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Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 3 |
2023 | 1 |
2024 | 3 |
Search Results
7 results
Results by year
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Page 1
Standardization of zebrafish drug testing parameters for muscle diseases.
Dis Model Mech. 2024 Jan 1;17(1):dmm050339. doi: 10.1242/dmm.050339. Epub 2024 Jan 18.
Dis Model Mech. 2024.
PMID: 38235578
Free PMC article.
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.
Del Caño-Ochoa F, Ng BG, Abedalthagafi M, Almannai M, Cohn RD, Costain G, Elpeleg O, Houlden H, Karimiani EG, Liu P, Manzini MC, Maroofian R, Muriello M, Al-Otaibi A, Patel H, Shimon E, Sutton VR, Toosi MB, Wolfe LA, Rosenfeld JA, Freeze HH, Ramón-Maiques S.
Del Caño-Ochoa F, et al.
Genet Med. 2020 Oct;22(10):1598-1605. doi: 10.1038/s41436-020-0833-2. Epub 2020 May 28.
Genet Med. 2020.
PMID: 32461667
Free PMC article.
Item in Clipboard
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.
Cauley ES, Pittman A, Mummidivarpu S, Karimiani EG, Martinez S, Moroni I, Boostani R, Podini D, Mora M, Jamshidi Y, Hoffman EP, Manzini MC.
Cauley ES, et al.
Mol Genet Genomic Med. 2020 Nov;8(11):e1387. doi: 10.1002/mgg3.1387. Epub 2020 Sep 16.
Mol Genet Genomic Med. 2020.
PMID: 32936536
Free PMC article.
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Duplicated zebrafish (Danio rerio) inositol phosphatases inpp5ka and inpp5kb diverged in expression pattern and function.
Shukla D, Gural BM, Cauley ES, Battula N, Mowla S, Karas BF, Roberts LE, Cavallo L, Turkalj L, Moody SA, Swan LE, Manzini MC.
Shukla D, et al.
Dev Genes Evol. 2023 Jun;233(1):25-34. doi: 10.1007/s00427-023-00703-z. Epub 2023 May 15.
Dev Genes Evol. 2023.
PMID: 37184573
Free PMC article.
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Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK.
Saredi S, Cauley ES, Ruggieri A, Spivey TM, Ardissone A, Mora M, Moroni I, Manzini MC.
Saredi S, et al.
Muscle Nerve. 2020 Aug;62(2):266-271. doi: 10.1002/mus.26907. Epub 2020 May 27.
Muscle Nerve. 2020.
PMID: 32363625
Free PMC article.
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Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.
Safwat S, Flannery KP, El Beheiry AA, Mokhtar MM, Abdalla E, Manzini MC.
Safwat S, et al.
Neurogenetics. 2024 Apr;25(2):93-102. doi: 10.1007/s10048-024-00745-z. Epub 2024 Feb 1.
Neurogenetics. 2024.
PMID: 38296890
Free PMC article.
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Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes.
Karas BF, Terez KR, Mowla S, Battula N, Flannery KP, Gural BM, Aboussleman G, Mubin N, Manzini MC.
Karas BF, et al.
Hum Mol Genet. 2024 Apr 8;33(8):709-723. doi: 10.1093/hmg/ddae006.
Hum Mol Genet. 2024.
PMID: 38272461
Free PMC article.
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