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Differential
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acyl CoA dehydrogenase deficiency
creatine phosphokinase(CPK)elevated
DNA probes
dystrophin
enzyme, defect
enzyme, muscle disease
ethics in neurology
genetic counselling
genetic diagnosis, prenatal
genetic screening
genetic testing
inborn errors of metabolism
inborn errors of metabolism, screening
mortality
muscular dystrophy
muscular dystrophy, Duchenne
muscular dystrophy, Duchenne, carrier
muscular dystrophy, Duchenne, neonatal screening
muscular dystrophy, Duchenne, presymptomatic detection
neonatal screening, genetic neurologic disorders
neurologic disease, diagnoses of
prenatal diagnosis by amniocentesis
screening
term infant
Showing articles 0 to 50 of 1713 Next >>

Evidence-Based Path to Newborn Screening for Duchenne Muscular Dystrophy
Ann Neurol 71:304-313, Mendell,J.R.,et al, 2012

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

Analysis of Dystrophin Expression after Activation of Myogenesis in Amniocytes, Chorionic-Villus Cells, and Fibroblasts
NEJM 329:915-920, Sancho,S.,et al, 1993

Experience with Screening Newborns for Duchenne Muscular Dystrophy in Wales
BMJ 306:357-360, 3491993., Bradley,D.M.,et al, 1993

Attitudes of Mothers to Neonatal Screening for Duchenne Muscular Dystrophy
BMJ 300:1112, Smith,R.A.,et al, 1990

Gene Studies in Newborn Males with Duchenne Muscular Dystrophy Detected by Neonatal Screening
Lancet 2:425-427, Greenberg,C.R.,et al, 1988

"Boule Du Biceps" in Dysferlinopathy
Neurol 94:83-84, El Sherif, R.,et al, 2020

Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
Neurol 66:1585-1587, Fernandez,C.,et al, 2006

Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004

Sudden Death of a Carrier of X-Linked Emery-Dreifuss Muscular Dystrophy
Ann Int Med 119:900-905, Fishbein,M.C.,et al, 1993

Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023

Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022

Telemedicine in Neurology
Neurol 94:30-38,16, Hatcher-Martin, J.M.,et al, 2020

Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020

Accuracy of a Machine Learning Muscle MRI - Based Tool for the Diagnosis of Muscular Dystrophies
Neurol 94:e1094-e1102, Verdu-Diaz, J.,et al, 2020

Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019

Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018

Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
Neurol 90:e172-e176, Roy, B. & Raynor, E., 2018

Long-term Effects of Glucocorticoids on Function, Quality of Life, and Survival in Patients with Duchenne Muscular Dystrophy: A Prospective Cohort Study
Lancet 391:451-461, McDonald, C.M.,et al, 2018

Persistent Respiratory Failure Following Cardiac Arrest
Neurol 90:e2174-e2178, Fullam, T. & Sladky, J.H., 2018

A 30-year-old Man with Progressive Weakness and Atrophy
Neurol 87:e227-e230, Quinn, C.,et al, 2016

Mechanisms, Causes, and Effects of Hypercapnia
UptoDate Dec, Feller-Kopman, D.J. & Schwartzstein, R.M., 2016

Efficacy of Idebenone on Respiratory Function in Patients with Duchenne Muscular Dystrophy not using Glucocorticoids (DELOS): A Double-Blind Randomised Placebo-Controlled Phase 3 Trial
Lancet 385:1748-1757,1704, Buyse, G.M.,et al, 2015

Palliative Care and Neurology
Neurol 83:561-567, Boersma, I.,et al, 2014

A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014

The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014

Electrophysiological Study with Prophylactic Pacing and Survival in Adults with Myotonic Dystrophy and Conduction System Disease
JAMA 307:1292-1301, Wahbi,K.,et al, 2012

The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012

LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011

Transition to Adult Care for Children with Chronic Neurological Disorders
Ann Neurol 69:437-444, Camfiled, P. & Camfield, C., 2011

Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy
Neurol 77:62-66, Schade van Westrum, S.M.,et al, 2011

Cancer Risk Among Patients with Myotonic Muscular Dystrophy
JAMA 306:2480-2486, Gadalla, S.M.,et al, 2011

Myoglobinuria and Muscle Pain are Common in Patients With Limb-Girdle Muscular Dystrophy 21
Neurol 76:194-195, Mathews,K.D.,et al, 2011

Muscle Histology vs MRI in Duchenne Muscular Dystrophy
Neurol 76:346-353, Kinali,M.,et al, 2011

Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011

Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
Neurol 75:316-323,298, Paradas,C., et al, 2010

New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010

Clinical Features of Facioscapulohumeral Muscular Dystrophy 2
Neurol 75:1548-1554, Greef,J.C.,et al, 2010

Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009

A 49-Year-Old Man with Contractures, Weakness, and Cardiac Arrhythmia
Neurol 72:2036-2043, Kissel,J.T.,et al, 2009

Electrocardiographic Abnormalities and Sudden Death in Myotonic Dystrophy Type 1
NEJM 358:2688-2697, Groh,W.J.,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

Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008

Congenital Muscular Dystrophy
eMedicine (Jan), Lopate,G., 2007

Orthopedic Outcomes of Long-Term Daily Corticosteroid Treatment in Duchenne Muscular Dystrophy
Neurol 68:1607-1613, King,W.M.,et al, 2007

Gene Therapy for Duchenne Muscular Dystrophy: Expectations and Challenges
Arch Neurol 64:1236-1241, Rodino-Klapac,L.R.,et al, 2007

Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006

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

Practice Parameter: Corticosteroid Treatment of Duchenne Dystrophy
Neurol 64:13-20, Moxley,R.T. III.,et al, 2005



Showing articles 0 to 50 of 1713 Next >>