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001 ocn923009432
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008 150425s2015 nyu ob 001 0 eng
010 _a 2020688007
040 _aDLC
_beng
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019 _a947129237
020 _a9781634829175
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020 _a1634829174
020 _z9781634829052
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020 _z1634829050
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035 _a1078033
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035 _a(OCoLC)923009432
_z(OCoLC)947129237
072 7 _aHEA
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072 7 _aMED
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072 7 _aMED
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049 _aMAIN
245 0 0 _aMyotonic dystrophies :
_bepidemiology, diagnosis and therapeutic challenges
_c
_h[E-Book]
264 1 _aNew York :
_bNova Biomedical,
_c[2015]
300 _a1 online resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
490 1 _aNeuroscience research progress
504 _aIncludes bibliographical references and index.
588 _aDescription based on print version record.
505 0 _aMYOTONIC DYSTROPHIES EPIDEMIOLOGY, DIAGNOSIS AND THERAPEUTIC CHALLENGES ; MYOTONIC DYSTROPHIES EPIDEMIOLOGY, DIAGNOSIS AND THERAPEUTIC CHALLENGES ; Contents ; Preface ; Chapter 1 Epidemiology of Myotonic Dystrophy in the Molecular Era: Implications for Clinical Trials and Association Studies ; Abstract ; Introduction ; The Population Origins of DM1 ; The Epidemiology of DM1 ; The Epidemiology of DM2 ; Implications for Clinical Trials and Association Studies ; Conclusion ; References ; Chapter 2 Detecting and Targeting RNA: Biomarkers and Therapy for Myotonic Dystrophy ; Abstract
505 8 _aIntroduction Development of Biomarkers for Myotonic Dystrophy Type 1 (DM1) ; Blood-based Biomarkers ; Tissue Biomarkers ; Cerebrospinal Fluid Biomarkers ; Potential Therapeutic Applications for DM1 ; Targeting the Pathogenic DM1 RNA Transcripts ; Exogenous Induction of MBNL1 and CUGBP1 Protein Activity ; Conclusion; References; Chapter 3 Endocrine System Involvement in Myotonic Dystrophy: Emerging Interactions and Potential Therapeutic Strategies ; Abstract; Introduction ; Parathyroid and Thyroid-Related Hormones ; Vitamin D ; Insulin Resistance and Metabolic Syndrome
505 8 _aAdrenocortical Activity Hypogonadism and Fertility ; Conclusion ; References ; Chapter 4 Central Nervous System Involvement in Myotonic Dystrophies ; Abstract ; Introduction ; Cognitive Impairment in Myotonic Dystrophy Type 1 (DM1, Steinert's Disease) ; Cognitive Involvement in DM2 ; Sleep Related Disorders in DM1 and DM2 ; Conclusion ; References ; Chapter 5 Strategies for Neuromuscular Blockade in Patients with Myotonic Dystrophy ; Abstract ; The Physiology of Neuromuscular Transmission ; Myotonic Pathophysiology from an Anaesthesiology Viewpoint ; Premedication
505 8 _aInduction of Anaesthesia Response to Muscle Relaxants ; Reverse of Neuromuscular Blockade ; Other Perioperative Triggers ; Management of Anaesthesia in Patients with Myotonic Dystrophy; Caesarean Section ; Scoliosis Surgery ; General Surgery ; Conclusion ; Acknowledgment ; Reference; Chapter 6 Functional Assessment and Rehabilitative Treatment in Myotonic Dystrophy Type 1 ; Abstract ; Introduction; 1. Functional Assessment ; 1.1. Muscle Strength; 1.2. Posture and Gait Abilities ; Clinical Evaluation: Muscle Efficiency ; Rehabilitative Treatment ; References
505 8 _aChapter 7 Protein Kinase Inhibitors As Potential Therapeutic Agents to Ameliorate Pathogenesis of Myotonic Dystrophy Type 1 (DM1) Abstract ; Introduction; Toxicity of Mutant CUG Repeat RNA and Misregulation of Proteins in DM1 ; Therapeutic Approaches in DM1 ; Potential Mechanisms of Action of Small Molecule Kinase Inhibitors ; Conclusion ; Acknowledgments ; References ; Chapter 8 Variant Interrupted DMPK Alleles: Implications in the Pathogenesis and Molecular Diagnosis of Myotonic Dystrophy Type 1 (DM1) ; Abstract; Molecular Genetics of the DM1 Mutation
590 _aMaster record variable field(s) change: 050, 082
650 0 _aMyotonia atrophica
_xTreatment.
650 2 _aMyotonic Dystrophy
_xtherapy.
700 1 _aJenkins, Sandra
_c(Writer on Myotonic dystrophies),
_eeditor.
830 0 _aNeuroscience research progress.
856 _u#gotoholdings
_yAccess resource
938 _aProQuest Ebook Central
_bEBLB
_nEBL4189164
938 _aYBP Library Services
_bYANK
_n12428456
938 _aEBSCOhost
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_n1078033
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999 _c92279
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