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1. Full Text Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement
by Kang, Peter B and McMillan, Hugh J and Kuntz, Nancy L and Lehky, Tanya J and Alter, Katharine E and Fitzpatrick, Kevin F and El Kosseifi, Charbel and Quijano‐Roy, Susana and Amer Assoc Neuromuscular Electrodi and Professional Practice Committee of the American Association of Neuromuscular & Electrodiagnostic Medicine and The Professional Practice Committee of the American Association of Neuromuscular & Electrodiagnostic Medicine
Muscle & nerve, ISSN 0148-639X, 02/2020, Volume 61, Issue 2, pp. 143 - 155
infants | adolescents | children | electromyography | neuromuscular disorders | electrodiagnostic medicine | pediatric | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Electric Stimulation | Humans | Evoked Potentials | Child, Preschool | Infant | Mononeuropathies - therapy | Reference Values | Mononeuropathies - diagnosis | Electrodiagnosis - methods | Consensus | Neuromuscular Diseases - therapy | Young Adult | Informed Consent | Patient Comfort | Electrodiagnosis - standards | Pediatrics - methods | Adolescent | Adult | Electromyography | Pediatrics - standards | Neuromuscular Diseases - diagnosis | Child | Infant, Newborn | Literature reviews | Nerve conduction | Pediatrics | Population studies | Infants | Diagnostic systems | Children | Neuromuscular system | Ultrasound | EMG | Index Medicus
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2. Full Text Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen
by Gómez‐García de la Banda, Marta and Amaddeo, Alessandro and Khirani, Sonia and Pruvost, Sandrine and Barnerias, Christine and Dabaj, Ivana and Bénézit, Audrey and Durigneux, Julien and Carlier, Robert Y and Desguerre, Isabelle and Quijano‐Roy, Susana and Fauroux, Brigitte
Pediatric pulmonology, ISSN 8755-6863, 01/2021, Volume 56, Issue 1, pp. 299 - 306
nusinersen | spinal muscular atrophy | lung function | motor function | respiratory muscles | Respiratory System | Pediatrics | Life Sciences & Biomedicine | Science & Technology | Lungs | Respiration | Respiratory system | Motor ability | Age | Index Medicus
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3. Full Text Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests
by Gómez‐Andrés, David and Díaz, Jorge and Munell, Francina and Sánchez‐Montáñez, Ángel and Pulido‐Valdeolivas, Irene and Suazo, Lionel and Garrido, Cristián and Quijano‐Roy, Susana and Bevilacqua, Jorge A
Muscle & nerve, ISSN 0148-639X, 04/2019, Volume 59, Issue 4, pp. 436 - 444
heatmap | random forest | machine learning | dysferlin | disability | muscle imaging | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Medicine, Experimental | Medical research | Forests and forestry | Diagnostic imaging | Epidemiology | Machine learning | Muscles | Infiltration | Medical imaging | Magnetic resonance imaging | Thigh | Index Medicus
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4. Full Text Whole‐body muscle magnetic resonance imaging in SEPN1‐related myopathy shows a homogeneous and recognizable pattern
by Hankiewicz, Karolina and Carlier, Robert Y and Lazaro, Leila and Linzoain, Javier and Barnerias, Christine and Gómez‐Andrés, David and Avila‐Smirnow, Daniela and Ferreiro, Ana and Estournet, Brigitte and Guicheney, Pascale and Germain, Dominique P and Richard, Pascale and Bulacio, Sebastian and Mompoint, Dominique and Quijano‐Roy, Susana
Muscle & nerve, ISSN 0148-639X, 11/2015, Volume 52, Issue 5, pp. 728 - 735
magnetic resonance imaging | genetics | MRI | myopathy | heatmap analysis | pediatrics | Pediatrics | Genetics | Heatmap analysis | Magnetic resonance imaging | Myopathy | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Muscle Proteins - genetics | Muscular Diseases - diagnosis | Young Adult | Selenoproteins - genetics | Humans | Adolescent | Magnetic Resonance Imaging - methods | Female | Male | Muscular Diseases - genetics | Whole Body Imaging - methods | Child | Weightlifting | Nuclear magnetic resonance--NMR | Index Medicus
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5. Full Text Pediatric laminopathies: Whole‐body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy
by Gómez‐Andrés, David and Dabaj, Ivana and Mompoint, Dominique and Hankiewicz, Karolina and Azzi, Viviane and Ioos, Christine and Romero, Norma B and Yaou, Rabah and Bergounioux, Jean and Bonne, Giséle and Richard, Pascale and Estournet, Brigitte and Yves‐Carlier, Robert and Quijano‐Roy, Susana
Muscle & nerve, ISSN 0148-639X, 08/2016, Volume 54, Issue 2, pp. 192 - 202
SEPN1 | whole‐body MRI | LMNA | child | laminopathy | pattern recognition | Pattern recognition | Laminopathy | Child | Whole-body MRI | whole-body MRI | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Selenoproteins - genetics | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Male | Muscle Proteins - genetics | Adolescent | Lamin Type A - genetics | Female | Retrospective Studies | Muscular Diseases - genetics | Whole Body Imaging - methods | Muscular Diseases - diagnostic imaging | Magnetic resonance imaging | Pediatrics | Machine learning | Shoulder | Nuclear magnetic resonance--NMR | Index Medicus
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6. Full Text STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
