Kok F - Search Results

1

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.

Melo US, Bonner D, Kent Lloyd KC, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, de Souza Leite F, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM. Melo US, et al. Among authors: kok f. Genet Med. 2021 Apr;23(4):661-668. doi: 10.1038/s41436-020-01047-z. Epub 2021 Jan 8. Genet Med. 2021. PMID: 33420346 Free article.

2

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: kok f. Eur J Hum Genet. 2004 Dec;12(12):1033-40. doi: 10.1038/sj.ejhg.5201289. Eur J Hum Genet. 2004. PMID: 15367920

3

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: kok f. 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.

4

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: kok f. Ann Neurol. 2005 May;57(5):730-7. doi: 10.1002/ana.20478. Ann Neurol. 2005. PMID: 15852396

5

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: kok f. Neurology. 2005 Dec 13;65(11):1832-3. doi: 10.1212/01.wnl.0000187073.58307.41. Neurology. 2005. PMID: 16344536

6

Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.

Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavaçana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, de Melo AN, Otto PA, Zatz M. Macedo-Souza LI, et al. Among authors: kok f. Ann Hum Genet. 2009 May;73(Pt 3):382-7. doi: 10.1111/j.1469-1809.2009.00507.x. Epub 2009 Mar 4. Ann Hum Genet. 2009. PMID: 19344448

7

Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN).

Graciani Z, Santos S, Macedo-Souza LI, Monteiro CB, Veras MI, Amorim S, Zatz M, Kok F. Graciani Z, et al. Among authors: kok f. Arq Neuropsiquiatr. 2010 Feb;68(1):3-6. doi: 10.1590/s0004-282x2010000100002. Arq Neuropsiquiatr. 2010. PMID: 20339643 Free article.

8

[Could endogamy explain the higher prevalence of disabilities in the population of the Brazilian Northeast?].

dos Santos SC, Melo US, Lopes SS, Weller M, Kok F. dos Santos SC, et al. Among authors: kok f. Cien Saude Colet. 2013 Apr;18(4):1141-50. doi: 10.1590/s1413-81232013000400027. Cien Saude Colet. 2013. PMID: 23670391 Free article. Portuguese.

9

Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome.

Amorim S, Heise CO, Santos S, Macedo-Souza LI, Zatz M, Kok F. Amorim S, et al. Among authors: kok f. Muscle Nerve. 2014 Jan;49(1):131-3. doi: 10.1002/mus.24087. Epub 2013 Oct 25. Muscle Nerve. 2014. PMID: 24123118

10

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).

Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M. Vieira NM, et al. Among authors: kok f. Hum Mol Genet. 2014 Aug 1;23(15):4103-10. doi: 10.1093/hmg/ddu127. Epub 2014 Mar 18. Hum Mol Genet. 2014. PMID: 24647604

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