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The American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 965 - 973
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 29 - 41
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The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 354 - 365
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The New England Journal of Medicine, ISSN 0028-4793, 10/2016, Volume 375, Issue 14, pp. 1355 - 1364
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Nature Genetics, ISSN 1061-4036, 02/2014, Volume 46, Issue 2, pp. 188 - 193
Mitochondrial Ca2+ uptake has key roles in cell life and death. Physiological Ca2+ signaling regulates aerobic metabolism, whereas pathological Ca2+ overload... 
UNIPORTER | DISEASE | GENETICS & HEREDITY | MUSCULAR-DYSTROPHY | CA2+ UPTAKE | CELL-SURVIVAL | PROTEINS | MCU | Immunohistochemistry | Calcium Channels - metabolism | Calcium Signaling - physiology | Humans | DNA, Complementary - genetics | Molecular Sequence Data | Mitochondrial Membrane Transport Proteins - genetics | Histological Techniques | Cation Transport Proteins - metabolism | Base Sequence | Membrane Potential, Mitochondrial - genetics | Cation Transport Proteins - genetics | Quadriceps Muscle - pathology | Real-Time Polymerase Chain Reaction | Calcium-Binding Proteins - metabolism | Mitochondrial Membrane Transport Proteins - metabolism | Mitochondria - metabolism | Sequence Analysis, DNA | Exome - genetics | Phenotype | Analysis of Variance | Pedigree | Extrapyramidal Tracts - pathology | Fluorescent Antibody Technique | Polymorphism, Single Nucleotide - genetics | Learning Disorders - genetics | Movement Disorders - genetics | Muscular Diseases - genetics | Calcium Signaling - genetics | Calcium-Binding Proteins - genetics | Gene mutations | Cellular signal transduction | Muscle diseases | Genetic aspects | Research | Health aspects | Risk factors | Proteins | Medical research | Cell culture | Mitochondria | Genealogy | Biomedical research | Nuclear magnetic resonance--NMR | Mutation | Kinases | Muscular dystrophy | Index Medicus
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Neurology, ISSN 0028-3878, 08/2014, Volume 83, Issue 9, pp. 810 - 817
OBJECTIVES:Prospective cohort study to characterize the clinical features and course of spinal muscular atrophy type I (SMA-I). METHODS:Patients were enrolled... 
METABOLISM | GENE | NATURAL-HISTORY | SEVERITY | CLINICAL NEUROLOGY | Humans | Spinal Muscular Atrophies of Childhood | Female | Infant | Male | Research Design | Cohort Studies | Index Medicus | Abridged Index Medicus | 177
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by Cummings, Beryl B and Marshall, Jamie L and Tukiainen, Taru and Lek, Monkol and Donkervoort, Sandra and Foley, A. Reghan and Bolduc, Veronique and Waddell, Leigh B and Sandaradura, Sarah A and O'Grady, Gina L and Estrella, Elicia and Reddy, Hemakumar M and Zhao, Fengmei and Weisburd, Ben and Karczewski, Konrad J and O'Donnell-Luria, Anne H and Birnbaum, Daniel and Sarkozy, Anna and Hu, Ying and Gonorazky, Hernan and Claeys, Kristl and Joshi, Himanshu and Bournazos, Adam and Oates, Emily C and Ghaoui, Roula and Davis, Mark R and Laing, Nigel G and Topf, Ana and Kang, Peter B and Beggs, Alan H and North, Kathryn N and Straub, Volker and Dowling, James J and Muntoni, Francesco and Clarke, Nigel F and Cooper, Sandra T and Bönnemann, Carsten G and MacArthur, Daniel G and Ardlie, Kristin G and Getz, Gad and Gelfand, Ellen T and Segrè, Ayellet V and Aguet, François and Sullivan, Timothy J and Li, Xiao and Nedzel, Jared L and Trowbridge, Casandra A and Hadley, Kane and Huang, Katherine H and Noble, Michael S and Nguyen, Duyen T and Nobel, Andrew B and Wright, Fred A and Shabalin, Andrey A and Palowitch, John J and Zhou, Yi-Hui and Dermitzakis, Emmanouil T and McCarthy, Mark I and Payne, Anthony J and Lappalainen, Tuuli and Castel, Stephane and Kim-Hellmuth, Sarah and Mohammadi, Pejman and Battle, Alexis and Parsana, Princy and Mostafavi, Sara and Brown, Andrew and Ongen, Halit and Delaneau, Olivier and Panousis, Nikolaos and Howald, Cedric and Van De Bunt, Martijn and Guigo, Roderic and Monlong, Jean and Reverter, Ferran and Garrido, Diego and Munoz, Manuel and Bogu, Gireesh and Sodaei, Reza and Papasaikas, Panagiotis and Ndungu, Anne W and Montgomery, Stephen B and Li, Xin and Fresard, Laure and Davis, Joe R and Tsang, Emily K and Zappala, Zachary and Abell, Nathan S and Gloudemans, Michael J and Liu, Boxiang and Damani, Farhan N and Saha, Ashis and Kim, Yungil and Strober, Benjamin J and He, Yuan and Stephens, Matthew and Pritchard, Jonathan K and Wen, Xiaoquan and Urbut, Sarah and Cox, Nancy J and ... and Genotype-Tissue Expression Cinsort and Genotype-Tissue Expression Consortium
Science Translational Medicine, ISSN 1946-6234, 04/2017, Volume 9, Issue 386, pp. eaal5209 - eaal5209
Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic... 
