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1. 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
Introduction : The manner in which imaging patterns change over the disease course and with increasing disability in dysferlinopathy is not fully understood.... 
heatmap | random forest | machine learning | dysferlin | disability | muscle imaging | MIYOSHI-MYOPATHY | MRI | PHENOTYPES | NEUROSCIENCES | CLINICAL NEUROLOGY | GENE | HETEROGENEOUS CHARACTERISTICS | Medicine, Experimental | Medical research | Forests and forestry | Diagnostic imaging | Epidemiology | Machine learning | Muscles | Forests | Infiltration | Medical imaging | Magnetic resonance imaging | Thigh
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2. 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
Introduction: The aim of this study was to delineate the spectrum of muscle involvement in patients with a myopathy due to mutations in SEPN1 (SEPN1‐RM).... 
magnetic resonance imaging | genetics | MRI | myopathy | heatmap analysis | pediatrics | Pediatrics | Genetics | Heatmap analysis | Magnetic resonance imaging | Myopathy | CONGENITAL MUSCULAR-DYSTROPHY | CENTRONUCLEAR MYOPATHY | INVOLVEMENT | PHENOTYPE | BETHLEM MYOPATHY | NEUROSCIENCES | DEFICIENCY | CLINICAL NEUROLOGY | SELENOPROTEIN-N GENE | RIGID SPINE SYNDROME | MUTATIONS | 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
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3. 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
Introduction: We sought to define the whole-body MRI (WB-MRI) fingerprint of muscle involvement in pediatric LMNA-related dystrophy (LMNA-RD) and to compare it... 
SEPN1 | whole‐body MRI | LMNA | child | laminopathy | pattern recognition | Pattern recognition | Laminopathy | Child | Whole-body MRI | whole-body MRI | GENE-MUTATIONS | LMNA GENE | DIAGNOSIS | INVOLVEMENT | CONGENITAL MUSCULAR-DYSTROPHIES | NEUROSCIENCES | CLINICAL NEUROLOGY | PATTERN | A/C | MUSCLE DISEASES | COHORT | SKELETAL | 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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4. 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
Introduction : Particular fibroadipose infiltration patterns have been recently described by muscle imaging in congenital and later onset forms of LMNA... 
machine learning, magnetic resonance | biomarker | imaging | LMNA | laminopathy | LMNA, machine learning, magnetic resonance | LMNA GENE | INVOLVEMENT | DREIFUSS MUSCULAR-DYSTROPHY | MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | Medicine, Experimental | Medical research | Diagnostic imaging | Genetic disorders | Machine learning | Maps | Medical imaging | Magnetic resonance imaging | Biomarkers | Muscles | Infiltration | Bioindicators
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5. 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
SH3 and cysteine‐rich domain‐containing protein 3 (STAC3) is an essential component of the skeletal muscle excitation–contraction coupling (ECC) machinery,... 
STAC3 | malignant hyperthermia | excitation–contraction coupling | congenital myopathy | LOCALIZATION | DOMAIN | DIHYDROPYRIDINE RECEPTOR | MUSCLE | SARCOPLASMIC-RETICULUM | RELEASE | II-III LOOP | GENETICS & HEREDITY | PROTEINS | excitation-contraction coupling | EXPRESSION | SH3 | 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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6. 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
Introduction: MYH7 gene mutations are related to a heterogeneous group of skeletal and cardiac myopathies. Methods : We evaluated clinical and muscle MRI... 
rigid spine | heatmap | SEPN1 | LMNA | foot drop | muscle imaging | MYH7 | HEAVY-CHAIN GENE | MYH7 GENE | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | HYPERTROPHIC CARDIOMYOPATHY | PATTERN | MUTATION | LAING DISTAL MYOPATHY | BODY MUSCLE MRI | SPECTRUM | Medicine, Experimental | Medical research | Diagnostic imaging | Gene mutations | Collagen | Phenotypes | Medical imaging | Cardiac muscle | Muscles | Patients | Skeletal muscle | Atrophy | Missense mutation | Magnetic resonance imaging | Biopsy | MYH7 gene | Mosaicism | Infiltration | Children | Mutation | Myopathy
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7. Full Text The Value of Respiratory Muscle Testing in Children With Neuromuscular Disease
by Fauroux, Brigitte, MD, PhD and Quijano-Roy, Susana, MD, PhD and Desguerre, Isabelle, MD, PhD and Khirani, Sonia, PhD
Chest, ISSN 0012-3692, 2015, Volume 147, Issue 2, pp. 552 - 559
Routine lung function and respiratory muscle testing are recommended in children with neuromuscular disease (NMD), but these tests are based on noninvasive... 
