Zatz M - Search Results

1

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S. Melo US, et al. Among authors: zatz m. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18. Hum Mol Genet. 2015. PMID: 26385635 Free PMC article.

2

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.

Sertié AL, Quimby M, Moreira ES, Murray J, Zatz M, Antonarakis SE, Passos-Bueno MR. Sertié AL, et al. Among authors: zatz m. Hum Mol Genet. 1996 Jun;5(6):843-7. doi: 10.1093/hmg/5.6.843. Hum Mol Genet. 1996. PMID: 8776601

3

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).

Sertié AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR. Sertié AL, et al. Among authors: zatz m. Hum Mol Genet. 2000 Aug 12;9(13):2051-8. doi: 10.1093/hmg/9.13.2051. Hum Mol Genet. 2000. PMID: 10942434

4

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M. Starling A, et al. Among authors: zatz m. Eur J Hum Genet. 2004 Dec;12(12):1033-40. doi: 10.1038/sj.ejhg.5201289. Eur J Hum Genet. 2004. PMID: 15367920

5

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M. Nishimura AL, et al. Among authors: zatz m. Am J Hum Genet. 2004 Nov;75(5):822-31. doi: 10.1086/425287. Epub 2004 Sep 15. Am J Hum Genet. 2004. PMID: 15372378 Free PMC article.

6

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.

Macedo-Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AM, Zatz M. Macedo-Souza LI, et al. Among authors: zatz m. Ann Neurol. 2005 May;57(5):730-7. doi: 10.1002/ana.20478. Ann Neurol. 2005. PMID: 15852396

7

A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.

Starling A, Schlesinger D, Kok F, Passos-Bueno MR, Vainzof M, Zatz M. Starling A, et al. Among authors: zatz m. Neurology. 2005 Dec 13;65(11):1832-3. doi: 10.1212/01.wnl.0000187073.58307.41. Neurology. 2005. PMID: 16344536

8

Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.

Schmidt WM, Kraus C, Höger H, Hochmeister S, Oberndorfer F, Branka M, Bingemann S, Lassmann H, Müller M, Macedo-Souza LI, Vainzof M, Zatz M, Reis A, Bittner RE. Schmidt WM, et al. Among authors: zatz m. EMBO Rep. 2007 Jul;8(7):691-7. doi: 10.1038/sj.embor.7401001. Epub 2007 Jun 15. EMBO Rep. 2007. PMID: 17571074 Free PMC article.

9

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.

Mitne-Neto M, Kok F, Beetz C, Pessoa A, Bueno C, Graciani Z, Martyn M, Monteiro CB, Mitne G, Hubert P, Nygren AO, Valadares M, Cerqueira AM, Starling A, Deufel T, Zatz M. Mitne-Neto M, et al. Among authors: zatz m. Eur J Hum Genet. 2007 Dec;15(12):1276-9. doi: 10.1038/sj.ejhg.5201924. Epub 2007 Sep 26. Eur J Hum Genet. 2007. PMID: 17895902

10

Multipotent stem cells from umbilical cord: cord is richer than blood!

Secco M, Zucconi E, Vieira NM, Fogaça LL, Cerqueira A, Carvalho MD, Jazedje T, Okamoto OK, Muotri AR, Zatz M. Secco M, et al. Among authors: zatz m. Stem Cells. 2008 Jan;26(1):146-50. doi: 10.1634/stemcells.2007-0381. Epub 2007 Oct 11. Stem Cells. 2008. PMID: 17932423

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