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1. Full Text Computer-based assessment for facioscapulohumeral dystrophy diagnosis
by Chambers, O.|Milenković, J.|Pražnikar, A.|Tasič, J.F
Computer Methods and Programs in Biomedicine, ISSN 0169-2607, 2015, Volume 120, Issue 1, pp. 37 - 48
Highlights • A novel method for lower-limb muscle segmentation is proposed. • The proposed method is insensitive to the muscle fat infiltration and shape... 
Internal Medicine | Other | FSHD | Muscle-region segmentation | MRI | Hyperintensity quantification | Muscle dystrophy | MEDICAL INFORMATICS | ENGINEERING, BIOMEDICAL | VOLUME | MUSCLE | COMPUTER SCIENCE, INTERDISCIPLINARY APPLICATIONS | THIGH | FAT | SEGMENTATION | COMPUTER SCIENCE, THEORY & METHODS | MR-IMAGES | ADIPOSE-TISSUE | Automation | Reproducibility of Results | Diagnosis, Computer-Assisted | Muscular Dystrophy, Facioscapulohumeral - diagnosis | Humans | Middle Aged | Adipose Tissue - pathology | Male | Muscles - pathology | Magnetic Resonance Imaging | Algorithms | Image Processing, Computer-Assisted | Leg - pathology | Adult | Female | Software | Cluster Analysis | Electrical engineering | Index Medicus
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2. Full Text Making sense of the muscular dystrophies: Diagnosis and treatment guideline for limb‐girdle muscular dystrophy
by England, John D
Muscle & Nerve, ISSN 0148-639X, 11/2014, Volume 50, Issue 5, pp. 721 - 722
NEUROSCIENCES | CLINICAL NEUROLOGY | Guidelines as Topic - standards | Muscular Dystrophies, Limb-Girdle - diagnosis | Muscular Dystrophies, Limb-Girdle - therapy | Humans | Practice guidelines (Medicine) | Index Medicus
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3. Full Text Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine
by Narayanaswami, Pushpa and Weiss, Michael and Selcen, Duygu and David, William and Raynor, Elizabeth and Carter, Gregory and Wicklund, Matthew and Barohn, Richard J and Ensrud, Erik and Griggs, Robert C and Gronseth, Gary and Amato, Anthony A and Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine and Guideline Development Subcommittee of the American Academy of Neurology
Neurology, ISSN 0028-3878, 10/2014, Volume 83, Issue 16, pp. 1453 - 1463
OBJECTIVE:To review the current evidence and make practice recommendations regarding the diagnosis and treatment of limb-girdle muscular dystrophies (LGMDs).... 
POPULATION | FHL1 MUTATIONS | SKELETAL MYOPATHY | MUSCULAR-DYSTROPHY | PREVALENCE | DYSTROGLYCAN | REDUCING BODY MYOPATHY | PHENOTYPIC SPECTRUM | EPIDEMIOLOGY | CLINICAL NEUROLOGY | DESMIN GENE | Diagnosis, Differential | Muscular Dystrophies, Limb-Girdle - diagnosis | Muscular Dystrophies - therapy | Muscular Dystrophies, Limb-Girdle - genetics | Muscular Dystrophies, Limb-Girdle - therapy | Humans | Muscular Dystrophies, Limb-Girdle - physiopathology | Muscular Dystrophies - diagnosis | Evidence-Based Medicine | Muscular Dystrophies - genetics | Muscular Dystrophies - physiopathology | Index Medicus | Abridged Index Medicus | 176 | 242 | 228 | Special
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4. Full Text Diagnostic approach to the congenital muscular dystrophies
by Bönnemann, Carsten G.|Wang, Ching H.|Quijano-Roy, Susana|Deconinck, Nicolas|Bertini, Enrico|Ferreiro, Ana|Muntoni, Francesco|Sewry, Caroline|Béroud, Christophe|Mathews, Katherine D.|Moore, Steven A.|Bellini, Jonathan|Rutkowski, Anne|North, Kathryn N and Int Stand Care Comm Congenital Mus and Members of International Standard of Care Committee for Congenital Muscular Dystrophies
Neuromuscular Disorders, ISSN 0960-8966, 2014, Volume 24, Issue 4, pp. 289 - 311
Abstract Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital... 
