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1. Full Text Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
by Lalani, Seema R and Liu, Pengfei and Rosenfeld, Jill A and Watkin, Levi B and Chiang, Theodore and Leduc, Magalie S and Zhu, Wenmiao and Ding, Yan and Pan, Shujuan and Vetrini, Francesco and Miyake, Christina Y and Shinawi, Marwan and Gambin, Tomasz and Eldomery, Mohammad K and Akdemir, Zeynep Hande Coban and Emrick, Lisa and Wilnai, Yael and Schelley, Susan and Koenig, Mary Kay and Memon, Nada and Farach, Laura S and Coe, Bradley P and Azamian, Mahshid and Hernandez, Patricia and Zapata, Gladys and Jhangiani, Shalini N and Muzny, Donna M and Lotze, Timothy and Clark, Gary and Wilfong, Angus and Northrup, Hope and Adesina, Adekunle and Bacino, Carlos A and Scaglia, Fernando and Bonnen, Penelope E and Crosson, Jane and Duis, Jessica and Maegawa, Gustavo H.B and Coman, David and Inwood, Anita and McGill, Jim and Boerwinkle, Eric and Graham, Brett and Beaudet, Art and Eng, Christine M and Hanchard, Neil A and Xia, Fan and Orange, Jordan S and Gibbs, Richard A and Lupski, James R and Yang, Yaping
American journal of human genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, pp. 347 - 357
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exons | Muscle Weakness - diagnosis | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Endoplasmic Reticulum Stress - genetics | Muscle Weakness - genetics | Exome | Rhabdomyolysis - diagnosis | Base Sequence | Gene Deletion | Female | Child | Arrhythmias, Cardiac - genetics | European Continental Ancestry Group - genetics | Hispanic Americans - genetics | Homozygote | Pedigree | Rhabdomyolysis - genetics | Alleles | Arabs - genetics | Golgi Apparatus - metabolism | Arrhythmias, Cardiac - diagnosis | Golgi Apparatus - genetics | Genetic aspects | Rhabdomyolysis | Arrhythmia | Gene mutations | Observations | Atrophy, Muscular | Musculoskeletal diseases | Genetics | Muscular system | Mutation | Index Medicus | Report
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2. Full Text Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
by Fugier, Charlotte and Klein, Arnaud F and Hammer, Caroline and Vassilopoulos, Stéphane and Ivarsson, Ylva and Toussaint, Anne and Tosch, Valérie and Vignaud, Alban and Ferry, Arnaud and Messaddeq, Nadia and Kokunai, Yosuke and Tsuburaya, Rie and De La Grange, Pierre and Dembele, Doulaye and Francois, Virginie and Precigout, Guillaume and Boulade-Ladame, Charlotte and Hummel, Marie-Christine and De Munain, Adolfo Lopez and Sergeant, Nicolas and Laquerrière, Annie and Thibault, Christelle and Deryckere, Franãois and Auboeuf, Didier and Garcia, Luis and Zimmermann, Pascale and Udd, Bjarne and Schoser, Benedikt and Takahashi, Masanori P and Nishino, Ichizo and Bassez, Guillaume and Laporte, Jocelyn and Furling, Denis and Charlet-Berguerand, Nicolas
Nature medicine, ISSN 1078-8956, 2011, Volume 17, Issue 6, pp. 720 - 725
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Cell Line | RNA-Binding Proteins - physiology | Humans | Alternative Splicing - physiology | Exons - genetics | Muscle Weakness - genetics | Protein Isoforms - physiology | Tumor Suppressor Proteins - physiology | Adaptor Proteins, Signal Transducing - physiology | Myotonic Dystrophy - physiopathology | Animals | Tumor Suppressor Proteins - genetics | Adaptor Proteins, Signal Transducing - genetics | Myotonic Dystrophy - genetics | Mice | Nuclear Proteins - physiology | Muscle Weakness - physiopathology | Nuclear Proteins - genetics | Muscle Fibers, Skeletal - physiology | RNA-Binding Proteins - metabolism | Protein Isoforms - genetics | Muscle weakness | Myotonic dystrophy | RNA | Physiological aspects | Genetic aspects | Research | Risk factors | Musculoskeletal diseases | Musculoskeletal system | Biosynthesis | Protein synthesis | Muscular dystrophy | Index Medicus | Alternative Splicing | Exons | Myotonic Dystrophy | RNA-Binding Proteins | Nuclear Proteins | Life Sciences | Adaptor Proteins, Signal Transducing | Muscle Fibers, Skeletal | Protein Isoforms | Muscle Weakness | Tumor Suppressor Proteins | Cancer
