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Select item 45470521.

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Katsiaryna Belaya, Pedro M. Rodríguez Cruz, Wei Wei Liu, Susan Maxwell, Simon McGowan, Maria E. Farrugia, Richard Petty, Timothy J. Walls, Maryam Sedghi, Keivan Basiri, Wyatt W. Yue, Anna Sarkozy, Marta Bertoli, Matthew Pitt, Robin Kennett, Andrew Schaefer, Kate Bushby, Matt Parton, Hanns Lochmüller, Jacqueline Palace, Francesco Muntoni, David Beeson

Brain. 2015 Sep; 138(9): 2493–2504. Published online 2015 Jul 1. doi: 10.1093/brain/awv185

PMCID:: PMC4547052

Abstract Article PDF–788K

Select item 43748592.

Genotype-Phenotype Correlation in Chinese Patients with Spinal and Bulbar Muscular Atrophy

Wang Ni, Sheng Chen, Kai Qiao, Ning Wang, Zhi-Ying Wu

PLoS One. 2015; 10(3): e0122279. Published online 2015 Mar 26. doi: 10.1371/journal.pone.0122279

PMCID:: PMC4374859

Abstract Article PDF–216K

Select item 43749933.

Early Progressive Dilated Cardiomyopathy in a Family with Becker Muscular Dystrophy Related to a Novel Frameshift Mutation in the Dystrophin Gene Exon 27

Takeshi Tsuda, Kristi Fitzgerald, Mena Scavena, Samuel Gidding, Mary O. Cox, Harold Marks, Kevin M. Flanigan, Steven A. Moore

J Hum Genet. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: J Hum Genet. 2015 Mar; 60(3): 151–155. Published online 2014 Dec 24. doi: 10.1038/jhg.2014.112

PMCID:: PMC4374993

Abstract Article PDF–562K

Select item 44041384.

Gene Expression Analyses during Spontaneous Reversal of Cardiomyopathy in Mice with Repressed Nuclear CUG-BP, Elav-Like Family (CELF) Activity in Heart Muscle

Twishasri Dasgupta, Ryan J. Coram, Samantha J. Stillwagon, Andrea N. Ladd

PLoS One. 2015; 10(4): e0124462. Published online 2015 Apr 20. doi: 10.1371/journal.pone.0124462

PMCID:: PMC4404138

Abstract Article PDF–1.0M

Select item 44126685.

Characteristic MRI Findings of upper Limb Muscle Involvement in Myotonic Dystrophy Type 1

Kazuma Sugie, Miho Sugie, Toshio Taoka, Yasuyo Tonomura, Aya Kumazawa, Tesseki Izumi, Kimihiko Kichikawa, Satoshi Ueno

PLoS One. 2015; 10(4): e0125051. Published online 2015 Apr 28. doi: 10.1371/journal.pone.0125051

PMCID:: PMC4412668

Abstract Article PDF–578K

Select item 44134606.

Neuromuscular Junction Acetylcholinesterase Deficiency Responsive to Albuterol

Sophelia H. S. Chan, Virginia C. N. Wong, Andrew G. Engel

Pediatr Neurol. Author manuscript; available in PMC 2015 Apr 29.

Published in final edited form as: Pediatr Neurol. 2012 Aug; 47(2): 137–140. doi: 10.1016/j.pediatrneurol.2012.04.022

PMCID:: PMC4413460

Abstract Article PDF–816K

Select item 44208157.

When myopathy breaks the rules: a late-onset distal presentation

Rachel Newby, Stuart Jamieson, Bjarne Udd, Jane Alty

BMJ Case Rep. 2015; 2015: bcr2015209436. Published online 2015 Apr 24. doi: 10.1136/bcr-2015-209436

PMCID:: PMC4420815

Abstract Article PDF–365K

Select item 44241308.

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

Claudio Semplicini, John Vissing, Julia R. Dahlqvist, Tanya Stojkovic, Luca Bello, Nanna Witting, Morten Duno, France Leturcq, Cinzia Bertolin, Paola D'Ambrosio, Bruno Eymard, Corrado Angelini, Luisa Politano, Pascal Laforêt, Elena Pegoraro

Neurology. 2015 Apr 28; 84(17): 1772–1781. doi: 10.1212/WNL.0000000000001519

PMCID:: PMC4424130

Abstract Article PDF–536K

Select item 44798689.

Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy

Ju Sun Song, Kyung-Ah Kim, Ju-Hong Min, Chang-Seok Ki, Jong-Won Kim, Duk Hyun Sung, Byoung Joon Kim

Yonsei Med J. 2015 Jul 1; 56(4): 993–997. Published online 2015 Jun 5. doi: 10.3349/ymj.2015.56.4.993

PMCID:: PMC4479868

Abstract Article PDF–2.0M

Select item 449525510.

Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val

Emma MM Burkitt-Wright, Lisa Bradley, Jennifer Shorto, Vivienne PM McConnell, Caroline Gannon, Helen V Firth, Soo-Mi Park, Angela D'Amore, Paul F Munyard, Peter D Turnpenny, Amanda Charlton, Meredith Wilson, Bronwyn Kerr

Am J Med Genet A. 2012 May; 158A(5): 1102–1110. Published online 2012 Apr 11. doi: 10.1002/ajmg.a.35296

PMCID:: PMC4495255

Abstract Article PDF–581K

Select item 454296011.

