PMC Links for Nucleotide (Select 642945630) - PMC

Jennifer Roggenbuck, Kelly Rich, Ana Morales, Christopher A. Tan, Douglas Eck, Wendy King, Matteo Vatta, Thomas Winder, Bakri Elsheikh, Ray E. Hershberger, John T. Kissel

Mol Genet Genomic Med. 2019 Nov; 7(11): e924. Published online 2019 Sep 5. doi: 10.1002/mgg3.924

PMCID:: PMC6825852

Abstract Article PDF–2.3M

Select item 68194116.

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel, Xue Zhang

BMC Med Genet. 2019; 20: 166. Published online 2019 Oct 29. doi: 10.1186/s12881-019-0895-7

Correction in:: BMC Med Genet. 2019; 20: 195.

PMCID:: PMC6819411

Abstract Article PDF–2.9M

Select item 66720247.

MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing

Minttu Marttila, Wathone Win, Fouad Al-Ghamdi, Hoda Z. Abdel-Hamid, David Lacomis, Alan H. Beggs

Cold Spring Harb Mol Case Stud. 2019 Aug; 5(4): a004184. doi: 10.1101/mcs.a004184

PMCID:: PMC6672024

Abstract Article PDF–3.4M

Select item 64120468.

Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

Oyediran Akinrinade, Tiina Heliö, Ronald H. Lekanne Deprez, Jan D. H. Jongbloed, Ludolf G. Boven, Maarten P. van den Berg, Yigal M. Pinto, Tero-Pekka Alastalo, Samuel Myllykangas, Karin van Spaendonck-Zwarts, J. Peter van Tintelen, Paul A. van der Zwaag, Juha Koskenvuo

Sci Rep. 2019; 9: 4093. Published online 2019 Mar 11. doi: 10.1038/s41598-019-39911-x

Correction in:: Sci Rep. 2020; 10: 17264.

PMCID:: PMC6412046

Abstract Article PDF–1.7M

Select item 64075259.

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease

Hernan D. Gonorazky, Sergey Naumenko, Arun K. Ramani, Viswateja Nelakuditi, Pouria Mashouri, Peiqui Wang, Dennis Kao, Krish Ohri, Senthuri Viththiyapaskaran, Mark A. Tarnopolsky, Katherine D. Mathews, Steven A. Moore, Andres N. Osorio, David Villanova, Dwi U. Kemaladewi, Ronald D. Cohn, Michael Brudno, James J. Dowling

Am J Hum Genet. 2019 Mar 7; 104(3): 466–483. Published online 2019 Feb 28. doi: 10.1016/j.ajhg.2019.01.012

Correction in:: Am J Hum Genet. 2019 May 2; 104(5): 1007.

PMCID:: PMC6407525

Abstract Article PDF–2.3M

Select item 630563810.

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

Pratibha Nair, Sandra Sabbagh, Hicham Mansour, Ali Fawaz, Ghassan Hmaimess, Peter Noun, Rawane Dagher, Hala Megarbane, Sayeeda Hana, Saada Alame, Maher Lamaa, Dana Hasbini, Roula Farah, Mariam Rajab, Samantha Stora, Oulfat El‐Tourjuman, Pauline Abou Jaoude, Gihad Chalouhi, Rony Sayad, Anne‐Celine Gillart, Mahmoud Al‐Ali, Valerie Delague, Stephany El‐Hayek, André Mégarbané

Mol Genet Genomic Med. 2018 Nov; 6(6): 1041–1052. Published online 2018 Oct 7. doi: 10.1002/mgg3.480

PMCID:: PMC6305638

Abstract Article PDF–1.0M

Select item 629444011.

Multigenic disease and bilineal inheritance in dilated cardiomyopathy is illustrated in non-segregating LMNA pedigrees

Jason R. Cowan, Daniel D. Kinnamon, Ana Morales, Lorien Salyer, Deborah A. Nickerson, Ray E. Hershberger

Circ Genom Precis Med. Author manuscript; available in PMC 2018 Dec 14.

Published in final edited form as: Circ Genom Precis Med. 2018 Jul; 11(7): e002038. doi: 10.1161/CIRCGEN.117.002038

PMCID:: PMC6294440

Abstract Article PDF–595K

Select item 609286012.

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Liang Wang, Victor Wei Zhang, Shaoyuan Li, Huan Li, Yiming Sun, Jing Li, Yuling Zhu, Ruojie He, Jinfu Lin, Cheng Zhang

Orphanet J Rare Dis. 2018; 13: 133. Published online 2018 Aug 14. doi: 10.1186/s13023-018-0859-6

PMCID:: PMC6092860

Abstract Article PDF–3.7M

Select item 606696413.

Severe Course of Peripartum Cardiomyopathy and Subsequent Recovery in a Patient with a Novel TTN Gene-Truncating Mutation

Karolina E. Kryczka, Zofia Dzielińska, Maria Franaszczyk, Izabela Wojtkowska, Jan Henzel, Mateusz Śpiewak, Janina Stępińska, Zofia T. Bilińska, Rafał Płoski, Marcin Demkow

Am J Case Rep. 2018; 19: 820–824. Published online 2018 Jul 12. doi: 10.12659/AJCR.909601

PMCID:: PMC6066964

Abstract Article PDF–1.3M

Select item 602860814.