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3. Full Text ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
by Morava, E and Tiemes, V and Thiel, C and Seta, N and Lonlay, P. de and Klerk, H. de and Mulder, M and Rubio-Gozalbo, E and Visser, G and Hasselt, P. van and Horovitz, D.D and Souza, C.F. de and Schwartz, I.V and Green, A and Al-Owain, M and Uziel, G and Sigaudy, S and Chabrol, B and Spronsen, F.J. van and Steinert, M and Komini, E and Wurm, D and Bevot, A and Ayadi, A and Huijben, K and Dercksen, M and Witters, P and Jaeken, J and Matthijs, G and Lefeber, D.J and Wevers, R.A
Journal of inherited metabolic disease, ISSN 0141-8955, 2016, Volume 39, Issue 5, pp. 713 - 723
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Limb Deformities, Congenital - genetics | Mental Disorders - pathology | Seizures - genetics | Humans | Child, Preschool | Infant | Male | Muscle Weakness - genetics | Congenital Disorders of Glycosylation - pathology | Young Adult | Mental Disorders - genetics | Seizures - pathology | Muscle Weakness - pathology | Adult | Epilepsy - genetics | Female | Retrospective Studies | Ataxia - genetics | Child | Congenital Disorders of Glycosylation - genetics | Infant, Newborn | Ataxia - pathology | Glucosyltransferases - genetics | Muscle Hypotonia - genetics | Membrane Proteins - genetics | Genetic Association Studies - methods | Glycosylation | Muscle Hypotonia - pathology | Phenotype | Adolescent | Epilepsy - pathology | Limb Deformities, Congenital - pathology | Ataxia | Muscle weakness | Genetic aspects | Epilepsy | Index Medicus
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4. Full Text Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women
by Jones, Garan and Trajanoska, Katerina and Santanasto, Adam J and Stringa, Najada and Kuo, Chia-Ling and Atkins, Janice L and Lewis, Joshua R and Duong, ThuyVy and Hong, Shengjun and Biggs, Mary L and Luan, Jian'an and Sarnowski, Chloe and Lunetta, Kathryn L and Tanaka, Toshiko and Wojczynski, Mary K and Cvejkus, Ryan and Nethander, Maria and Ghasemi, Sahar and Yang, Jingyun and Zillikens, M Carola and Walter, Stefan and Sicinski, Kamil and Kague, Erika and Ackert-Bicknell, Cheryl L and Arking, Dan E and Windham, B Gwen and Boerwinkle, Eric and Grove, Megan L and Graff, Misa and Spira, Dominik and Demuth, Ilja and van der Velde, Nathalie and de Groot, Lisette C P G M and Psaty, Bruce M and Odden, Michelle C and Fohner, Alison E and Langenberg, Claudia and Wareham, Nicholas J and Bandinelli, Stefania and van Schoor, Natasja M and Huisman, Martijn and Tan, Qihua and Zmuda, Joseph and Mellström, Dan and Karlsson, Magnus and Bennett, David A and Buchman, Aron S and De Jager, Philip L and Uitterlinden, Andre G and Völker, Uwe and Kocher, Thomas and Teumer, Alexander and Rodriguéz-Mañas, Leocadio and García, Francisco J and Carnicero, José A and Herd, Pamela and Bertram, Lars and Ohlsson, Claes and Murabito, Joanne M and Melzer, David and Kuchel, George A and Ferrucci, Luigi and Karasik, David and Rivadeneira, Fernando and Kiel, Douglas P and Pilling, Luke C and et al
Nature communications, ISSN 2041-1723, 01/2021, Volume 12, Issue 1, pp. 654 - 654
Sarcopenia - genetics | Genetic Predisposition to Disease - genetics | Muscle Strength - genetics | Europe | Humans | Middle Aged | Male | HLA-DQ alpha-Chains - genetics | Muscle Weakness - genetics | Sarcopenia - physiopathology | Growth Differentiation Factor 5 - genetics | Aging - genetics | Aged, 80 and over | Female | Aged | Polymorphism, Single Nucleotide | Muscle Weakness - physiopathology | Genome-Wide Association Study - methods | Cohort Studies | Muscle Strength - physiology | Hematology | Transcription | Mortality | Gene regulation | Diabetes mellitus | Genomes | Arthritis | Loci | Morbidity | Sarcopenia | Musculoskeletal system | Randomization | Pathways | Older people | Cell cycle | Men | Aging | Histocompatibility antigen HLA | Grip strength | Muscular strength | Autoimmune diseases | Immune system | Index Medicus | Genetic association study | Predictive markers | Genomics | Genetics research | Clinical Medicine | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Klinisk medicin | Geriatrik | Geriatrics
