Mitochondrial DNA Polymerase-y and Human Disease
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Recurrent Acroparaesthesia During Febrile Infections
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Primary Respiratory Failure in Inclusion Body Myositis
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The Phenotype of Limb-Girdle Muscular Dystrophy Type 21
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A Poliomyelitis-like Syndrome from West Nile Virus Infection
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Nemaline Myopathy:A Clinical Study of 143 Cases
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Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Prader-Willi and Angelman Syndromes
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Steroid Myopathy in Cancer Patients
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Acute Corticosteroid Myopathy in Intensive Care Patients
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The Clinical Introduction of Genetic Testing for Alzheimer Disease, An Ethical Perspective
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Is Chronic Respiratory Failure in Neuromuscular Diseases Worth Treating
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Wolfram Syndrome:Hereditary Diabetes Mellitus with Brainstem and Optic Atrophy
Ann Neurol 39:352-360, Scolding,N.J.,et al, 1996
Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Acute Myopathy of Intensive Care:Clinical, Electromyographic, and Pathological Aspects
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Mitochondrial DNA and Disease
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Prolonged Paralysis After Neuromuscular Blockage
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Critical Illness Neuromuscular Disease in Children Manifested as Ventilatory Dependence
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Neurodegeneration and Diabetes:UK Nationwide Study of Wolfram (DIDMOAD) Syndrome
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Anticonvulsant Hypersensitivity Syndrome
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Rapidly Evolving Myopathy with Myosin-Deficient Muscle Fibers
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Early-Onset Respiratory Failure Caused by Severe Congenital Neuromuscular Disease
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A Clinical Study of Noonan Syndrome
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Eosinophilia-Myalgia Syndrome, A Clinical Case Series of 21 Patients
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Legionella Myositis
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Myopathy and Prolonged Neuromuscular Blockade after Lung Transplant
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Acute Intermittent Porphyria
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Night-Time Nasal Ventilation in Neuromuscular Disease
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Neurologic Crises in Hereditary Tyrosinemia
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A Mitochondrial DNA Mutation as a Cause of Leber's Hereditary Optic Neuropathy
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Rigid Spine Syndrome and Rigid Spine Sign in Myopathies
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Respiratory Muscle Weakness in Charcot-Marie-Tooth Disease, A Field Study
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Fatal Adult Respiratory Distress Syndrome in a Patient with Lyme Disease
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Respiratory Muscle Dysfunction in Hereditary Motor Sensory Neuropathy, Type I
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Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
The Lambert-Eaton Myasthenic Syndrome, A Review of 50 Cases
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Neurotoxic Effects of Organophosphorus Insecticides:An Intermediate Syndrome
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Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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MELAS Syndrome Involving a Mother & Two Children
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Cervicomedullary Compression in Young Patients with Achondroplasia:Value of Neurologic & Respiratory Eval
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Acute Arsenic Intoxication Presenting as Guillain-Barre-Like Syndrome:Donofrio
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