Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003
Pain in the Neck
Lancet 361:1700, Nicholls,S.,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
Clinicopath Conf,Invasive Fungal Sinusitis & Osteomyelitis Due to Mucormycosis
NEJM 344:286-293, Case 3-2001, 2001
Diagnosis of X-Linked Myotubular Myopathy by Detection of Myotubularin
Ann Neurol 50:42-46, Laporte,J.,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
Combined VIth and XIIth Cranial Nerve Palsies: A Clival Syndrome
Neurol 54:1540-1541, Keane,J.R., 2000
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Amyotrophic lateral Sclerosis Mimic Syndromes, A Population-Based Study
Arch Neurol 57:109-113, Traynor,B.J.,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
Medical Complications in Long-Term Survivors with X-Linked Myotubular Myopathy
J Pediatr 134:206-214, Herman,G.E.,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
Lovastatin for X-Linked Adrenoleukodystrophy
NEJM 339:702-703, Singh,I.,et al, 1998
A Case of Sellar T Cell Type Malignant Lymphoma
No Shinkei Geka 26:53-58, Sakakibara,Y.,et al, 1998
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
Persistent High MR Signal of the Posterior Pituitary Gland in Central Diabetes Insipidus
AJNR 18:1749-1752, Maghnie,M.,et al, 1997
X-Linked Vacuolated Myopathy:Membrane Attack Complex Depos on Muscle Fiber Membr with Calcium Accumul on Sarcolemma
Ann Neurol 41:117-120, Louboutin,J.P.,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
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
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
Cognitive Dysfunction as the Major Presenting Feature of Becker's Muscular Dystrophy
Neurol 46:461-465, North,K.N.,et al, 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
Cavernous Sinus Syndrome
Arch Neurol 53:967-971, Keane,J.R., 1996
Distal WEakness in Dystrophin-Deficient Muscular Dystrophy
Muscle & Nerve 19:1608-1610996., Felice,K.J., 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
Evaluation of the Cardiomyopathy in Becker Muscular Dystrophy
Muscle & Nerve 18:283-291995., Nigro,G.,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
MR Findings in Adult-Onset Adrenoleukodystrophy
AJNR 16:1227-1237, Kumar,A.J.,et al, 1995
Dopamine, Dystonia, and the Deficient Co-Factor
Lancet 345:1130, Williams,A.C., 1995
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
Becker Muscular Dystrophy with Onset after 60 Years
Neurol 44:2388-2390, Heald,A.,et al, 1994
Giant Intracranial Aneurysms with Skull Base Erosion and Extracranial Masses:CT and MR Findings
J Comput Assist Tomogr 18:939-942, Fisher,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
Lancet 344:302-303, Fassati,A.,et al, 1994
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