An unexpected cause of proximal myopathy

Sarah Ann Townsend, Matt Smith, Wyn Harris, Richard Chudleigh

BMJ Case Rep. 2012; 2012: bcr0220125809. Published online 2012 Jun 29. doi: 10.1136/bcr-02-2012-5809

PMCID:: PMC4542960

Abstract Article PDF–143K

Select item 433610512.

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

Abstract Article PDF–1.0M

Select item 458294113.

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

Francesca Magri, Irene Colombo, Roberto Del Bo, Stefano Previtali, Roberta Brusa, Patrizia Ciscato, Marina Scarlato, Dario Ronchi, Maria Grazia D’Angelo, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo Pietro Comi

BMC Neurol. 2015; 15: 172. Published online 2015 Sep 24. doi: 10.1186/s12883-015-0428-8

PMCID:: PMC4582941

Abstract Article PDF–1.5M

Select item 458929614.

Late-adult onset of X-linked myopathy with excessive autophagy (XMEA)

Cameron D. Crockett, Alessandra Ruggieri, Meena Gujrati, Christopher M. Zallek, Nivetha Ramachandran, Berge A. Minassian, Steven A. Moore

Muscle Nerve. Author manuscript; available in PMC 2015 Sep 30.

Published in final edited form as: Muscle Nerve. 2014 Jul; 50(1): 138–144. Published online 2014 May 17. doi: 10.1002/mus.24197

PMCID:: PMC4589296

Abstract Article PDF–1.0M

Select item 468940315.

Prevalence of Titin Truncating Variants in General Population

Oyediran Akinrinade, Juha W. Koskenvuo, Tero-Pekka Alastalo

PLoS One. 2015; 10(12): e0145284. Published online 2015 Dec 23. doi: 10.1371/journal.pone.0145284

PMCID:: PMC4689403

Abstract Article PDF–750K

Select item 483070116.

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

Uluç Yis, Figen Baydan, Mert Karakaya, Semra Hız Kurul, Sebahattin Cirak

Biomed Res Int. 2016; 2016: 3128735. Published online 2016 Mar 31. doi: 10.1155/2016/3128735

PMCID:: PMC4830701

Abstract Article PDF–1.5M

Select item 483507617.

Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

Mohamed-Mounir El Mendili, Timothée Lenglet, Tanya Stojkovic, Anthony Behin, Raquel Guimarães-Costa, François Salachas, Vincent Meininger, Gaelle Bruneteau, Nadine Le Forestier, Pascal Laforêt, Stéphane Lehéricy, Habib Benali, Pierre-François Pradat

PLoS One. 2016; 11(4): e0152439. Published online 2016 Apr 18. doi: 10.1371/journal.pone.0152439

Correction in:: PLoS One. 2016; 11(12): e0167886.

PMCID:: PMC4835076

Abstract Article PDF–1.5M

Select item 484584918.

Rapidly Progressive Polyneuropathy in a Patient With Monoclonal Gammopathy: A Case Report of POEMS Syndrome and Beyond

Chen Wang, Yu-Zhou Guan, Qian-Qian Cai, Wei Su, Dao-Bin Zhou, Jian Li

Medicine (Baltimore) 2016 Apr; 95(16): e3453. Published online 2016 Apr 22. doi: 10.1097/MD.0000000000003453

PMCID:: PMC4845849

Abstract Article PDF–233K

Select item 493618319.

Systematic protein-protein interaction and pathway analyses in the idiopathic inflammatory myopathies

Joanna E. Parkes, Simon Rothwell, Philip J. Day, Neil J. McHugh, Zoë E. Betteridge, Robert G. Cooper, William E. Ollier, Hector Chinoy, Janine A. Lamb, The Myositis Genetics Consortium (MYOGEN)

Arthritis Res Ther. 2016; 18: 156. Published online 2016 Jul 7. doi: 10.1186/s13075-016-1061-7

PMCID:: PMC4936183

Abstract Article PDF–2.0M

Select item 493632620.

C. Fiorillo, G. Astrea, M. Savarese, D. Cassandrini, G. Brisca, F. Trucco, M. Pedemonte, R. Trovato, L. Ruggiero, L. Vercelli, A. D’Amico, G. Tasca, M. Pane, M. Fanin, L. Bello, P. Broda, O. Musumeci, C. Rodolico, S. Messina, G. L. Vita, M. Sframeli, S. Gibertini, L. Morandi, M. Mora, L. Maggi, A. Petrucci, R. Massa, M. Grandis, A. Toscano, E. Pegoraro, E. Mercuri, E. Bertini, T. Mongini, L. Santoro, V. Nigro, C. Minetti, F. M. Santorelli, C. Bruno, on behalf of the Italian Network on Congenital Myopathies

Orphanet J Rare Dis. 2016; 11: 91. Published online 2016 Jul 7. doi: 10.1186/s13023-016-0476-1

PMCID:: PMC4936326

Abstract Article PDF–2.3M

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