Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Cancer Risk Among Patients with Myotonic Muscular Dystrophy
JAMA 306:2480-2486, Gadalla, S.M.,et al, 2011
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
Polymyositis and Dermatomyositis
Lancet 362:971-982, Dalakas,M.C.&Hohlfeld,R., 2003
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
Neurol 46:810-814, Connolly,A.M.,et al, 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993
The Heart in Myotonic Dystrophy
Editorial, Lancet 339:528-5291992., , 1992
Serial MRI in Fukuyama Type Congenital Muscular Dystrophy
Neuroradiol 34:396-398, Aihara,M.,et al, 1992
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Cardiac Involvement in Myotonic Muscular Dystrophy
Medicine 64:371-387, Moorman,J.R.,et al, 1985
Graves'Disease Presenting with Bilateral Acute Painful Proptosis, Ptosis, Ophthalmoplegia, & Visual Loss
Lancet 2:431-433, Leonard,T.J.K.,et al, 1984
Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979
Clinical Symposia, Scoliosis
CIBA, 30:21978., Keim,H.A., 1978
Polymyositis & Dermatomyositis
NEJM 292:344, 1975, 292:403975., Bohan,A.,et al, 1975
Case Records of MGH-NEJM 289:366
1973 Tuberculoma of Cerebral hemisphere & Brain Stem., , 1973
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Some Neuro-ophthalmological Observations
JNNP 30:383, Fisher,C.M., 1967
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021
Spinal Cord Involvement in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
JAMA Neurol 77:1169-1170, Li, S.,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
A 42-year-old Woman with Progressive Cognitive Difficulties and Gait Imbalance
Neurol 94:e1219-e1226, Slama, M.C.C.,et al, 2020
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
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy
AJNR 39:427-434, Gramegna, L.L.,et al, 2018
Persistent Respiratory Failure Following Cardiac Arrest
Neurol 90:e2174-e2178, Fullam, T. & Sladky, J.H., 2018
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Brain Imaging in Myotonic Dystrophy Type 1
Neurol 89:960-969, Okkersen, K.,et al, 2017
A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016
Complex Regional Pain Syndrome
Neurol 84:89-96, Birklein, F.,et al, 2015
Progressive Neuropsychiatric Symptoms and Motor Impairment
JAMA Neurol 71:794-798, Ghadiri, M.,et al, 2014
The Acquired Metabolic Disorders of the Nervous System, Ischemic-Hypoxic Encephalopathy
Adams & Victors Principles of Neurology Chp 40, pg 1133, Ropper, A.H.,et al, 2014
Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
Neurol 80:e162-e165, Pressman, P.,et al, 2013
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
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
A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
Neurol 72:1607-1613, Lossos,A.,et al, 2009
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
What Are the Prospects of Stem Cell Therapy for Neurology?
BMJ 337:1325-1327, Chandran,S., 2008
Sporadic Adult-Onset Leukoencephalopathy with Neuroaxonal Spheroids Mimicking Cerebral MS
Neurol 70:1128-1133, Keegan,B.M.,et al, 2008