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
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
Dysphagia in Facioscapulohumeral Muscular Dystrophy
Neurol 66:1926-1928, Wohlgemuth,M.,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
Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
Neurol 66:1585-1587, Fernandez,C.,et al, 2006
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
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
West Nile Virus: A Case Report with Flaccid Paralysis and Cervical Spinal Cord MR Imaging Findings
AJNR 26:26-29, Kraushaar, G., et al, 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
Brain Magnetic Resonance Imaging Findings in Patients with Mitochondrial Cytopathies
Arch Neurol 62:737-742, Barragan-Campos,H.M.,et al, 2005
Underappreciated Statin-Induced Myopathic Weakness Causes Disability
Neurorehabil Neural Repair 19:259-263, Dobkin,B.H., 2005
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
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
Benign Calf Amyotrophy
Arch Neurol 60:1415-1420, Felice,K.J.,et al, 2003
The Phenotype of Limb-Girdle Muscular Dystrophy Type 21
Neurol 60:1246-1251,1230, Poppe,M.,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
Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003
Kennedy Disease
Arch Neurol 60:893-894, Paparounas,K.,et al, 2003
Polymyositis and Dermatomyositis
Lancet 362:971-982, Dalakas,M.C.&Hohlfeld,R., 2003
Modafinil Reduces Excessive Somnolence and Enhances Mood in Patients With Myotonic Dystrophy
Neurol 59:1876-1880, MacDonald,J.E.,et al, 2002
Jaw Drop in Kennedy's Disease
Neurol 59:1471-1472, Sumner,C.J. &Fischbeck,K.H., 2002
A Novel, Blood-Based Diagnostic Assay for Limb Girdle Muscular Dystrophy 2B and Miyoshi Myopathy
Ann Neurol 51:129-133, Ho,M.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Oculopharyngeal Muscular Dystrophy in Hispanic New Mexicans
JAMA 286:2437-2440, Becher,M.W.,et al, 2001
Reversible ALS-Like Disorder in HIV Infection
Neurol 57:995-1001,945, Moulignier,A.,et al, 2001
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
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
Amyotrophic lateral Sclerosis Mimic Syndromes, A Population-Based Study
Arch Neurol 57:109-113, Traynor,B.J.,et al, 2000
GCG Genetic Expansions in Italian Patients with Oculopharyngeal Muscular Dystrophy
Neurol 54:608-614, Mirabella,M.,et al, 2000
New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
Neurol 54:1218-1221, The International Myotonic Dystrophy Consortium (I, 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
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
Getting a Grip on the Myotonic Dystrophies
Neurol 52:12-13, Thornton,C.A.&Ashizawa,T., 1999
The Clinical Spectrum of Sarcoglycanopathies
Neurol 52:176-179, Angelini,C.,et al, 1999
Muscle Pain after Exercise
Lancet 353:1062, Nielen,C.&Mazzone,P., 1999
A 10-Year Study of Mortality in a Cohort of Patients with Myotonic Dystrophy
Neurol 52:1658-1662, Mathieu,J.,et al, 1999
The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998
Cardiac Involvement in Genetically Confirmed Facioscapulohumeral Muscular Dystrophy
Neurol 51:1454-1456, Laforet,P.,et al, 1998
Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
JNNP 65:427-431, Hanna,M.G.,et al, 1998
Proton Spectroscopy in Myotonic Dystrophy, Correlations with CTG Repeats
Arch Neurol 55:305-311, 2911998., Chang,L.,et al, 1998
Hirayama Disease:MR Diagnosis
AJNR 19:365-368, Chen,C.,et al, 1998
MR of Extraocular Muscles in Chronic Progressive External Ophthalmoplegia
AJNR 19:95-99, Carlow,T.J.,et al, 1998
Flail Arm Syndrome: A Distinctive Variant of Amyotrophic Lateral Sclerosis
JNNP 65:950-951, Hu, M.T.M.,et al, 1998
Congenital Muscular Dystrophy:Use of Brain MR Imaging to Predict Merosin Deficiency
Radiology 206:811-816, Lamer,S.,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