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The Nondystrophic Myotonias
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Myotonic Dystrophy
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Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Becker Muscular Dystrophy with Onset after 60 Years
Neurol 44:2388-2390, Heald,A.,et al, 1994
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Rapid Direct Diagnosis of Deletions Carriers of Duchenne and Becker Muscular Dystrophies
Lancet 344:302-303, Fassati,A.,et al, 1994
Myotonic Dystrophy with No Trinucleotide Repeat Expansion
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Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
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Cardiomyopathy May Be the Only Clinical Manifestation in Female Carriers of Duchenne Muscular Dystrophy
Neurol 43:2342-2345, Mirabella,M.,et al, 1993
Sudden Death of a Carrier of X-Linked Emery-Dreifuss Muscular Dystrophy
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Molecular Genetics in Neurology
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The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993
Neuropathic Findings in Oculopharyngeal Muscular Dystrophy, Seven Cases & Review of Literature
Arch Neurol 50:481-488, Hardiman,O.,et al, 1993
Cyclosporine Increases Muscular Force Generation in Duchenne Muscular Dystrophy
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Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
NEJM 328:471-475, Shelbourne,P.,et al, 1993
Brief Report:Reverse Mutation in Myotonic Dystrophy
NEJM 328:476-480, Brunner,H.G.,et al, 1993
Genetics and Physiology of the Myotonic Muscle Disorders
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Diag of Occult Muscular Dystrophy:"Chance"Finding of Elevated Serum Aminotransferase Act
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Experience with Screening Newborns for Duchenne Muscular Dystrophy in Wales
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Duchenne Dystrophy:Randomized, Controlled Trial of Prednisone (18 months) & Azathioprine (12 months)
Neurol 43:520-527, Griggs,R.C.,et al, 1993
Abnormal Expression of Dystrophin-Associated Proteins in Fukuyama-Type Congenital Muscular Dystrophy
Lancet 341:521-522, Matsumura,K.,et al, 1993
Analysis of Dystrophin Expression after Activation of Myogenesis in Amniocytes, Chorionic-Villus Cells, and Fibroblasts
NEJM 329:915-920, Sancho,S.,et al, 1993
Duchenne Muscular Dystrophy:Deficiency of Dystrophin-Associated Proteins in the Sarcolemma
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Gene Therapy for Duchenne Dystrophy
Ann Neurol 34:3-4, Engel,A.G., 1993
Myoblast Transfer in Duchenne Muscular Dystrophy
Ann Neurol 34:8-18, Karpati,G.,et al, 1993
Cerebral Abnormalities in Myotonic Dystrophy
Arch Neurol 50:917-923, Chang,L.,et al, 1993
Ophthalmologic Manifestations in MELAS Syndrome
Arch Neurol 50:977-980, Fang,W.,et al, 1993
Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992
Mosaic Express of Dystrophin in Carriers of Becker's Muscular Dyst & X-Linked Synd of Myalgia & Cramps
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Upper Gastrointestinal Tract Motility in Children with Progressive Muscular Dystrophy
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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Skeletal Muscle Toxoplasmosis in Patients with Acquired Immunodeficiency Syndrome:A Clinicopath Study
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Dystrophinopathy in Isolated Cases of Myopathy in Females
Neurol 42:967-975, Hoffman,E.P.,et al, 1992
Detection of Duchenne and Becker MD Carriers by Quant Multiplex Polymerase Chain Reaction
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Diagnosis of Duchenne & Becker Muscular Dystrophies by Polymerase Chain Reaction
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Oculomotor, Auditory, and Vestib ular Responses in Myotonic Dystrophy
Arch Neurol 49:954-960, Verhagen,W.I.M.,et al, 1992
Unstable DNA Sequence in Myotonic Dystrophy
Lancet 339:1125-1128, Harley,H.G.,et al, 1992
Phenotypic Expression of the Myotonic Dystrophy Gene in Monozygotic Twins
Neurol 42:1815-1817, Dubel,J.R.,et al, 1992
ELISA Quantitation of Dystrophin for the Diagnosis of Duchenne and Becker Muscular Dystrophies
Neurol 42:570-576, Byers,T.J.,et al, 1992
The Heart in Myotonic Dystrophy
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Clinicopath Conf
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Serial MRI in Fukuyama Type Congenital Muscular Dystrophy
Neuroradiol 34:396-398, Aihara,M.,et al, 1992
Ventricular Late Potentials in Myotonic Dystrophy
Ann Int Med 115:607-613, Milner,M.R.,et al, 1991
Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
NEJM 324:1318-1325, Charnas,L.R.,et al, 1991
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Long-Term Benefit from Prednisone Therapy in Duchenne Muscular Dystrophy
Neurol 41:1874-1877, Fenichel,G.M.,et al, 1991
Prednisone in Duchenne Dystrophy, A Randomized, Controlled Trial Defining the Time Course & Dose Response
Arch Neurol 48:383-388, Griggs,R.C.,et al, 1991
Mononuclear Cell Analysis of Muscle Biopsies in Prednisone-Treated & Untreated Duchenne Muscular Dystrophy
Neurol 41:667-672, Kissel,J.T.,et al, 1991
A Comparison of Daily and Alternate-Day Prednisone Therapy in the Treatment of Duchenne Muscular Dystrophy
Arch Neurol 48:575-579, Fenichel,G.M.,et al, 1991