Kok F - Search Results

1

Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG.

Walker CP, Pessoa ALS, Figueiredo T, Rafferty M, Melo US, Nóbrega PR, Murphy N, Kok F, Zatz M, Santos S, Cho RY. Walker CP, et al. Among authors: kok f. Orphanet J Rare Dis. 2019 Jan 7;14(1):3. doi: 10.1186/s13023-018-0977-1. Orphanet J Rare Dis. 2019. PMID: 30616629 Free PMC 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

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: kok f. 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

7

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

8

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.

9

Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders.

Santos S, Kok F, Weller M, de Paiva FR, Otto PA. Santos S, et al. Among authors: kok f. Genet Mol Biol. 2010 Apr;33(2):220-3. doi: 10.1590/S1415-47572010005000020. Epub 2010 Jun 1. Genet Mol Biol. 2010. PMID: 21637472 Free PMC article.

10

Consanguineous unions and the burden of disability: a population-based study in communities of Northeastern Brazil.

Weller M, Tanieri M, Pereira JC, Almeida Edos S, Kok F, Santos S. Weller M, et al. Among authors: kok f. Am J Hum Biol. 2012 Nov-Dec;24(6):835-40. doi: 10.1002/ajhb.22328. Epub 2012 Oct 5. Am J Hum Biol. 2012. PMID: 23042425

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