonHippel-Lindau Disease
Editorial, Lancet 337:10651991., , 1991