MEDICINE, RESEARCH & EXPERIMENTAL | VARIANTS | RNA-SEQ | ENHANCERS ESES | GUIDELINES | MUTATIONS | TOOL | CELL BIOLOGY | Collagen Type VI - genetics | Muscular Diseases - metabolism | Humans | Collagen Type VI - metabolism | Transcriptome - genetics | Muscular Diseases - genetics | Mutation | High-Throughput Nucleotide Sequencing - methods | Index Medicus | Genètica
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by Walter, Klaudia and Min, Josine L and Huang, Jie and Crooks, Lucy and Memari, Yasin and McCarthy, Shane and Perry, John and Xu, Changjiang and Futema, Marta and Lawson, Daniel and Iotchkova, Valentina and Schiffels, Stephan and Henicks, Auey E and Danecek, Petr and Li, Rui and Floyd, James and Wain, Louise and Barroso, Inês and Humphries, Steve and Hurles, Matthew and Zeggini, Eleftheria and Barrett, Jeffrey C and Plagnol, Vincent and Richards, Brent and Greenwood, Celia and Timpson, Nicholas and Durbin, Richard and Bala, Senduran and Clapham, Peter and Coates, Guy and Cox, Tony and Daly, Allan and Du, Yuanping and Edkins, Ted and Ellis, Peter and Flicek, Paul and Guo, Xiaosen and Guo, Xueqin and Huang, Liren and Jackson, David K and Joyce, Chris and Keane, Thomas and Kolb-Kokocinski, Anja and Langford, Cordelia and Li, Yingrui and Liang, Jieqin and Lin, Hong and Liu, Ryan and Maslen, John and Muddyman, Dawn and Quail, Michael A and Stalker, Jim and Sun, Jianping and Tian, Jing and Wang, Guangbiao and Wang, Jun and Wang, Yu and Wong, Kim and Zhang, Pingbo and Birney, Ewan and Boustred, Chris and Chen, Lu and Clement, Gail and Cocca, Massimiliano and Smith, G.D and Day, Ian N.M and Day-Williams, Aaron and Down, Thomas and Dunham, David and Evans, David M and Gaunt, Tom and Geihs, Matthias and Hart, Deborah and Howie, Bryan and Hubbard, Tim and Hysi, Pirro and Jamshidi, Yalda and Karczewski, Konrad and Kemp, John and Lachance, Genevieve and Lek, Monkol and Lopes, Margarida and MacArthur, Daniel G and Marchini, Jonathan and Mangino, Massimo and Mathieson, Iain and Metrustry, Sarah and Moayyeri, Alireza and Northstone, Kate and Panoutsopoulou, Kalliope and Paternoster, Lavinia and Quaye, Lydia and Ring, Susan and Ritchie, Graham R.S and Shihab, Hashem A and Shin, So-Youn and Small, Kerrin and Artigas, M.S and Soranzo, Nicole and Southam, Lorraine and ... and UCLEB Consortium and UK10K Consortium and The UK10K Consortium
Nature: international weekly journal of science, ISSN 0028-0836, 10/2015, Volume 526, Issue 7571, pp. 82 - 89
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