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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2005 | 1 |
2010 | 1 |
2013 | 1 |
2014 | 1 |
2015 | 1 |
2016 | 2 |
2024 | 0 |
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6 results
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Page 1
Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.
Muscle Nerve. 2013 Jun;47(6):931-7. doi: 10.1002/mus.23763. Epub 2013 May 11.
Muscle Nerve. 2013.
PMID: 23666804
Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene.
Khadilkar SV, Chaudhari CR, Dastur RS, Gaitonde PS, Yadav JG.
Khadilkar SV, et al.
Ann Indian Acad Neurol. 2016 Jan-Mar;19(1):108-11. doi: 10.4103/0972-2327.175435.
Ann Indian Acad Neurol. 2016.
PMID: 27011640
Free PMC article.
Item in Clipboard
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
Nilsson MI, Macneil LG, Kitaoka Y, Alqarni F, Suri R, Akhtar M, Haikalis ME, Dhaliwal P, Saeed M, Tarnopolsky MA.
Nilsson MI, et al.
PLoS One. 2014 Jul 31;9(7):e102549. doi: 10.1371/journal.pone.0102549. eCollection 2014.
PLoS One. 2014.
PMID: 25079074
Free PMC article.
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Novel mutations in the calpain 3 gene in Germany.
Todorova A, Kress W, Mueller C.
Todorova A, et al.
Clin Genet. 2005 Apr;67(4):356-8. doi: 10.1111/j.1399-0004.2005.00398.x.
Clin Genet. 2005.
PMID: 15733273
No abstract available.
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Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene.
Peddareddygari LR, Surgan V, Grewal RP.
Peddareddygari LR, et al.
J Clin Neuromuscul Dis. 2010 Dec;12(2):62-5. doi: 10.1097/CND.0b013e3181f3dbd3.
J Clin Neuromuscul Dis. 2010.
PMID: 21386772
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A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, Strom CM, Keiles SB, Higgins JJ.
Karbassi I, et al.
Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.
Hum Mutat. 2016.
PMID: 26467025
Free PMC article.
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