Neurology | Alpha-dystroglycan | RYR1 | Laminin alpha2 | SEPN1 | Congenital muscular dystrophy | Diagnostic guideline | Lamin A/C | Collagen VI | VI-RELATED MYOPATHIES | FUKUTIN GENE-MUTATIONS | LAMININ ALPHA-2 CHAIN | WALKER-WARBURG-SYNDROME | NEUROSCIENCES | CLINICAL NEUROLOGY | FIBER-TYPE DISPROPORTION | SELENOPROTEIN-N GENE | MITOCHONDRIAL STRUCTURAL ABNORMALITIES | RIGID SPINE SYNDROME | COLLAGEN-VI | VARIABLE CLINICAL PHENOTYPE | Diagnosis, Differential | Brain - physiopathology | Humans | Infant | Muscular Dystrophies - genetics | Muscular Dystrophies - pathology | Consensus | Magnetic Resonance Imaging | Leg - pathology | Brain - pathology | Muscular Dystrophies - diagnosis | Leg - physiopathology | Child | Muscular Dystrophies - physiopathology | Genetic disorders | Diagnosis | Index Medicus | Life Sciences | Genetics | Molecular biology | Biochemistry, Molecular Biology | Human genetics | Lamin A
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5. Full Text Quantifying cancer absolute risk and cancer mortality in the presence of competing events after a myotonic dystrophy diagnosis
by Gadalla, Shahinaz M and Pfeiffer, Ruth M and Kristinsson, Sigurdur Y and Björkholm, Magnus and Hilbert, James E and Moxley III, Richard T and Landgren, Ola and Greene, Mark H
PLoS ONE, ISSN 1932-6203, 11/2013, Volume 8, Issue 11, pp. e79851 - e79851
Recent studies show that patients with myotonic dystrophy (DM) have an increased risk of specific malignancies, but estimates of absolute cancer risk... 
SURVIVAL | CTG REPEAT | GENE | MULTIDISCIPLINARY SCIENCES | EXPANSION | MUSCULAR-DYSTROPHY | DEATH | TYPE-1 | Humans | Middle Aged | Child, Preschool | Neoplasms - mortality | Infant | Male | Risk | Sweden - epidemiology | Young Adult | Neoplasms - complications | Myotonic Dystrophy - complications | Adolescent | Aged, 80 and over | Denmark - epidemiology | Female | Registries | Aged | Child | Infant, Newborn | Neoplasms - epidemiology | Medical research | Myotonic dystrophy | Patient outcomes | Mortality | Medicine, Experimental | Development and progression | Research | Diagnosis | Risk factors | Cancer | Disease | Thyroid gland | Males | Kinases | Epidemiology | Population | Age | Neuromuscular diseases | Hematology | Health risks | Medical screening | Patients | Morbidity | Studies | Neurology | Hospitals | Fatalities | Dystrophy | Health risk assessment | Females | Index Medicus | Neurologi | Klinisk medicin | Medicin och hälsovetenskap | Cancer och onkologi
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6. Full Text Elevated CPK: No shortcut to muscular dystrophy diagnosis
by Charlotte E Thompson
Contemporary Pediatrics, ISSN 8750-0507, 12/2017, Volume 34, Issue 12, pp. 9 - 14
SIGNAL RECOGNITION PARTICLE MYOPATHY Signal recognition particle (SRP) myopathy is a fairly newly described disorder that mimics polymyositis.5 It can also be... 
Pediatrics | Parents & parenting | Congenital diseases | Biopsy | Families & family life | Family medical history | Medical diagnosis | Patients | Muscular dystrophy | Children & youth
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7. Full Text The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
by Savarese, Marco and Di Fruscio, Giuseppina and Torella, Annalaura and Fiorillo, Chiara and Magri, Francesca and Fanin, Marina and Ruggiero, Lucia and Ricci, Giulia and Astrea, Guja and Passamano, Luigia and Ruggieri, Alessandra and Ronchi, Dario and Tasca, Giorgio and DʼAmico, Adele and Janssens, Sandra and Farina, Olimpia and Mutarelli, Margherita and Marwah, Veer Singh and Garofalo, Arcomaria and Giugliano, Teresa and Sanpaolo, Simone and Del Vecchio Blanco, Francesca and Esposito, Gaia and Piluso, Giulio and DʼAmbrosio, Paola and Petillo, Roberta and Musumeci, Olimpia and Rodolico, Carmelo and Messina, Sonia and Evilä, Anni and Hackman, Peter and Filosto, Massimiliano and Di Iorio, Giuseppe and Siciliano, Gabriele and Mora, Marina and Maggi, Lorenzo and Minetti, Carlo and Sacconi, Sabrina and Santoro, Lucio and Claes, Kathleen and Vercelli, Liliana and Mongini, Tiziana and Ricci, Enzo and Gualandi, Francesca and Tupler, Rossella and De Bleecker, Jan and Udd, Bjarne and Toscano, Antonio and Moggio, Maurizio and Pegoraro, Elena and Bertini, Enrico and Mercuri, Eugenio and Angelini, Corrado and Santorelli, Filippo Maria and Politano, Luisa and Bruno, Claudio and Comi, Giacomo Pietro and Nigro, Vincenzo
Neurology, ISSN 0028-3878, 07/2016, Volume 87, Issue 1, pp. 71 - 76
OBJECTIVE:To apply next-generation sequencing (NGS) for the investigation of the genetic basis of undiagnosed muscular dystrophies and myopathies in a very... 