Pulmonary/Respiratory | NASAL INSPIRATORY PRESSURE | CHEST-WALL | SPINAL MUSCULAR-ATROPHY | RESPIRATORY SYSTEM | NOCTURNAL HYPOVENTILATION | AIRWAY PRESSURES | LUNG-FUNCTION | MECHANICAL VENTILATION | PULMONARY-FUNCTION | TENSION-TIME INDEX | DIAPHRAGMATIC WEAKNESS | CRITICAL CARE MEDICINE | Sleep Apnea Syndromes - physiopathology | Humans | Respiratory Muscles - physiopathology | Plethysmography - methods | Sleep Apnea Syndromes - complications | Neuromuscular Diseases - physiopathology | Neuromuscular Diseases - therapy | Noninvasive Ventilation | Muscular Dystrophy, Duchenne - physiopathology | Neuromuscular Diseases - complications | Respiratory Function Tests | Muscle Strength | Sleep Apnea Syndromes - therapy | Neuromuscular diseases | Usage | Respiratory muscles | Medical tests | Children | Research | Health aspects | Risk factors
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8. Full Text CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings
by Carrera‐García, Laura and Natera‐de Benito, Daniel and Dieterich, Klaus and Banda, Marta G. G and Felter, Adrien and Inarejos, Emili and Codina, Anna and Jou, Cristina and Roldan, Monica and Palau, Francesc and Hoenicka, Janet and Pijuan, Jordi and Ortez, Carlos and Expósito‐Escudero, Jessica and Durand, Chantal and Nugues, Frédérique and Jimenez‐Mallebrera, Cecilia and Colomer, Jaume and Carlier, Robert Y and Lochmüller, Hanns and Quijano‐Roy, Susana and Nascimento, Andres
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2019, Volume 179, Issue 6, pp. 915 - 926
Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS). Herein we present a long‐term follow‐up of seven patients with CHRNG... 
arthrogryposis | multiple pterygium syndrome | CHRNG | whole‐body MRI | Escobar syndrome | whole-body MRI | ETIOLOGY | MRI | CONGENITAL CONTRACTURES | GENETICS & HEREDITY | RECEPTOR GAMMA-SUBUNIT | PREVALENCE | MUTATIONS | Medicine, Experimental | Genetic research | Medical research | Diagnostic imaging | Genetic disorders | Muscles | Phenotypes | Arthrogryposis | Mutation | Magnetic resonance imaging | Biopsy
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9. Full Text C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy
by Carmignac, Virginie and Salih, Mustafa A. M and Quijano‐Roy, Susana and Marchand, Sylvie and Al Rayess, Molham M and Mukhtar, Maowia M and Urtizberea, Jon A and Labeit, Siegfried and Guicheney, Pascale and Leturcq, France and Gautel, Mathias and Fardeau, Michel and Campbell, Kevin P and Richard, Isabelle and Estournet, Brigitte and Ferreiro, Ana
Annals of Neurology, ISSN 0364-5134, 04/2007, Volume 61, Issue 4, pp. 340 - 351
Objective: The giant protein titin is essential for striated muscle development, structure, and elasticity. All titin mutations reported to date cause... 
