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
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
Clinicopath Conf., Endheim-Chester Disease
NEJM 359:736-747, Case 25-2008, 2008
Familial Dopa-Responsive Cervical Dystonia
Neurol 66:599-601, Schneider,S.A.,et al, 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
An Expedited Code Stroke Protocol Is Feasible and Safe
Stroke 37:2935-2939,2863, Sattin,J.A.,et al, 2006
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
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
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
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
The Canadian C-Spine Rule Versus the NEXUS Low-Risk Criteria in Patients with Trauma
NEJM 349:2510-2518, Stiell,I.G.,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
Pain in the Neck
Lancet 361:1700, Nicholls,S.,et al, 2003
Jaw Drop in Kennedy's Disease
Neurol 59:1471-1472, Sumner,C.J. &Fischbeck,K.H., 2002
Posterior Circulation Stroke in Childhood
Neurol 59:1552-1556, Ganesan,V.,et al, 2002
Clinicopath Conf., Lagerhans'-cell Histiocytosis
NEJM 346:513-520, Case 5-2002, 2002
Proton MR Spectroscopic Imaging Predicts Lesion Progression on MRI in X-Linked Adrenoleukodystrophy
Neurol 58:901-907, Eichler,F.S.,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
Clinicopath Conf,Invasive Fungal Sinusitis & Osteomyelitis Due to Mucormycosis
NEJM 344:286-293, Case 3-2001, 2001
Radiography of the Lumbar Spine in Primary Care Patients with Low Back Pain: Randomised Controlled Trial
BMJ 322:400-405, Kendrick,D.,et al, 2001
Recurrent Bacterial Meningitis:The Need for Sensitive Imaging
BMJ 323:501-503, Carrol,E.D.,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
Validity of a Set of Clinical Criteria to Rule out Injury to the Cervical Spine in Patients with Blunt Trauma
NEJM 343:94-99,138, Hoffman,J.R. et al, 2000
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 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
Long-Term Follow-Up of Levodopa Responsiveness in Generalized Dystonia
Arch Neurol 55:1320-1323, Dewey,R.B.,et al, 1998
Dopa-Responsive Dystonia, Some Pieces of the Puzzle are Still Missing
Neurol 50:853-855, Nygaard,T.G.&Wooten,G.F., 1998
A Case of Sellar T Cell Type Malignant Lymphoma
No Shinkei Geka 26:53-58, Sakakibara,Y.,et al, 1998
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
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
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
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
Cavernous Sinus Syndrome
Arch Neurol 53:967-971, Keane,J.R., 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
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Development of Cardiomyopathy in Female Carriers of Duchenne and Becker Muscular Dystrophies
JAMA 275:1335-1338, Politano,L.,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
Cognitive Dysfunction as the Major Presenting Feature of Becker's Muscular Dystrophy
Neurol 46:461-465, North,K.N.,et al, 1996