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies

Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Claire L. Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Volker Straub, Tarek A. Yousry

Front Neurol. 2018; 9: 456. Published online 2018 Jun 26. doi: 10.3389/fneur.2018.00456

PMCID:: PMC6028608

Abstract Article PDF–1.8M

Select item 599329115.

The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy

Edgar T. Hoorntje, Karin Y. van Spaendonck‐Zwarts, Wouter P. te Rijdt, Ludolf Boven, Aryan Vink, Jasper J. van der Smagt, Folkert W. Asselbergs, Jan van Wijngaarden, Eric A. Hennekam, Yigal M. Pinto, Ronald H. Lekanne Deprez, Daniela Q.C.M. Barge‐Schaapveld, Marianne Bootsma, Jakub Regieli, Yvonne M. Hoedemaekers, Jan D.H. Jongbloed, Maarten P. van den Berg, J. Peter van Tintelen

Eur J Heart Fail. 2018 Apr; 20(4): 803–806. Published online 2017 Oct 23. doi: 10.1002/ejhf.1030

PMCID:: PMC5993291

Article PDF–474K

Select item 589903416.

Hypertrophy Regression with N-AcetyLcysTeine in Hypertrophic CardioMyopathy (HALT-HCM): A Randomized Placebo Controlled Double Blind Pilot Study

Ali J. Marian, Yanli Tan, Lili Li, Jeffrey Chang, Petros Syrris, Manouchehr Hessabi, Mohammad H. Rahbar, James T. Willerson, Benjamin Y. Cheong, Chia-Ying Liu, Neal S. Kleiman, David A. Bluemke, Sherif F. Nagueh

Circ Res. Author manuscript; available in PMC 2019 Apr 13.

Published in final edited form as: Circ Res. 2018 Apr 13; 122(8): 1109–1118. Published online 2018 Mar 14. doi: 10.1161/CIRCRESAHA.117.312647

PMCID:: PMC5899034

Abstract Article PDF–482K

Select item 588521717.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella, Anni Evilä, Giuseppina Di Fruscio, Olivier Vanakker, Sara Gibertini, Liliana Vercelli, Alessandra Ruggieri, Carlo Antozzi, Helena Luque, Sandra Janssens, Maria Barbara Pasanisi, Chiara Fiorillo, Monika Raimondi, Manuela Ergoli, Luisa Politano, Claudio Bruno, Anna Rubegni, Marika Pane, Filippo M. Santorelli, Carlo Minetti, Corrado Angelini, Jan De Bleecker, Maurizio Moggio, Tiziana Mongini, Giacomo Pietro Comi, Lucio Santoro, Eugenio Mercuri, Elena Pegoraro, Marina Mora, Peter Hackman, Bjarne Udd, Vincenzo Nigro

JAMA Neurol. 2018 May; 75(5): 557–565. Published online 2018 Feb 12. doi: 10.1001/jamaneurol.2017.4899

Correction in:: JAMA Neurol. 2018 Nov; 75(11): 1443.

PMCID:: PMC5885217

Abstract Article

Select item 585020718.

Novel α‐Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical‐Pathologic Correlation

Andrea Frustaci, Alessandro De Luca, Valentina Guida, Tommaso Biagini, Tommaso Mazza, Carlo Gaudio, Claudio Letizia, Matteo Antonio Russo, Nicola Galea, Cristina Chimenti

J Am Heart Assoc. 2018 Feb; 7(4): e008068. Published online 2018 Feb 10. doi: 10.1161/JAHA.117.008068

PMCID:: PMC5850207

Abstract Article PDF–2.0M

Select item 573513719.

Germline TTN variants are enriched in PTEN-wildtype Bannayan–Riley–Ruvalcaba syndrome

Lamis Yehia, Ying Ni, Charis Eng

NPJ Genom Med. 2017; 2: 37. Published online 2017 Dec 18. doi: 10.1038/s41525-017-0039-y

PMCID:: PMC5735137

Abstract Article PDF–1.1M

Select item 565797620.

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

Daniela Rossi, Johanna Palmio, Anni Evilä, Lucia Galli, Virginia Barone, Tracy A. Caldwell, Rachel A. Policke, Esraa Aldkheil, Christopher E. Berndsen, Nathan T. Wright, Edoardo Malfatti, Guy Brochier, Enrico Pierantozzi, Albena Jordanova, Velina Guergueltcheva, Norma Beatriz Romero, Peter Hackman, Bruno Eymard, Bjarne Udd, Vincenzo Sorrentino

PLoS One. 2017; 12(10): e0186642. Published online 2017 Oct 26. doi: 10.1371/journal.pone.0186642

PMCID:: PMC5657976

Abstract Article PDF–8.9M

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