MULTI-MINICORE DISEASE | SKELETAL-MUSCLE | CONGENITAL MUSCULAR-DYSTROPHY | HYPERTROPHIC CARDIOMYOPATHY | PROTEIN | GENE | DILATED CARDIOMYOPATHY | MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | CENTRAL CORE DISEASE | KINASE DOMAIN | Protein Kinases - genetics | Calpain - metabolism | Connectin | Exons | Humans | Molecular Sequence Data | Protein Kinases - chemistry | Family Health | Male | Muscles - pathology | Chromosomes, Human, Pair 2 | Cardiomyopathies - genetics | Cardiomyopathies - mortality | DNA Mutational Analysis | Gene Deletion | Muscle Proteins - metabolism | Adult | Child | Genetic Linkage | Muscles - ultrastructure | Cardiomyopathies - pathology | Genotype | Protein Structure, Tertiary - genetics | Muscle Proteins - genetics | Phenotype | Cardiomyopathies - metabolism | Adolescent | Age of Onset | Muscle Proteins - chemistry
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10. Full Text Emery–Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies
by Bonne, Gisèle and Quijano-Roy, Susana
2013, ISBN 0444595651, Volume 113
The , more frequently known as are a rapidly expanding group of human hereditary diseases caused by mutations of genes that encode proteins of the nuclear... 
Muscular Dystrophy, Emery-Dreifuss - genetics | Nuclear Envelope - genetics | Muscular Diseases - metabolism | Humans | Lamins - genetics | Muscular Diseases - diagnosis | Nuclear Envelope - metabolism | Muscular Dystrophy, Emery-Dreifuss - metabolism | Muscular Dystrophy, Emery-Dreifuss - diagnosis | Lamins - metabolism | Muscular Diseases - genetics | Mutation | Nuclear Envelope - pathology | Child
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11. Full Text Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity
by Tordjman, Mickael and Dabaj, Ivana and Laforet, Pascal and Felter, Adrien and Ferreiro, Ana and Biyoukar, Moustafa and Law-Ye, Bruno and Zanoteli, Edmar and Castiglioni, Claudia and Rendu, John and Beroud, Christophe and Chamouni, Alexandre and Richard, Pascale and Mompoint, Dominique and Quijano-Roy, Susana and Carlier, Robert-Yves
European Radiology, ISSN 0938-7994, 12/2018, Volume 28, Issue 12, pp. 5293 - 5303
Inherited myopathies are major causes of muscle atrophy and are often characterized by rigid spine syndrome, a clinical feature designating patients with early... 
Medicine & Public Health | Diagnostic Radiology | Muscular diseases | Whole body imaging | Myopathies, structural, congenital | Spinal curvatures | Internal Medicine | Muscular dystrophies | Interventional Radiology | Imaging / Radiology | Ultrasound | Neuroradiology | CENTRONUCLEAR MYOPATHY | INVOLVEMENT | Myopathies | congenital | CONGENITAL MYOPATHIES | LAMINOPATHIES | SELENOPROTEIN-N GENE | structural | DYSTROPHY | DISEASE | BODY MUSCLE MRI | MUTATIONS | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | COMMON-CAUSE | Humans | Middle Aged | Child, Preschool | Magnetic Resonance Imaging - methods | Male | Young Adult | Scoliosis - physiopathology | Muscle Rigidity - etiology | Adult | Female | Muscular Dystrophies - diagnosis | Retrospective Studies | Whole Body Imaging - methods | Child | Severity of Illness Index | Diagnosis, Differential | Mallory Bodies - pathology | Muscle Rigidity - diagnosis | Algorithms | Muscle, Skeletal - physiopathology | Adolescent | Aged | Muscle Rigidity - physiopathology | Muscle, Skeletal - pathology | Muscular Dystrophies - physiopathology | Scoliosis - diagnosis | Nuclear magnetic resonance--NMR | Medical imaging | Spine | Muscles | Ryanodine receptors | Rigidity | Patients | Genetic screening | Atrophy | Magnetic resonance imaging | Collagen | Resonance | Diagnostic systems | Diagnosis | Mutation | Myopathy
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12. Full Text Management of congenital muscular dystrophies related to defects in the LMNA gene
by Quijano-Roy, Susana and D'Amico, Adele
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2015, Volume 10, Issue Suppl 2, p. O24
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13. 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
There is a great clinical and genetic heterogeneity in congenital myopathies. Myo-MRI with pattern recognition has become a first-line complementary tool in... 
