An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Adult Patient Presenting with Spine Pain Following a Motor Vehicle Accident
Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019
A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
Neurol 93:557-561, Urso, D.,et al, 2019
Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017
Characyeristic features and progression of abnormalities on MRI for CARASIL
Neurol 85:459-463, Sekine, Y., etal, 2015
Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,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
Dopa-Responsive Dystonia Revisited
Arch Neurol 69:1558-1562, Tadic, V.,et al, 2012
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Alexander Disease, Ventricular Garlands and Abnormalities of the Medulla and Spinal Cord
Neurol 66:494-498,468, van der Knaap,M.S.,et al, 2006
Clinicopath Conf, Von Hippel Lindau Disease, Adrenal Pheochromocytoma, Brain-Stem and Spinal Cord Hemangioblastoma
NEJM 355:394-402, Case 23-2006, 2006
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006
Clinicopath Conf, Neurofibromatosis Type 1, with Multiple Spinal Neurofibromas
NEJM 352:1800-1808, Case 13-2005, 2005
Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003
New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002
Jaw Drop in Kennedy's Disease
Neurol 59:1471-1472, Sumner,C.J. &Fischbeck,K.H., 2002
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
Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993