Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
Lancet 369:37-42,5, Wilcken,B.,et al, 2007
Segmental Zoster Paresis of Limbs: Report of Three Cases and Review of Literature
Neurologist 13:313-317, Kawajiri,S.,et al, 2007
Gene Therapy for Duchenne Muscular Dystrophy: Expectations and Challenges
Arch Neurol 64:1236-1241, Rodino-Klapac,L.R.,et al, 2007
Neuralgic Amyotrophy, Diagnosed With Magnetic Resonance Neurography in Acute Stage: A Case Report and Review of the Literature
The Neurologist 13:219-221, Duman,I.,et al, 2007
Proximal Paresis of the Upper Extremity in Patients With Stroke
Neurol 69:348-355, Hatakenaka,M.,et al, 2007
Clinicopath Conf., Severe Microangiopathy of Diabetic Vasculopathy with Multiple Cerebral Infarcts
NEJM 357:164-173, Case Study 21-2007, 2007
Clinicopath Conf,Lyme Disease of the Nervous System
NEJM 356:1561-1570, Case Record 11-2007, 2007
Orthopedic Outcomes of Long-Term Daily Corticosteroid Treatment in Duchenne Muscular Dystrophy
Neurol 68:1607-1613, King,W.M.,et al, 2007
Dysphagia in Facioscapulohumeral Muscular Dystrophy
Neurol 66:1926-1928, Wohlgemuth,M.,et al, 2006
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
Neurol 66:1585-1587, Fernandez,C.,et al, 2006
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
The Clinical Spectrum of Neuralgic Amyotrophy in 246 cases
Brain 129:438-450, Alfen, N.V. & Baziel, G.M., 2006
Clinicopath Conf,Encephalomyelitis Due to West Nile Virus and CLL, Case 22-2005
NEJM 353:287-295, Hollande,H.,et al, 2005
Isolated Monoparesis Following Stroke
JNNP 76:805-807, Paciaroni,M.,et al, 2005
Cervical Radiculopathy
NEJM 353:392-399, Carette,S. &Fehlings,M.G., 2005
Neurological and Neuromuscular Disease as a Risk Factor for Respiratory Failure in Children Hospitalized With Influenza Infection
JAMA 294:2188-2194, Keren,R.,et al, 2005
Radiculoplexopathy with Conduction Block Caused by Acute Epstein-Barr Virus Infection
Neurol 64:530-532, Vucic, S., et al, 2005
Brain Magnetic Resonance Imaging Findings in Patients with Mitochondrial Cytopathies
Arch Neurol 62:737-742, Barragan-Campos,H.M.,et al, 2005
Practice Parameter: Corticosteroid Treatment of Duchenne Dystrophy
Neurol 64:13-20, Moxley,R.T. III.,et al, 2005
Intermittent Prednisone Therapy in Duchenne Muscular Dystrophy
Arch Neurol 62:128-132, Beenakker,E.A.C.,et al, 2005
Severe Cardiac Arrhythmias in Young Patients with Myotonic Dystrophy Type 1
Neurol 63:1939-1941, Bassez,G.,et al, 2004
Sudden Cardiac Death in Myotonic Dystrophy Type 2
Neurol 63:2402-2404, Schoser,B.G.H.,et al, 2004
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
Amyloid Myopathy Presenting with Distal Atrophic Weakness
Muscle Nerve 29:605-609, Smestad, C.,et al, 2004
Diagnosing Suprascapular Neuropathy in Patients with Shoulder Dysfunction: A Report of 5 Cases
Physther 84:359-372, Walsworth, M.K.,et al, 2004
Neuropathological Findings in West Nile Virus Encephalitis: A Case Report
Ann Neurol 54:547-551, Agamanolis,D.P.,et al, 2003
Clinicopath Conf., Colchicine Myoneuropathy
NEJM 349:1656-1663, Case 33-2003, 2003
Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003
Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy
Stroke 34:901-908, Boriani,G.,et al, 2003
Modafinil Reduces Excessive Somnolence and Enhances Mood in Patients With Myotonic Dystrophy
Neurol 59:1876-1880, MacDonald,J.E.,et al, 2002
Difference in Distribution of Muscle Weakness Between Myasthenia Gravis and the Lambert-Eaton Myasthenic Syndrome
JNNP 73:766-768, Wirtz,P.W.,et al, 2002
New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002
Poliomyelitis Due to West Nile Virus
NEJM 347:1280-1281, Glass,J.D.,et al, 2002
A Diffusion-Weighted MRI Study of Acute Ischemic Distal Arm Paresis
Neurol 57:1589-1594, Gass,A.,et al, 2001
New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
Neurol 54:1218-1221, The International Myotonic Dystrophy Consortium (I, 2000
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Pressure-Controlled Ventilation Via a Mini-Tracheostomy Tube for Patients with Neuromuscular Disease
Neurol 55:698-702,613,615, 611, Nomori,H. & Ishihara,T., 2000
Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
Ann Neurol 47:152-161, 143, Flanigan,K.M.,et al, 2000
GCG Genetic Expansions in Italian Patients with Oculopharyngeal Muscular Dystrophy
Neurol 54:608-614, Mirabella,M.,et al, 2000
Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
NEJM 341:1037-1044, 1077, Andreu,A.L.,et al, 1999
Age and Cause of Death in Mitochondrial Diseases
Neurol 53:855-857, Klopstock,T.,et al, 1999
Antithrombotic Therapy to Prevent Stroke in Patients with Atrial Fibrillation:A Meta-Analysis
Ann Int Med 131:492-501,537, Hart,R.G.,et al, 1999
A 10-Year Study of Mortality in a Cohort of Patients with Myotonic Dystrophy
Neurol 52:1658-1662, Mathieu,J.,et al, 1999
Neuralgic Amyotrophy with Phrenic Nerve Involvement
Muscle & Nerve 22:437-442,435, Lahrmann,H.,et al, 1999
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999