DIAGNOSIS | PHENOTYPES | DUCHENNE | NEUROMUSCULAR DISORDERS | MENDELIAN DISEASE | CLINICAL NEUROLOGY | Genetic Variation | Diagnosis, Differential | Humans | Female | Italy | Male | Muscular Dystrophies - diagnosis | Sequence Analysis | Muscular Dystrophies - genetics | Cohort Studies | Index Medicus | Abridged Index Medicus | 185
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8. Full Text Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine
by Kang, Peter B and Morrison, Leslie and Iannaccone, Susan T and Graham, Robert J and Bönnemann, Carsten G and Rutkowski, Anne and Hornyak, Joseph and Wang, Ching H and North, Kathryn and Oskoui, Maryam and Getchius, Thomas S.D and Cox, Julie A and Hagen, Erin E and Gronseth, Gary and Griggs, Robert C and Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine
Neurology, ISSN 0028-3878, 03/2015, Volume 84, Issue 13, pp. 1369 - 1378
OBJECTIVE:To delineate optimal diagnostic and therapeutic approaches to congenital muscular dystrophy (CMD) through a systematic review and analysis of the... 
ALPHA-DYSTROGLYCAN | POMT1 GENE | DEFECTIVE GLYCOSYLATION | WALKER-WARBURG-SYNDROME | MUSCLE | PHENOTYPE | MUTATIONS | EYE-BRAIN DISEASE | DEFICIENCY | CLINICAL NEUROLOGY | Academies and Institutes | Muscular Dystrophies - therapy | Humans | Child, Preschool | Disease Management | Muscular Dystrophies - diagnosis | Evidence-Based Medicine | Index Medicus | Abridged Index Medicus | 242 | 91 | 118 | Special | 185 | 227
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9. Muscular dystrophy
: methods and protocols
by Anderson, Louise V. B and Bushby, Katherine M. D and SpringerLink (Online service)
2001, Methods in molecular medicine, ISBN 0896036952, Volume 43, xii, 457
With the molecular mechanisms underlying the various forms of muscular dystrophy now rapidly clarifying, precise diagnosis has become a reality, and even a... 
Muscular Dystrophies | genetics | Genetics, Biochemical | diagnosis | Genetic Screening | Molecular aspects | Muscular dystrophy | Neuromuscular diseases | Laboratory manuals | Neurology | Medicine & Public Health
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10. Full Text Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association
by Feingold, Brian and Mahle, William T and Auerbach, Scott and Clemens, Paula and Domenighetti, Andrea A and Jefferies, John L and Judge, Daniel P and Lal, Ashwin K and Markham, Larry W and Parks, W James and Tsuda, Takeshi and Wang, Paul J and Yoo, Shi-Joon and Council Functional Genomics Tra and Stroke Council and Amer Heart Assoc Pediat Heart Fail and Council Cardiovascular Radiology and Council Clinical Cardiology and American Heart Association Pediatric Heart Failure Committee of the Council on Cardiovascular Disease in the Young; Council on Clinical Cardiology; Council on Cardiovascular Radiology and Intervention; Council on Functional Genomics and Translational Biology; and Stroke Council
Circulation, ISSN 0009-7322, 08/2017, Volume 136, Issue 13, pp. e200 - e231
For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made... 
