Medical Complications in Long-Term Survivors with X-Linked Myotubular Myopathy
J Pediatr 134:206-214, Herman,G.E.,et al,, 1999
Signs and Symptoms of Duchenne Muscular Dystrophny and Becker Muscular Dystrophy Among Carriers in the Netherlands: A Cohort Study
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Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
Neurol 50:853-855, Nygaard,T.G.&Wooten,G.F., 1998
Lovastatin for X-Linked Adrenoleukodystrophy
NEJM 339:702-703, Singh,I.,et al, 1998
Long-Term Follow-Up of Levodopa Responsiveness in Generalized Dystonia
Arch Neurol 55:1320-1323, Dewey,R.B.,et al, 1998
Persistent High MR Signal of the Posterior Pituitary Gland in Central Diabetes Insipidus
AJNR 18:1749-1752, Maghnie,M.,et al, 1997
Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
Neurol 49:1042-1047, Dobyns,W.B.,et al, 1997
X-Linked Vacuolated Myopathy:Membrane Attack Complex Depos on Muscle Fiber Membr with Calcium Accumul on Sarcolemma
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
Neurol 49:568-572, Parboosingh,J.S.,et al, 1997
The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
Ann Neurol 42:360-364, Claes,S.,et al, 1997
Cognitive Dysfunction as the Major Presenting Feature of Becker's Muscular Dystrophy
Neurol 46:461-465, North,K.N.,et al, 1996
Intelligence and the X Chromosome
Lancet 347:1814-1815, Turner,G., 1996
X-Linked Malformation of Neuronal Migration
Neurol 47:331-339, Dobyns,W.B.,et al, 1996
A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
J Pediatr 129:611-614, Giangreco,C.A.,et al, 1996
Distal WEakness in Dystrophin-Deficient Muscular Dystrophy
Muscle & Nerve 19:1608-1610996., Felice,K.J., 1996
Development of Cardiomyopathy in Female Carriers of Duchenne and Becker Muscular Dystrophies
JAMA 275:1335-1338, Politano,L.,et al, 1996
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Diagnosing Motor Neurone Disease
BMJ 312:650-651, Chancellor,A.M., 1996
MR Findings in Adult-Onset Adrenoleukodystrophy
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Evaluation of the Cardiomyopathy in Becker Muscular Dystrophy
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Dopamine, Dystonia, and the Deficient Co-Factor
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Diagnostic Yield of the Neurologic Assessment of the Developmentally Delayed Child
J Pediatr 127:193-199, Majnemer,A.&Shevell,M.I., 1995
Rapid Antibody Test for Fragile X Syndrome
Lancet 345:1147-1148, Willemsen,R.,et al, 1995
Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
Lancet 345:161-162, Jouet,M.&Kenwrick,S., 1995
Becker Muscular Dystrophy with Onset after 60 Years
Neurol 44:2388-2390, Heald,A.,et al, 1994
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Rapid Direct Diagnosis of Deletions Carriers of Duchenne and Becker Muscular Dystrophies
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Dopa-Responsive Dystonia:Pathological and Biochemical Observations in a Case
Ann Neurol 35:396-402, 3811994., Rajput,A.H.,et al, 1994
Do Young Boys with Fragile X Syndrome have Macroorchidism
Pediatrics 93:992-995, Lachiewicz,A.M.&Dawson,D.V., 1994
Neuroanatomy of Fragile X Syndrome:The Temporal Lobe
Neurol 44:1317-1324, Reiss,A.L.,et al, 1994
MR of Intracranial Langerhans Cell Histiocytosis
J Comput Assist Tomogr 18:295-297, George,J.C.,et al, 1994
Advances in Molecular Analysis of Fragile X Syndrome
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Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993
Comparison of Striatal 18F-dopa Uptake in Adult-Onset Dystonia-Parkinsonism, Parkinson's & Dopa-Responsive Dystonia
Neurol 43:1563-1568, Turjanski,N.,et al, 1993
Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 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
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Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
Diagnosis of Duchenne & Becker Muscular Dystrophies by Polymerase Chain Reaction
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Upper Gastrointestinal Tract Motility in Children with Progressive Muscular Dystrophy
J Pediatr 121:720-724, Staiano,A.,et al, 1992
Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
ELISA Quantitation of Dystrophin for the Diagnosis of Duchenne and Becker Muscular Dystrophies
Neurol 42:570-576, Byers,T.J.,et al, 1992
More Bad Luck for the X Chromosome:Thalassaemia/Mental Retardation
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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation
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