TY - JOUR AU - Nigro, V. AU - Savarese, M. PY - 2014 DA - 2014// TI - Genetic basis of limb-girdle muscular dystrophies: the 2014 update JO - Acta Myol VL - 33 ID - Nigro2014 ER - TY - JOUR AU - Vissing, J. PY - 2016 DA - 2016// TI - Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies JO - Curr Opin Neurol VL - 29 UR - https://doi.org/10.1097/WCO.0000000000000375 DO - 10.1097/WCO.0000000000000375 ID - Vissing2016 ER - TY - JOUR AU - Yiş, U. AU - Diniz, G. AU - Hazan, F. PY - 2018 DA - 2018// TI - Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey JO - Acta Myol VL - 37 ID - Yiş2018 ER - TY - JOUR AU - Bushby, K. M. PY - 1999 DA - 1999// TI - The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms JO - Hum Mol Genet VL - 8 UR - https://doi.org/10.1093/hmg/8.10.1875 DO - 10.1093/hmg/8.10.1875 ID - Bushby1999 ER - TY - JOUR AU - Evila, A. AU - Palmio, J. AU - Vihola, A. AU - Savarese, M. AU - Tasca, G. AU - Penttila, S. PY - 2017 DA - 2017// TI - Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy JO - Mol Neurobiol VL - 54 UR - https://doi.org/10.1007/s12035-016-0242-3 DO - 10.1007/s12035-016-0242-3 ID - Evila2017 ER - TY - JOUR AU - Pfeffer, G. AU - Barresi, R. AU - Wilson, I. J. AU - Hardy, S. A. AU - Griffin, H. AU - Hudson, J. PY - 2014 DA - 2014// TI - Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure JO - J Neurol Neurosurg Psychiatry VL - 85 UR - https://doi.org/10.1136/jnnp-2012-304728 DO - 10.1136/jnnp-2012-304728 ID - Pfeffer2014 ER - TY - JOUR AU - Evila, A. AU - Vihola, A. AU - Sarparanta, J. AU - Raheem, O. AU - Palmio, J. AU - Sandell, S. PY - 2014 DA - 2014// TI - Atypical phenotypes in titinopathies explained by second titin mutations JO - Ann Neurol VL - 75 UR - https://doi.org/10.1002/ana.24102 DO - 10.1002/ana.24102 ID - Evila2014 ER - TY - JOUR AU - Chauveau, C. AU - Bonnemann, C. G. AU - Julien, C. AU - Kho, A. L. AU - Marks, H. AU - Talim, B. PY - 2014 DA - 2014// TI - Recessive TTN truncating mutations define novel forms of core myopathy with heart disease JO - Hum Mol Genet VL - 23 UR - https://doi.org/10.1093/hmg/ddt494 DO - 10.1093/hmg/ddt494 ID - Chauveau2014 ER - TY - JOUR AU - Ceyhan-Birsoy, O. AU - Agrawal, P. B. AU - Hidalgo, C. AU - Schmitz-Abe, K. AU - DeChene, E. T. AU - Swanson, L. C. PY - 2013 DA - 2013// TI - Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy JO - Neurology VL - 81 UR - https://doi.org/10.1212/WNL.0b013e3182a6ca62 DO - 10.1212/WNL.0b013e3182a6ca62 ID - Ceyhan-Birsoy2013 ER - TY - JOUR AU - Dabby, R. AU - Sadeh, M. AU - Hilton-Jones, D. AU - Plotz, P. AU - Hackman, P. AU - Vihola, A. PY - 2015 DA - 2015// TI - Adult onset limb-girdle muscular dystrophy – a recessive titinopathy masquerading as myositis JO - J Neurol Sci VL - 351 UR - https://doi.org/10.1016/j.jns.2015.03.001 DO - 10.1016/j.jns.2015.03.001 ID - Dabby2015 ER - TY - BOOK PY - 2014 DA - 2014// TI - Ion AmpliSeqTM Library Preparation for Human Identification Applications, P/N MAN0010640, Rev. A.0 PB - Thermo Fisher Scientific CY - Massachusetts ID - ref11 ER - TY - BOOK PY - 2014 DA - 2014// TI - Ion PGMTM Template OT2 200 Kit for use with the Ion OneTouchTM 2 System, P/N MAN0007220, Rev. A.0 PB - Thermo Fisher Scientific CY - Massachusetts ID - ref12 ER - TY - BOOK PY - 2013 DA - 2013// TI - Ion PGMTM Sequencing 200 Kit