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1. Full Text Congenital myopathies: Natural history of a large pediatric cohort
by Colombo, Irene and Scoto, Mariacristina and Manzur, Adnan Y and Robb, Stephanie A and Maggi, Lorenzo and Gowda, Vasantha and Cullup, Thomas and Yau, Michael and Phadke, Rahul and Sewry, Caroline and Jungbluth, Heinz and Muntoni, Francesco
Neurology, ISSN 0028-3878, 01/2015, Volume 84, Issue 1, pp. 28 - 35
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Myopathies, Nemaline - genetics | Humans | Middle Aged | Child, Preschool | Respiratory Insufficiency - etiology | Infant | Male | Myopathies, Structural, Congenital - genetics | Myopathies, Structural, Congenital - complications | Myopathies, Nemaline - pathology | Young Adult | Mobility Limitation | Adult | Deglutition Disorders - etiology | Female | Retrospective Studies | Child | Myopathy, Central Core - genetics | Infant, Newborn | Cross-Sectional Studies | Scoliosis - etiology | Muscle Proteins - genetics | Myopathies, Nemaline - complications | Myopathy, Central Core - pathology | Adolescent | Myopathies, Structural, Congenital - pathology | Myopathy, Central Core - complications | Consanguinity | Muscle, Skeletal - pathology | Cohort Studies | Index Medicus | Abridged Index Medicus | 176 | 185 | 227
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2. Full Text Congenital myopathies: Disorders of excitation-contraction coupling and muscle contraction
by Jungbluth, Heinz and Treves, Susan and Zorzato, Francesco and Sarkozy, Anna and Ochala, Julien and Sewry, Caroline and Phadke, Rahul and Gautel, Mathias and Muntoni, Francesco
Nature reviews. Neurology, ISSN 1759-4758, 03/2018, Volume 14, Issue 3, pp. 151 - 167
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Excitation Contraction Coupling - physiology | Myopathies, Structural, Congenital - physiopathology | Humans | Muscle Contraction - physiology | Myopathies, Structural, Congenital - therapy | Myopathies, Structural, Congenital - pathology | Myopathies, Structural, Congenital - genetics | Care and treatment | Muscle diseases | Genetic aspects | Research | Gene mutations | Congenital diseases | Mutation | Index Medicus
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3. Full Text Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores
by Majczenko, Karen and Davidson, Ann E and Camelo-Piragua, Sandra and Agrawal, Pankaj B and Manfready, Richard A and Li, Xingli and Joshi, Sucheta and Xu, Jishu and Peng, Weiping and Beggs, Alan H and Li, Jun Z and Burmeister, Margit and Dowling, James J
American journal of human genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 365 - 371
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Morpholinos - genetics | Humans | Computational Biology | Microtubule-Associated Proteins | Molecular Sequence Data | Myopathies, Structural, Congenital - genetics | Zebrafish | Mutation - genetics | Open Reading Frames - genetics | Reverse Transcriptase Polymerase Chain Reaction | Sequence Analysis, DNA | Blotting, Western | Muscle Proteins - genetics | Animals | Pedigree | Base Sequence | RNA Splicing - genetics | Myopathies, Structural, Congenital - pathology | Models, Genetic | Genes, Dominant - genetics | Chromosomes, Human, Pair 16 - genetics | Genetic Linkage | Gene mutations | Causes of | Muscle diseases | Genetic aspects | Research | Genetic transcription | RNA processing | Proteins | Genetic disorders | Mutation | Gene expression | Biopsy | Index Medicus | Ultrastructure | Insertion | Children | Nuclei | Skeletal muscle | Linkage analysis | Myopathy | Report
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4. Full Text Centronuclear (myotubular) myopathy
by Jungbluth, Heinz and Wallgren-Pettersson, Carina and Laporte, Jocelyn
Orphanet journal of rare diseases, ISSN 1750-1172, 2008, Volume 3, Issue 1, pp. 26 - 26
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Myopathies, Structural, Congenital - epidemiology | Genetic Diseases, X-Linked - epidemiology | Chromosomes, Human, X - genetics | Genes, Recessive - genetics | Humans | Middle Aged | Infant | Male | Myopathies, Structural, Congenital - genetics | Genetic Diseases, X-Linked - diagnosis | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Myopathies, Structural, Congenital - pathology | Genetic Diseases, X-Linked - pathology | Genetic Diseases, X-Linked - genetics | Myopathies, Structural, Congenital - diagnosis | Muscle, Skeletal - pathology | Neuromuscular diseases | Care and treatment | Prognosis | Gene mutations | Physiological aspects | Development and progression | Genetic aspects | Research | Index Medicus | Quantitative Methods | Protein Tyrosine Phosphatases, Non-Receptor | Genes, Recessive | Chromosomes, Human, X | Life Sciences | Myopathies, Structural, Congenital | Computer Science | Muscle, Skeletal | Genetic Diseases, X-Linked | Bioinformatics
