PMC Articles for MedGen (Select 376851) - PMC

Select item 87643581.

Impaired Muscle Mitochondrial Function in Familial Partial Lipodystrophy

Vinaya Simha, Ian R Lanza, Surendra Dasari, Katherine A Klaus, Nathan Le Brasseur, Ivan Vuckovic, Marcello C Laurenti, Claudio Cobelli, John D Port, K Sreekumaran Nair

J Clin Endocrinol Metab. 2022 Feb; 107(2): 346–362. Published online 2021 Oct 6. doi: 10.1210/clinem/dgab725

PMCID:: PMC8764358

Article

Select item 83184792.

Trajectory of left ventricular geometry and diastolic dysfunction in hereditary transthyretin cardiac amyloidosis

Tatsuya Akatsuka, Naoki Fujimoto, Masaki Ishiyama, Shiro Nakamori, Kyoko Imanaka‐Yoshida, Kaoru Dohi

ESC Heart Fail. 2021 Aug; 8(4): 3422–3426. Published online 2021 Jun 19. doi: 10.1002/ehf2.13454

PMCID:: PMC8318479

Article PDF–19M

Select item 83113143.

Very late-onset Friedreich’s ataxia with rapid course mimicking as possible multiple system atrophy cerebellar type

Tushar Ashok Vidhale, Hemant R Gupta, Rohan PJ, Charmi Gandhi

BMJ Case Rep. 2021; 14(7): e242073. Published online 2021 Jul 23. doi: 10.1136/bcr-2021-242073

Retraction in:: BMJ Case Rep. 2024; 17(3): e242073.ret.

PMCID:: PMC8311314

Article

Select item 75797864.

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov

BMC Med Genet. 2020; 21(Suppl 1): 197. Published online 2020 Oct 22. doi: 10.1186/s12881-020-01128-5

PMCID:: PMC7579786

Article PDF–922K

Select item 70339305.

Acromegaly with congenital generalized lipodystrophy – two rare insulin resistance conditions in one patient: a case report

Vanessa Guerreiro, Irene Bernardes, Josué Pereira, Roberto Pestana Silva, Susana Fernandes, Davide Carvalho, Paula Freitas

J Med Case Rep. 2020; 14: 34. Published online 2020 Feb 21. doi: 10.1186/s13256-020-2352-9

PMCID:: PMC7033930

Article PDF–1.0M

Select item 60604266.

Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy

Joana Ribeiro, Olinda Rebelo, Ana Fernández-Marmiesse, Luís Negrão

Acta Myol. 2018 Jun; 37(2): 117–120. Published online 2018 Jun 1.

PMCID:: PMC6060426

Article PDF–221K

Select item 59532247.

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life

FRANK LEHMANN-HORN, ADELE D’AMICO, ENRICO BERTINI, MAURO LOMONACO, LUCIANO MERLINI, KEVIN R. NELSON, HEIKE PHILIPPI, GABRIELE SICILIANO, FRANK SPAANS, KARIN JURKAT-ROTT

Acta Myol. 2017 Sep; 36(3): 125–134. Published online 2017 Sep 1.

PMCID:: PMC5953224

Article PDF–786K

Select item 46669308.

Blood flow-restricted strength training displays high functional and biological efficacy in women: a within-subject comparison with high-load strength training

Stian Ellefsen, Daniel Hammarström, Tor A. Strand, Erika Zacharoff, Jon E. Whist, Irene Rauk, Håvard Nygaard, Geir Vegge, Marita Hanestadhaugen, Mathias Wernbom, Kristoffer T. Cumming, Roar Rønning, Truls Raastad, Bent R. Rønnestad

Am J Physiol Regul Integr Comp Physiol. 2015 Oct; 309(7): R767–R779. Published online 2015 Jul 22. doi: 10.1152/ajpregu.00497.2014

PMCID:: PMC4666930

Article

Select item 43361059.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

Mariacristina Scoto, Alexander M. Rossor, Matthew B. Harms, Sebahattin Cirak, Mattia Calissano, Stephanie Robb, Adnan Y. Manzur, Amaia Martínez Arroyo, Aida Rodriguez Sanz, Sahar Mansour, Penny Fallon, Irene Hadjikoumi, Andrea Klein, Michele Yang, Marianne De Visser, W.C.G. (Truus) Overweg-Plandsoen, Frank Baas, J. Paul Taylor, Michael Benatar, Anne M. Connolly, Muhammad T. Al-Lozi, John Nixon, Christian G.E.L. de Goede, A. Reghan Foley, Catherine Mcwilliam, Matthew Pitt, Caroline Sewry, Rahul Phadke, Majid Hafezparast, W.K. “Kling” Chong, Eugenio Mercuri, Robert H. Baloh, Mary M. Reilly, Francesco Muntoni

Neurology. 2015 Feb 17; 84(7): 668–679. doi: 10.1212/WNL.0000000000001269

PMCID:: PMC4336105

Article PDF–1.0M

Select item 373597210.

Influence of serum adiponectin level and SNP +45 polymorphism of adiponectin gene on myocardial fibrosis

Cheng-jun Yan, Su-mei Li, Qiang Xiao, Yan Liu, Jian Hou, Ai-fang Chen, Li-ping Xia, Xiu-chang Li

J Zhejiang Univ Sci B. 2013 Aug; 14(8): 721–728. doi: 10.1631/jzus.BQICC707

PMCID:: PMC3735972

Article PDF–401K

Select item 276096011.

Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: A novel myotilinopathy phenotype?

Josep Gamez, Judith Armstrong, Alexey Shatunov, Albert Selva-O’Callaghan, Rosa Dominguez-Oronoz, Arantxa Ortega, Lev Goldfarb, Isidre Ferrer, Montse Olivé

J Neurol Sci. Author manuscript; available in PMC 2009 Oct 13.

Published in final edited form as: J Neurol Sci. 2009 Feb 15; 277(1-2): 167–171. Published online 2008 Nov 22. doi: 10.1016/j.jns.2008.10.019

PMCID:: PMC2760960

Article PDF–2.0M

Select item 259251112.

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient

Montse Olivé, Alexey Shatunov, Laura Gonzalez, Olga Carmona, Dolores Moreno, Lidia Gonzalez Quereda, J.A. Martinez-Matos, Lev G. Goldfarb, Isidro Ferrer

Neuromuscul Disord. Author manuscript; available in PMC 2008 Dec 1.

Published in final edited form as: Neuromuscul Disord. 2008 Dec; 18(12): 929–933. Published online 2008 Oct 22. doi: 10.1016/j.nmd.2008.07.009