by Zaharieva, Irina T and Sarkozy, Anna and Munot, Pinki and Manzur, Adnan and O'Grady, Gina and Rendu, John and Malfatti, Eduardo and Amthor, Helge and Servais, Laurent and Urtizberea, J. Andoni and Neto, Osorio Abath and Zanoteli, Edmar and Donkervoort, Sandra and Taylor, Juliet and Dixon, Joanne and Poke, Gemma and Foley, A. Reghan and Holmes, Chris and Williams, Glyn and Holder, Muriel and Yum, Sabrina and Medne, Livija and Quijano‐Roy, Susana and Romero, Norma B and Fauré, Julien and Feng, Lucy and Bastaki, Laila and Davis, Mark R and Phadke, Rahul and Sewry, Caroline A and Bönnemann, Carsten G and Jungbluth, Heinz and Bachmann, Christoph and Treves, Susan and Muntoni, Francesco
Human mutation, ISSN 1059-7794, 12/2018, Volume 39, Issue 12, pp. 1980 - 1994
STAC3 | malignant hyperthermia | excitation–contraction coupling | congenital myopathy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Malignant hyperthermia | Genetic disorders | Sarcolemma | Phenotypes | Immunoprecipitation | Calcium channels (voltage-gated) | Muscle contraction | Potassium chloride | Minority & ethnic groups | Contraction | Skeletal muscle | Depolarization | Sarcoplasmic reticulum | Membrane potential | Hyperthermia | Calcium (reticular) | Myopathy
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7. Full Text Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement
by Dabaj, Ivana and Carlier, Robert Y and Gómez‐Andrés, David and Neto, Osório Abath and Bertini, Enrico and D'amico, Adele and Fattori, Fabiana and PéRéon, Yann and Castiglioni, Claudia and Rodillo, Eliana and Catteruccia, Michela and Guimarães, júlio Brandão and Oliveira, Acary Souza Bulle and Reed, Umbertina Conti and Mesrob, Lilia and Lechner, Doris and Boland, Anne and Deleuze, Jean‐François and Malfatti, Edoardo and Bonnemann, Carsten and Laporte, Jocelyn and Romero, Norma and Felter, Adrien and Quijano‐Roy, Susana and Moreno, Cristiane Araújo Martins and Zanoteli, Edmar
Muscle & nerve, ISSN 0148-639X, 08/2018, Volume 58, Issue 2, pp. 224 - 234
rigid spine | heatmap | SEPN1 | LMNA | foot drop | muscle imaging | MYH7 | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Medicine, Experimental | Medical research | Diagnostic imaging | Gene mutations | Collagen | Phenotypes | Medical imaging | Muscles | Patients | Skeletal muscle | Atrophy | Missense mutation | Magnetic resonance imaging | Biopsy | MYH7 gene | Mosaicism | Infiltration | Children | Mutation | Myopathy | Index Medicus
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8. Full Text Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow‐up
by GóMez‐Andrés, David and Díaz‐Manera, Jordi and Alejaldre, Aida and Pulido‐Valdeolivas, Irene and GonzáLez‐mera, Laura and Olivé, Montse and Vilchez, Juan José and De Munain, Adolfo LóPez and Paradas, Carmen and Muelas, Nuria and SáNchez‐MontáÑez, Ángel and Alonso‐Jimenez, Alicia and De la banda, Marta Gómez García and Dabaj, Ivana and Bonne, Gisèle and Munell, Francina and Carlier, Robert Y and Quijano‐Roy, Susana
Muscle & nerve, ISSN 0148-639X, 12/2018, Volume 58, Issue 6, pp. 812 - 817
biomarker | LMNA, machine learning, magnetic resonance | imaging | laminopathy | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Disease Progression | Young Adult | Magnetic Resonance Imaging | Extremities - diagnostic imaging | Muscle, Skeletal - diagnostic imaging | Adolescent | Statistics, Nonparametric | Adult | Female | Aged | Child | Muscular Atrophy, Spinal - diagnostic imaging | Cohort Studies | Medicine, Experimental | Medical research | Diagnostic imaging | Genetic disorders | Machine learning | Biomarkers | Muscles | Infiltration | Maps | Medical imaging | Magnetic resonance imaging | Index Medicus
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9. Full Text De novo LMNA mutations cause a new form of congenital muscular dystrophy
by Quijano‐Roy, Susana and Mbieleu, Blaise and Bönnemann, Carsten G and Jeannet, Pierre‐Yves and Colomer, Jaume and Clarke, Nigel F and Cuisset, Jean‐Marie and Roper, Helen and De Meirleir, Linda and D'Amico, Adele and Ben Yaou, Rabah and Nascimento, Andrés and Barois, Annie and Demay, Laurence and Bertini, Enrico and Ferreiro, Ana and Sewry, Caroline A and Romero, Norma B and Ryan, Monique and Muntoni, Francesco and Guicheney, Pascale and Richard, Pascale and Bonne, Gisèle and Estournet, Brigitte
Annals of neurology, ISSN 0364-5134, 08/2008, Volume 64, Issue 2, pp. 177 - 186
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Muscular Dystrophies, Limb-Girdle - genetics | Genetic Markers - genetics | Humans | Lamin Type A - genetics | Child, Preschool | Adult | Female | Male | Muscular Dystrophies, Limb-Girdle - pathology | Mutation - genetics | Child | Index Medicus
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10. Full Text Myoimaging in Congenital Myopathies
by Carlier, Robert-Yves and Quijano-Roy, Susana
Seminars in pediatric neurology, ISSN 1071-9091, 04/2019, Volume 29, pp. 30 - 43
Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Magnetic Resonance Imaging | Myopathies, Structural, Congenital - diagnostic imaging | Humans | Muscle, Skeletal - diagnostic imaging | Disease Progression | Development and progression | Genetic disorders | Algorithms | Medical imaging equipment | Index Medicus
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