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5. Full Text The genetics of congenital myopathies
by Gonorazky, Hernan D and Bönnemann, Carsten G and Dowling, James J
2018, ISBN 9780444640765, Volume 148
mutation | centronuclear | genetics | structural | central core | animal | model | congenital | myopathies | human | nemaline | Muscle Proteins - genetics | Myopathies, Structural, Congenital - genetics | Phenotype | Mutation - genetics | Humans | Index Medicus
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6. Full Text Congenital fibre type disproportion associated with mutations in the tropomyosin 3 ( TPM3 ) gene mimicking congenital myasthenia
by Munot, P and Lashley, D and Jungbluth, H and Feng, L and Pitt, M and Robb, S.A and Palace, J and Jayawant, S and Kennet, R and Beeson, D and Cullup, T and Abbs, S and Laing, N and Sewry, C and Muntoni, F
Neuromuscular disorders : NMD, ISSN 0960-8966, 2010, Volume 20, Issue 12, pp. 796 - 800
Neurology | Congenital myopathy | Tropomyosin 3 (TPM 3) | Congenital fibre type disproportion (CFTD) | Congenital myasthenia | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Myasthenic Syndromes, Congenital - genetics | Tropomyosin - genetics | Diagnosis, Differential | Humans | Male | Myopathies, Structural, Congenital - genetics | Young Adult | Myasthenic Syndromes, Congenital - pathology | Myopathies, Structural, Congenital - pathology | Female | Muscle, Skeletal - pathology | Mutation | Child | Genetic research | Genetic aspects | Genetic disorders | Muscle proteins | Index Medicus | Exons | Tropomyosin | Electrophysiology | Muscles | Ryanodine receptors | Feeding | Mimicry | neuromuscular system | Missense mutation | Magnetic resonance imaging | Biopsy | Scoliosis | Neuromuscular junctions | Ventilation | Myasthenia | EMG | Myopathy
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7. Full Text Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
by Zaharieva, I.T and Thor, M.G and Oates, E.C and Karnebeek, C. van and Hendson, G and Blom, E and Witting, N and Rasmussen, M and Gabbett, M.T and Ravenscroft, G and Sframeli, M and Suetterlin, K and Sarkozy, A and D'Argenzio, L and Hartley, L and Matthews, E and Pitt, M and Vissing, J and Ballegaard, M and Krarup, C and Slordahl, A and Halvorsen, H and Ye, X.C and Zhang, L.H and Lokken, N and Werlauff, U and Abdelsayed, M and Davis, M.R and Feng, L and Phadke, R and Sewry, C.A and Morgan, J.E and Laing, N.G and Vallance, H and Ruben, P and Hanna, M.G and Lewis, S and Kamsteeg, E.J and Mannikko, R and Muntoni, F
Brain (London, England : 1878), ISSN 0006-8950, 2016, Volume 139, Issue 3, pp. 674 - 691
Foetal akinesia | Loss-of-function mutation | Congenital myopathy | Foetal hypokinesia | SCN4A | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Severity of Illness Index | NAV1.4 Voltage-Gated Sodium Channel - genetics | Humans | Xenopus laevis | Child, Preschool | Male | Myopathies, Structural, Congenital - genetics | Mutation - genetics | Animals | Pedigree | Hypokinesia - diagnosis | Adolescent | HEK293 Cells | Hypokinesia - genetics | Adult | Female | Myopathies, Structural, Congenital - diagnosis | Child | Infant, Newborn | Index Medicus | Abridged Index Medicus | loss-of-function mutation | foetal hypokinesia | Original | foetal akinesia | congenital myopathy
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8. Full Text Congenital myopathies: an update
by Claeys, Kristl G
Developmental medicine and child neurology, ISSN 0012-1622, 03/2020, Volume 62, Issue 3, pp. 297 - 302
Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Muscle, Skeletal - diagnostic imaging | Myopathies, Structural, Congenital - pathology | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - genetics | High-Throughput Nucleotide Sequencing | Muscle, Skeletal - pathology | Mutation | Myopathies, Structural, Congenital - diagnostic imaging | Index Medicus
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