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5. Full Text Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency
by Sánchez-Caballero, Laura and Ruzzenente, Benedetta and Bianchi, Lucas and Assouline, Zahra and Barcia, Giulia and Metodiev, Metodi D and Rio, Marlène and Funalot, Benoît and van den Brand, Mariël A.M and Guerrero-Castillo, Sergio and Molenaar, Joery P and Koolen, David and Brandt, Ulrich and Rodenburg, Richard J and Nijtmans, Leo G and Rötig, Agnès
American journal of human genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, pp. 208 - 216
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mitochondrial Diseases - genetics | Membrane Proteins - genetics | Electron Transport Complex I - deficiency | Humans | Infant | Male | Genetic Complementation Test | Muscle Weakness - genetics | Young Adult | Exome - genetics | Exercise | Electron Transport Complex I - genetics | Adolescent | Adult | Heterozygote | Mutation | Child | Phenotype | Genetic aspects | Gene mutations | Health aspects | Atrophy, Muscular | Mitochondria | Membranes | Biochemistry | Muscular system | Index Medicus | Report
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6. Full Text Excess TGF-β mediates muscle weakness associated with bone metastases in mice
by Waning, David L and Mohammad, Khalid S and Reiken, Steven and Xie, Wenjun and Andersson, Daniel C and John, Sutha and Chiechi, Antonella and Wright, Laura E and Umanskaya, Alisa and Niewolna, Maria and Trivedi, Trupti and Charkhzarrin, Sahba and Khatiwada, Pooja and Wronska, Anetta and Haynes, Ashley and Benassi, Maria Serena and Witzmann, Frank A and Zhen, Gehua and Wang, Xiao and Cao, Xu and Roodman, G. David and Marks, Andrew R and Guise, Theresa A
Nature medicine, ISSN 1078-8956, 11/2015, Volume 21, Issue 11, pp. 1262 - 1271
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Neoplasms - metabolism | Prostatic Neoplasms - metabolism | Up-Regulation | Calcium - metabolism | Humans | Lung Neoplasms - metabolism | NADPH Oxidases - metabolism | Bone Neoplasms - secondary | Lung Neoplasms - pathology | Male | Muscle, Skeletal - metabolism | Osteolysis - etiology | Ryanodine Receptor Calcium Release Channel - metabolism | X-Ray Microtomography | Bone Neoplasms - metabolism | Breast Neoplasms - metabolism | Neoplasms - complications | MCF-7 Cells | Osteolysis - diagnostic imaging | Muscle Proteins - metabolism | NADPH Oxidases - genetics | Female | Camurati-Engelmann Syndrome - metabolism | Muscle Strength | Calcium Signaling | Disease Models, Animal | Muscle Weakness - etiology | Prostatic Neoplasms - pathology | Oxidation-Reduction | Bone Neoplasms - diagnostic imaging | NADPH Oxidase 4 | Mice, SCID | Multiple Myeloma - metabolism | Absorptiometry, Photon | Osteolysis - metabolism | Multiple Myeloma - pathology | Animals | Muscle Contraction | Breast Neoplasms - pathology | Mice, Nude | Muscle Weakness - metabolism | Cell Line, Tumor | Mice | Neoplasms - pathology | Transforming Growth Factor beta - metabolism | Index Medicus | Medicin och hälsovetenskap
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7. Full Text Peripheral muscle weakness in RASopathies
by Stevenson, David A and Allen, Shawn and Tidyman, William E and Carey, John C and Viskochil, David H and Stevens, Austin and Hanson, Heather and Sheng, Xiaoming and Thompson, Brandi A and J. Okumura, Megumi and Reinker, Kent and Johnson, Barbara and Rauen, Katherine A
Muscle & nerve, ISSN 0148-639X, 09/2012, Volume 46, Issue 3, pp. 394 - 399