v2, P/N MAN0007273, Rev. 3.0 PB - Thermo Fisher Scientific CY - Massachusetts ID - ref13 ER - TY - JOUR AU - Richards, S. AU - Aziz, N. AU - Bale, S. PY - 2015 DA - 2015// TI - Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology JO - Genet Med VL - 17 UR - https://doi.org/10.1038/gim.2015.30 DO - 10.1038/gim.2015.30 ID - Richards2015 ER - TY - JOUR AU - Nigro, V. AU - Aurino, S. AU - Piluso, G. PY - 2011 DA - 2011// TI - Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches JO - Curr Opin Neurol VL - 24 UR - https://doi.org/10.1097/WCO.0b013e32834aa38d DO - 10.1097/WCO.0b013e32834aa38d ID - Nigro2011 ER - TY - JOUR AU - Taghizadeh, E. AU - Abdolkarimi, H. AU - Boostani, R. AU - Sadrnabavi, A. PY - 2018 DA - 2018// TI - Limb-girdle muscular dystrophy with new mutation in Sarcoglycan Beta gene: a case report JO - Iran J Public Health VL - 47 ID - Taghizadeh2018 ER - TY - JOUR AU - Neiva-Sousa, M. AU - Almeida-Coelho, J. AU - Falcão-Pires, I. AU - Leite-Moreira, A. F. PY - 2015 DA - 2015// TI - Titin mutations: the fall of goliath JO - Heart Fail Rev VL - 20 UR - https://doi.org/10.1007/s10741-015-9495-6 DO - 10.1007/s10741-015-9495-6 ID - Neiva-Sousa2015 ER - TY - JOUR AU - Younus, M. AU - Ahmad, F. AU - Malik, E. PY - 2019 DA - 2019// TI - SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report JO - Front Genet VL - 9 UR - https://doi.org/10.3389/fgene.2018.00727 DO - 10.3389/fgene.2018.00727 ID - Younus2019 ER - TY - JOUR AU - Labeit, S. AU - Gautel, M. AU - Lakey, A. AU - Trinick, J. PY - 1992 DA - 1992// TI - Towards a molecular understanding of titin JO - EMBO J VL - 11 UR - https://doi.org/10.1002/j.1460-2075.1992.tb05222.x DO - 10.1002/j.1460-2075.1992.tb05222.x ID - Labeit1992 ER - TY - JOUR AU - Miller, G. AU - Musa, H. AU - Gautel, M. PY - 2003 DA - 2003// TI - PeckhamM. A targeted deletion of the C-terminal end of titin, including the titin kinase domain, impairs myofibrillogenesis JO - J Cell Sci VL - 116 UR - https://doi.org/10.1242/jcs.00768 DO - 10.1242/jcs.00768 ID - Miller2003 ER - TY - JOUR AU - Tskhovrebova, L. AU - Trinick, J. PY - 2003 DA - 2003// TI - Titin: properties and family relationships JO - Nat Rev Mol Cell Biol VL - 4 UR - https://doi.org/10.1038/nrm1198 DO - 10.1038/nrm1198 ID - Tskhovrebova2003 ER - TY - JOUR AU - Meyer, L. C. AU - Wright, N. T. PY - 2013 DA - 2013// TI - Structure of giant muscle proteins JO - Front Physiol VL - 4 UR - https://doi.org/10.3389/fphys.2013.00368 DO - 10.3389/fphys.2013.00368 ID - Meyer2013 ER - TY - JOUR AU - Trinick, J. PY - 1994 DA - 1994// TI - Titin and nebulin: protein rulers inmuscle? JO - Trends Biochem Sci VL - 19 UR - https://doi.org/10.1016/0968-0004(94)90088-4 DO - 10.1016/0968-0004(94)90088-4 ID - Trinick1994 ER - TY - JOUR AU - Hackman, P. AU - Vihola, A. AU - Haravuori, H. AU - Marchand, S. AU - Sarparanta, J. AU - Seze, J. PY - 2002 DA - 2002// TI - Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin JO - Am J Hum Genet VL - 71 UR - https://doi.org/10.1086/342380 DO - 10.1086/342380 ID - Hackman2002 ER - TY - JOUR AU - Huebsch, K. A. AU - Kudryashova, E. AU - Wooley, C. M. PY - 2005 DA - 2005// TI - Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain JO - Hum Mol Genet VL - 14 UR - https://doi.org/10.1093/hmg/ddi313 DO - 10.1093/hmg/ddi313 ID - Huebsch2005 ER -