Musante L - Search Results

1

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

Iqbal Z, Willemsen MH, Papon MA, Musante L, Benevento M, Hu H, Venselaar H, Wissink-Lindhout WM, Vulto-van Silfhout AT, Vissers LE, de Brouwer AP, Marouillat S, Wienker TF, Ropers HH, Kahrizi K, Nadif Kasri N, Najmabadi H, Laumonnier F, Kleefstra T, van Bokhoven H. Iqbal Z, et al. Among authors: musante l. Am J Hum Genet. 2015 Mar 5;96(3):386-96. doi: 10.1016/j.ajhg.2015.01.010. Epub 2015 Feb 19. Am J Hum Genet. 2015. PMID: 25704603 Free PMC article.

2

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.

Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gécz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, Tzschach A, Hartmann N, Roloff TC, Shoichet S, Hagens O, Tao J, Van Bokhoven H, Turner G, Chelly J, Moraine C, Fryns JP, Nuber U, Hoeltzenbein M, Scharff C, Scherthan H, Lenzner S, Hamel BC, Schweiger S, Ropers HH. Kalscheuer VM, et al. Among authors: musante l. Nat Genet. 2003 Dec;35(4):313-5. doi: 10.1038/ng1264. Epub 2003 Nov 23. Nat Genet. 2003. PMID: 14634649

3

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers HH, Kuss AW. Jensen LR, et al. Among authors: musante l. Eur J Hum Genet. 2011 Jun;19(6):717-20. doi: 10.1038/ejhg.2010.244. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267006 Free PMC article.

4

The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules.

Kunde SA, Musante L, Grimme A, Fischer U, Müller E, Wanker EE, Kalscheuer VM. Kunde SA, et al. Among authors: musante l. Hum Mol Genet. 2011 Dec 15;20(24):4916-31. doi: 10.1093/hmg/ddr430. Epub 2011 Sep 20. Hum Mol Genet. 2011. PMID: 21933836

5

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Najmabadi H, et al. Among authors: musante l. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423. Nature. 2011. PMID: 21937992

6

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.

Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH. Bainbridge MN, et al. Among authors: musante l. Genome Med. 2013 Feb 5;5(2):11. doi: 10.1186/gm415. eCollection 2013. Genome Med. 2013. PMID: 23383720 Free PMC article.

7

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.

Püttmann L, Stehr H, Garshasbi M, Hu H, Kahrizi K, Lipkowitz B, Jamali P, Tzschach A, Najmabadi H, Ropers HH, Musante L, Kuss AW. Püttmann L, et al. Among authors: musante l. Am J Med Genet A. 2013 Aug;161A(8):1915-22. doi: 10.1002/ajmg.a.36030. Epub 2013 Jul 4. Am J Med Genet A. 2013. PMID: 23825041

8

Genetics of recessive cognitive disorders.

Musante L, Ropers HH. Musante L, et al. Trends Genet. 2014 Jan;30(1):32-9. doi: 10.1016/j.tig.2013.09.008. Epub 2013 Oct 28. Trends Genet. 2014. PMID: 24176302 Review.

9

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability.

Larti F, Kahrizi K, Musante L, Hu H, Papari E, Fattahi Z, Bazazzadegan N, Liu Z, Banan M, Garshasbi M, Wienker TF, Ropers HH, Galjart N, Najmabadi H. Larti F, et al. Among authors: musante l. Eur J Hum Genet. 2015 Mar;23(3):331-6. doi: 10.1038/ejhg.2014.13. Epub 2014 Feb 26. Eur J Hum Genet. 2015. PMID: 24569606 Free PMC article.

10

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.

Hu H, Suckow V, Musante L, Roggenkamp V, Kraemer N, Ropers HH, Hübner C, Wienker TF, Kaindl AM. Hu H, et al. Among authors: musante l. Cell Cycle. 2014;13(10):1650-1. doi: 10.4161/cc.28706. Epub 2014 Apr 1. Cell Cycle. 2014. PMID: 24691052 Free PMC article. No abstract available.

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