muscle force | neurofibromatosis | cardiofaciocutaneous syndrome | Noonan syndrome | RASopathy | Costello syndrome | Cardiofaciocutaneous syndrome | Muscle force | Neurofibromatosis | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Vertebrates: nervous system and sense organs | Biological and medical sciences | Vertebrates: osteoarticular system, musculoskeletal system | Striated muscle. Tendons | Motor control and motor pathways. Reflexes. Control centers of vegetative functions. Vestibular system and equilibration | ras Proteins - genetics | Humans | Middle Aged | Noonan Syndrome - physiopathology | Child, Preschool | ras Proteins - metabolism | Male | Muscle, Skeletal - metabolism | Neurofibromatosis 1 - physiopathology | Muscle Weakness - genetics | Ectodermal Dysplasia - physiopathology | Heart Defects, Congenital - genetics | Ectodermal Dysplasia - metabolism | MAP Kinase Signaling System - genetics | Facies | Adult | Female | Neurofibromatosis 1 - metabolism | Neurofibromatosis 1 - genetics | Child | Failure to Thrive - physiopathology | Costello Syndrome - physiopathology | Failure to Thrive - genetics | Noonan Syndrome - genetics | Costello Syndrome - genetics | Costello Syndrome - metabolism | Muscle, Skeletal - physiopathology | Noonan Syndrome - metabolism | Adolescent | Failure to Thrive - metabolism | Muscle Weakness - metabolism | Ectodermal Dysplasia - genetics | Heart Defects, Congenital - metabolism | Heart Defects, Congenital - physiopathology | Muscle Weakness - physiopathology | Hand Strength - physiology | Analysis | Genetic disorders | Medical genetics | Index Medicus
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8. Full Text Effect of tolerating macronutrient deficit on the development of intensive-care unit acquired weakness: A subanalysis of the EPaNIC trial
by Hermans, Greet and Casaer, Michael P and Clerckx, Beatrix and Güiza, Fabian and Vanhullebusch, Tine and Derde, Sarah and Meersseman, Philippe and Derese, Inge and Mesotten, Dieter and Wouters, Pieter J and Van Cromphaut, Sophie and Debaveye, Yves and Gosselink, Rik and Gunst, Jan and Wilmer, Alexander and Van den Berghe, Greet and Vanhorebeek, Ilse
The lancet respiratory medicine, ISSN 2213-2600, 10/2013, Volume 1, Issue 8, pp. 621 - 629
Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Critical Care - methods | Proto-Oncogene Proteins c-myc - analysis | Ubiquitin - analysis | Prospective Studies | SKP Cullin F-Box Protein Ligases - genetics | Humans | Middle Aged | Myosin Heavy Chains - genetics | Male | RNA, Messenger - metabolism | Autophagy | Actins - genetics | Tripartite Motif Proteins | Atrophy | Energy Intake - physiology | Time Factors | Nonmuscle Myosin Type IIA - genetics | Parenteral Nutrition - methods | Ubiquitin-Protein Ligases - analysis | Recovery of Function - physiology | Female | Muscle Fibers, Skeletal - physiology | Length of Stay | Microtubule-Associated Proteins - analysis | Cardiac Myosins - genetics | Muscle Proteins - genetics | Muscle Fibers, Skeletal - chemistry | Muscle, Skeletal - physiopathology | Muscle Fibers, Skeletal - pathology | Aged | Muscle Weakness - physiopathology | Muscle, Skeletal - pathology | Ubiquitin-Protein Ligases - genetics | Parenteral feeding | Parenteral therapy | Muscle weakness | Analysis | Risk factors | Index Medicus
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9. Full Text Progressive motor weakness in transgenic mice expressing human TDP-43
by Stallings, Nancy R and Puttaparthi, Krishna and Luther, Christina M and Burns, Dennis K and Elliott, Jeffrey L
Neurobiology of disease, ISSN 0969-9961, 2010, Volume 40, Issue 2, pp. 404 - 414
Neurology | ALS | Motor neuron | Inclusions | Neurodegeneration | TDP-43 | Myopathy | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | TDP-43 Proteinopathies - metabolism | Mice, Transgenic | Mutation, Missense | DNA-Binding Proteins - genetics | Mice, Inbred Strains | Muscle Weakness - genetics | Blotting, Western | DNA-Binding Proteins - metabolism | Motor Neuron Disease - metabolism | TDP-43 Proteinopathies - genetics | Animals | Motor Neuron Disease - genetics | Fluorescent Antibody Technique | Muscle Weakness - metabolism | Polymerase Chain Reaction | Mice | Muscle Weakness - physiopathology | Genetic Vectors | Inclusion Bodies - metabolism | Motor Neuron Disease - physiopathology | TDP-43 Proteinopathies - physiopathology | DNA, Complementary | Disease Models, Animal | Ubiquitin | Amyotrophic lateral sclerosis | Genetic engineering | Analysis | Index Medicus
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