Neuromuscular disease | Pediatrics | Cardiomyopathy | Muscular dystrophy | AHA Scientific Statements | CARDIAC & CARDIOVASCULAR SYSTEMS | CARDIOVASCULAR MAGNETIC-RESONANCE | MECHANICAL CIRCULATORY SUPPORT | neuromuscular disease | CONVERTING ENZYME-INHIBITORS | LUNG TRANSPLANTATION GUIDELINES | LEFT-VENTRICULAR NONCOMPACTION | muscular dystrophy | pediatrics | CHEYNE-STOKES RESPIRATION | LAMIN A/C GENE | PERIPHERAL VASCULAR DISEASE | DUCHENNE MUSCULAR-DYSTROPHY | MYOCARDIAL DELAYED ENHANCEMENT | cardiomyopathy | CARDIOSELECTIVE BETA-BLOCKERS | Myotonic Dystrophy - metabolism | Barth Syndrome - metabolism | Friedreich Ataxia - pathology | Myotonic Dystrophy - diagnosis | United States | Humans | Myopathies, Structural, Congenital - genetics | Neuromuscular Diseases - pathology | Barth Syndrome - pathology | Myotonic Dystrophy - pathology | Muscular Dystrophy, Emery-Dreifuss - diagnosis | Cardiomyopathies - diagnosis | Neuromuscular Diseases - diagnosis | Muscular Dystrophies, Limb-Girdle - pathology | Friedreich Ataxia - metabolism | Muscular Dystrophies, Limb-Girdle - diagnosis | Muscular Diseases - metabolism | Risk Factors | Friedreich Ataxia - diagnosis | Muscular Dystrophy, Emery-Dreifuss - pathology | Cardiomyopathies - pathology | Muscular Dystrophy, Duchenne - pathology | Muscular Diseases - pathology | Barth Syndrome - diagnosis | American Heart Association | Muscular Diseases - diagnosis | Muscular Dystrophy, Emery-Dreifuss - metabolism | Muscular Dystrophies, Limb-Girdle - metabolism | Barth Syndrome - genetics | Neuromuscular Diseases - complications | Myopathies, Structural, Congenital - pathology | Cardiomyopathies - complications | Myopathies, Structural, Congenital - diagnosis | Muscular Dystrophy, Duchenne - metabolism | Myopathies, Structural, Congenital - metabolism | Muscular Dystrophy, Duchenne - diagnosis | Index Medicus | Abridged Index Medicus
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11. Facioscapulohumeral muscular dystrophy diagnosis using hierarchical clustering algorithm and k-nearest neighbor based methodology
by Anand, Divya and Pandey, Babita and Pandey, Devendra K
International Journal of E-Health and Medical Communications, ISSN 1947-315X, 04/2017, Volume 8, Issue 2, pp. 33 - 46
The genetic diagnosis of neuromuscular disorder is an active area of research. Microarrays are used to detect the changes in genes for the accurate diagnosis.... 
Facioscapulohumeral muscular dystrophy | K-Means clustering | K-Nearest neighbor | Genetic testing | Hierarchical clustering | Microarrays | Cluster analysis | Discriminant analysis | Algorithms | Genes | Data sets | Genetics | Diagnosis | Muscular dystrophy
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12. Duchenne muscular dystrophy
by Emery, Alan E. H., author and Muntoni, Francesco (Paediatric neurologist), author and Quinlivan, Rosaline, author
2015, Fourth edition., Oxford monographs on medical genetics, ISBN 9780199681488, Volume no. 67., ix, 308 pages
diagnosis | Diagnosis, Differential | genetics | Muscular Dystrophy, Duchenne | history
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13. Full Text Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies
by Antoury, Layal and Hu, Ningyan and Balaj, Leonora and Das, Sudeshna and Georghiou, Sofia and Darras, Basil and Clark, Tim and Breakefield, Xandra O and Wheeler, Thurman M
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 3906 - 16
Urine contains extracellular RNA (exRNA) markers of urogenital cancers. However, the capacity of genetic material in urine to identify systemic diseases is... 
CELLS | TRANSCRIPTS | REPEAT | VESICLES | PRINCIPAL COMPONENT | MULTIDISCIPLINARY SCIENCES | PROSTATE-CANCER | EXPANSION | IDENTIFICATION | MYOTONIC-DYSTROPHY | MOUSE MODELS | Biomarkers - urine | Muscular Dystrophies - urine | Myotonic Dystrophy - urine | Prognosis | Alternative Splicing | Myotonic Dystrophy - diagnosis | Humans | Muscular Dystrophies - genetics | RNA, Messenger - metabolism | RNA Isoforms - metabolism | Sensitivity and Specificity | Myotonic Dystrophy - genetics | Muscular Dystrophies - diagnosis | Gene Expression | RNA Isoforms - genetics | RNA, Messenger - genetics | Mice, Transgenic | RNA, Messenger - urine | Mice, Knockout | Animals | RNA Isoforms - urine | Muscular Dystrophy, Duchenne - genetics | Mutation | Muscular Dystrophy, Duchenne - urine | Muscular Dystrophy, Duchenne - diagnosis | Urine | Alternative splicing | Systemic diseases | Antisense oligonucleotides | Urinary tract | Regression analysis | Disease control | Muscular dystrophy | Polymerase chain reaction | Myotonic dystrophy | Ribonucleic acids | Duchenne's muscular dystrophy | Biomarkers | Bioindicators | Dystrophy | Predictive control | Index Medicus
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