PMC Articles for MedGen (Select 342671) - PMC - NCBI

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Items: 8

Select item 77317441.

Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis

Tarin A. Europa, Melissa Nel, Jeannine M. Heckmann

Orphanet J Rare Dis. 2020; 15: 346. Published online 2020 Dec 11. doi: 10.1186/s13023-020-01629-9

PMCID:: PMC7731744

Abstract Article PDF–2.1M

Select item 74620702.

LCM-seq reveals unique transcriptional adaptation mechanisms of resistant neurons and identifies protective pathways in spinal muscular atrophy

Susanne Nichterwitz, Jik Nijssen, Helena Storvall, Christoph Schweingruber, Laura Helen Comley, Ilary Allodi, Mirjam van der Lee, Qiaolin Deng, Rickard Sandberg, Eva Hedlund

Genome Res. 2020 Aug; 30(8): 1083–1096. doi: 10.1101/gr.265017.120

PMCID:: PMC7462070

Abstract Article PDF–4.2M

Select item 46662743.

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

Robert D. S. Pitceathly, Jasper M. Morrow, Christopher D. J. Sinclair, Cathy Woodward, Mary G. Sweeney, Shamima Rahman, Gordon T. Plant, Nadeem Ali, Fion Bremner, Indran Davagnanam, Tarek A. Yousry, Michael G. Hanna, John S. Thornton

Eur Radiol. 2016; 26(1): 130–137. Published online 2015 May 21. doi: 10.1007/s00330-015-3801-5

PMCID:: PMC4666274

Abstract Article PDF–542K

Select item 38884974.

Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles

Gang Liu, Xue Chen, Xiantao Sun, Hu Liu, Kanxing Zhao, Qinglin Chang, Xinyuan Pan, Xiuying Wang, Songtao Yuan, Qinghuai Liu, Chen Zhao

Mol Vis. 2014; 20: 15–23. Published online 2014 Jan 6.

PMCID:: PMC3888497

Abstract Article PDF–2.6M

Select item 29411785.

Evidence of an Asymmetrical Endophenotype in Congenital Fibrosis of Extraocular Muscles Type 3 Resulting from TUBB3 Mutations

Joseph L. Demer, Robert A. Clark, Max A. Tischfield, Elizabeth C. Engle

Invest Ophthalmol Vis Sci. 2010 Sep; 51(9): 4600–4611. doi: 10.1167/iovs.10-5438

PMCID:: PMC2941178

Abstract Article PDF–3.0M

Select item 4927686.

Oculopharyngeal myopathy with distal and cardiomyopathy.

I Goto, Y Kanazawa, T Kobayashi, Y Murai, Y Kuroiwa

J Neurol Neurosurg Psychiatry. 1977 Jun; 40(6): 600–607. doi: 10.1136/jnnp.40.6.600

PMCID:: PMC492768

Summary Page Browse PDF–2.3M

Select item 50631017.

Cross‐disease comparison of amyotrophic lateral sclerosis and spinal muscular atrophy reveals conservation of selective vulnerability but differential neuromuscular junction pathology

Laura H. Comley, Jik Nijssen, Johanna Frost‐Nylen, Eva Hedlund

J Comp Neurol. 2016 May 1; 524(7): 1424–1442. Published online 2015 Nov 23. doi: 10.1002/cne.23917

PMCID:: PMC5063101

Abstract Article PDF–19M

Select item 48675858.

Differential neuronal vulnerability identifies IGF-2 as a protective factor in ALS

Ilary Allodi, Laura Comley, Susanne Nichterwitz, Monica Nizzardo, Chiara Simone, Julio Aguila Benitez, Ming Cao, Stefania Corti, Eva Hedlund

Sci Rep. 2016; 6: 25960. Published online 2016 May 16. doi: 10.1038/srep25960

PMCID:: PMC4867585

Abstract Article PDF–3.2M

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