A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
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A Surgical Approach To The Treatment Of Fetal Hydrocephalus
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Placement Of Ventriculo-Amniotic Shunt For Hydrocephalus In A Fetus
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A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
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A Neonate with Micrognathia and Hypotonia
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Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
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Aicardi-Gouti�res Syndrome
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Extension of the Clinical Spectrum of Danon Disease
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Familial Dopa-Responsive Cervical Dystonia
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Dopamine-Responsive Dystonia
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Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
NEJM 352:686-691, de Jong,M.D., et al, 2005
Jaw Drop in Kennedy's Disease
Neurol 59:1471-1472, Sumner,C.J. &Fischbeck,K.H., 2002
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
Neurol 50:853-855, Nygaard,T.G.&Wooten,G.F., 1998
X-Linked Vacuolated Myopathy:Membrane Attack Complex Depos on Muscle Fiber Membr with Calcium Accumul on Sarcolemma
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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
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Intelligence and the X Chromosome
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X-Linked Malformation of Neuronal Migration
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A Simplified Six-Item Checklist for Screening for Fragile X Syndrome in the Pediatric Population
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Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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The Phenotype of the X-Linked Dystonia-Parkinsonism Syndrome, An Assessment of 42 Cases in the Philippines
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Dopa-Responsive Dystonia:The Spectrum of Clinical Manifestations in a Large North American Family
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X-Linked Spinal Muscular Atrophy (Kennedy's Syndrome) A Kindred with Hypobetalipoproteinemia
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989
Familial X-linked Myalgia and Cramps:A Nonprogressive Myopathy Associated with a Deletion in the Dystrophin Gene
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Computed Tomography and Magnetic Resonance Imaging in Adult-Onset Leukodystrophy
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Familial Cavernous Angiomas
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