DISEASE | PATTERNS | PEDIATRICS | BODY MUSCLE MRI | MUTATIONS | COMPUTED-TOMOGRAPHY | CLINICAL NEUROLOGY | Development and progression | Genetic disorders | Algorithms | Medical imaging equipment
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14. Full Text Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
by Schartner, Vanessa and Romero, Norma B and Donkervoort, Sandra and Treves, Susan and Munot, Pinki and Pierson, Tyler Mark and Dabaj, Ivana and Malfatti, Edoardo and Zaharieva, Irina T and Zorzato, Francesco and Abath Neto, Osorio and Brochier, Guy and Lornage, Xavière and Eymard, Bruno and Taratuto, Ana Lía and Böhm, Johann and Gonorazky, Hernan and Ramos-Platt, Leigh and Feng, Lucy and Phadke, Rahul and Bharucha-Goebel, Diana X and Sumner, Charlotte Jane and Bui, Mai Thao and Lacene, Emmanuelle and Beuvin, Maud and Labasse, Clémence and Dondaine, Nicolas and Schneider, Raphael and Thompson, Julie and Boland, Anne and Deleuze, Jean-François and Matthews, Emma and Pakleza, Aleksandra Nadaj and Sewry, Caroline A and Biancalana, Valérie and Quijano-Roy, Susana and Muntoni, Francesco and Fardeau, Michel and Bönnemann, Carsten G and Laporte, Jocelyn
Acta Neuropathologica, ISSN 0001-6322, 4/2017, Volume 133, Issue 4, pp. 517 - 533
Muscle contraction upon nerve stimulation relies on excitation–contraction coupling (ECC) to promote the rapid and generalized release of calcium within... 
Pathology | Neurosciences | Medicine & Public Health | Excitation–contraction coupling | DHPR | Core myopathy | Congenital myopathy | Myotubular myopathy | Centronuclear myopathy | Triad | MUSCULAR DYSGENESIS MDG | INTRACELLULAR CALCIUM HOMEOSTASIS | II-III-LOOP | PATHOLOGY | RELEASE CHANNEL | NEUROSCIENCES | CLINICAL NEUROLOGY | SKELETAL-MUSCLE | Excitation-contraction coupling | GENE | HYPOKALEMIC PERIODIC PARALYSIS | MUTATIONS | SUBUNIT | Calcium Channels - metabolism | Calcium - metabolism | Humans | Middle Aged | Male | Muscle, Skeletal - metabolism | Myotonia Congenita - metabolism | Young Adult | Adult | Female | Myotonia Congenita - genetics | Calcium Channels - genetics | Child | Muscle Cells - pathology | Cells, Cultured | Muscle Cells - metabolism | Myotonia Congenita - pathology | Sequence Homology, Amino Acid | Phenotype | Muscle, Skeletal - diagnostic imaging | Adolescent | Myotonia Congenita - diagnostic imaging | Family | Muscle, Skeletal - pathology | Mutation | Cohort Studies | Muscles | Genetic disorders
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15. Full Text Muscle Imaging in Congenital Myopathies
by Quijano-Roy, Susana, MD, PhD and Carlier, Robert Y., MD, PhD and Fischer, Dirk, MD
Seminars in Pediatric Neurology, ISSN 1071-9091, 2011, Volume 18, Issue 4, pp. 221 - 229
Congenital myopathies are a genetically heterogeneous group of early-onset myopathies classified according to the predominant histopathological findings in... 
Pediatrics | Neurology | NEMALINE MYOPATHY | DISTAL MYOPATHY | NEBULIN GENE | MRI | DISEASE | INVOLVEMENT | MUSCULAR-DYSTROPHY | PHENOTYPE | PEDIATRICS | MUTATIONS | RECESSIVE CENTRONUCLEAR MYOPATHY | CLINICAL NEUROLOGY | Diagnosis, Differential | Selenoproteins - genetics | Humans | Dynamin II - genetics | Myopathies, Structural, Congenital - genetics | Tomography, X-Ray Computed | Nerve Tissue Proteins - genetics | Muscle Proteins - genetics | Magnetic Resonance Imaging | Ryanodine Receptor Calcium Release Channel - genetics | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Myopathies, Structural, Congenital - pathology | Myopathies, Structural, Congenital - diagnosis | Mutation | Genetic disorders
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