Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017
A 52-year-old Man with Diplopia and Ataxia
Neurol 87:e140-e143, Bradshaw, M.J.,et al, 2016
Hydrocephalus in Children
Lancet 387:788-799, Kahle, K.T.,et al, 2016
A Young Woman with Blurred Vision and Distal Paresthesias
JAMA Neurol 72:1519-1523, Kung, N.H.,et al, 2015
MRI in X-Linked Adrenoleukodystrophy
Neurol 84:211, Siddiqui, S.,et al, 2015
Corpus Callosum Splenium Hyperintensity in Fragile X-Associated Tremor Ataxia Syndrome
Neurol 84:e194, Renard, D.,et al, 2015
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Treatment of Langerhans Cell Histiocytosis
UptoDate Oct. 2014, McClain, K.L., 2014
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014
Newborn Screening for Fragile X Syndrome
JAMA Neurol 71:355-359, Tassone, F., 2014
Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
Adams & Victors Principles of Neurology, Chp 37, pg 988, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Dopa-Responsive Dystonia Revisited
Arch Neurol 69:1558-1562, Tadic, V.,et al, 2012
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
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009
Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008
Extension of the Clinical Spectrum of Danon Disease
Neurol 70:1358-1359, van der Kooi,A.J.,et al, 2008
The Addisons Disease Dilemma--Autoimmune or ALD?
Lancet 371:1970, Kong,M.-F.,et al, 2008
Clinicopath Conf., Endheim-Chester Disease
NEJM 359:736-747, Case 25-2008, 2008
Cardiac Involvement in Patients With Limb-Girdle Muscular Dystrophy Type 2 and Becker Muscular Dystrophy
Arch Neurol 65:1196-1201, Sveen,M.-L.,et al., 2008
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006
Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006
Dopa-responsive Dystonic Camptocormia
Neurol 66:1779, Van Gerpen,J.A., 2006
Familial Dopa-Responsive Cervical Dystonia
Neurol 66:599-601, Schneider,S.A.,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
Initial Diagnoses Given to Persons with the Fragile X Associated Tremor/Ataxia Syndrome (FXTAS)
Neurol 65:299-301, Hall,D.A.,et al, 2005
Oligophrenin 1 Mutations Frequently Cause X-Linked Mental Retardation with Cerebellar Hypoplasia
Neurol 65:1364-1369,1346, Zanni,G.,et al, 2005
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,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
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
The CNS Phenotype of X-Linked Charcot-Marie-Tooth Disease
Neurol 61:1475-1478, Taylor,R.A.,et al, 2003
Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003
Kennedy Disease
Arch Neurol 60:893-894, Paparounas,K.,et al, 2003
Mental Retardation
Neurol 61:156-157, Patterson,M.C. &Zoghbi,H.Y., 2003
Learning Disability
Lancet 362:811-821, Gillberg,C.&Soderstrom,H., 2003
Clinicopath Conf., Lagerhans'-cell Histiocytosis
NEJM 346:513-520, Case 5-2002, 2002
Jaw Drop in Kennedy's Disease
Neurol 59:1471-1472, Sumner,C.J. &Fischbeck,K.H., 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
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
Diagnosis of X-Linked Myotubular Myopathy by Detection of Myotubularin
Ann Neurol 50:42-46, Laporte,J.,et al, 2001
Long-term Effect of Bone-marrow Transplantation for Childhood-onset Cerebral X-linked Adrenoleukodystrophy
Lancet 356:713-718, Shapiro,E. et al, 2000
Amyotrophic lateral Sclerosis Mimic Syndromes, A Population-Based Study
Arch Neurol 57:109-113, Traynor,B.J.,et al, 2000
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000