Lara ML - Search Results

1

Rosetta's comet 67P/Churyumov-Gerasimenko sheds its dusty mantle to reveal its icy nature.

Fornasier S, Mottola S, Keller HU, Barucci MA, Davidsson B, Feller C, Deshapriya JD, Sierks H, Barbieri C, Lamy PL, Rodrigo R, Koschny D, Rickman H, A'Hearn M, Agarwal J, Bertaux JL, Bertini I, Besse S, Cremonese G, Da Deppo V, Debei S, De Cecco M, Deller J, El-Maarry MR, Fulle M, Groussin O, Gutierrez PJ, Güttler C, Hofmann M, Hviid SF, Ip WH, Jorda L, Knollenberg J, Kovacs G, Kramm R, Kührt E, Küppers M, Lara ML, Lazzarin M, Moreno JJ, Marzari F, Massironi M, Naletto G, Oklay N, Pajola M, Pommerol A, Preusker F, Scholten F, Shi X, Thomas N, Toth I, Tubiana C, Vincent JB. Fornasier S, et al. Among authors: lara ml. Science. 2016 Dec 23;354(6319):1566-1570. doi: 10.1126/science.aag2671. Epub 2016 Nov 17. Science. 2016. PMID: 27856849

2

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.

Maselli RA, Arredondo J, Vázquez J, Chong JX, Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. Maselli RA, et al. Ann N Y Acad Sci. 2018 Feb;1413(1):119-125. doi: 10.1111/nyas.13585. Epub 2018 Jan 28. Ann N Y Acad Sci. 2018. PMID: 29377152 Free PMC article. Review.

3

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

Maselli RA, Arredondo J, Vázquez J, Chong JX; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. Maselli RA, et al. Am J Med Genet A. 2017 Aug;173(8):2240-2245. doi: 10.1002/ajmg.a.38291. Epub 2017 May 25. Am J Med Genet A. 2017. PMID: 28544784 Free PMC article.

4

COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.

Arredondo J, Lara M, Ng F, Gochez DA, Lee DC, Logia SP, Nguyen J, Maselli RA. Arredondo J, et al. Hum Genet. 2014 May;133(5):599-616. doi: 10.1007/s00439-013-1391-3. Epub 2013 Nov 27. Hum Genet. 2014. PMID: 24281389 Free PMC article.

5

Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.

Arnold WD, Feldman DH, Ramirez S, He L, Kassar D, Quick A, Klassen TL, Lara M, Nguyen J, Kissel JT, Lossin C, Maselli RA. Arnold WD, et al. Ann Neurol. 2015 May;77(5):840-50. doi: 10.1002/ana.24389. Epub 2015 Mar 27. Ann Neurol. 2015. PMID: 25707578 Free PMC article.

6

Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.

Arredondo J, Lara M, Gospe SM Jr, Mazia CG, Vaccarezza M, Garcia-Erro M, Bowe CM, Chang CH, Mezei MM, Maselli RA. Arredondo J, et al. Hum Mutat. 2015 Sep;36(9):881-93. doi: 10.1002/humu.22823. Epub 2015 Jul 24. Hum Mutat. 2015. PMID: 26080897 Free PMC article.

7

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile.

Bevilacqua JA, Lara M, Díaz J, Campero M, Vázquez J, Maselli RA. Bevilacqua JA, et al. Eur J Transl Myol. 2017 Sep 20;27(3):6832. doi: 10.4081/ejtm.2017.6832. eCollection 2017 Jun 27. Eur J Transl Myol. 2017. PMID: 29118959 Free PMC article.

8

Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A.

Maselli RA, Vázquez J, Schrumpf L, Arredondo J, Lara M, Strober JB, Pytel P, Wollmann RL, Ferns M. Maselli RA, et al. Mol Genet Genomic Med. 2018 May;6(3):434-440. doi: 10.1002/mgg3.370. Epub 2018 Feb 14. Mol Genet Genomic Med. 2018. PMID: 29441694 Free PMC article.

9

Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.

Maselli RA, Arredondo J, Nguyen J, Lara M, Ng F, Ngo M, Pham JM, Yi Q, Stajich JM, McDonald K, Hauser MA, Wollmann RL. Maselli RA, et al. Clin Genet. 2014 Feb;85(2):166-71. doi: 10.1111/cge.12118. Epub 2013 Mar 11. Clin Genet. 2014. PMID: 23488891

10

Persistent homology classification algorithm.

De Lara MLD. De Lara MLD. PeerJ Comput Sci. 2023 Jan 10;9:e1195. doi: 10.7717/peerj-cs.1195. eCollection 2023. PeerJ Comput Sci. 2023. PMID: 37346603 Free PMC article.

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