Fernando Kok

Fernando Kok

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 Jul 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.

Parkinsonism Relat Disord 2019 May 23;62:148-155. Epub 2018 Dec 23.

Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.

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http://dx.doi.org/10.1016/j.parkreldis.2018.12.024DOI Listing
May 2019

mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.

Neurol Genet 2019 Feb 16;5(1):e306. Epub 2019 Jan 16.

Neurogenetics Unit (A.R.B.d.P., F.F., B.D.R.d.A., I.B., C.L., D.d.C.d.S., F.K.), Neurology Department, Hospital das Clínicas da Universidade de São Paulo, Brazil; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology, London, UK; Leonard Wolfson Experimental Neurology Centre (D.S.L., H.H.), UCL Institute of Neurology, London, UK; Human Genome and Stem Cell Research Center (U.S.M., L.I.M.-S., F.K.), Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, Brazil; and Neuroradiology Section (L.T.L.), Hospital das Clínicas da Universidade de São Paulo, Brazil.

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http://dx.doi.org/10.1212/NXG.0000000000000306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340380PMC
February 2019

Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.

Radiographics 2019 Jan-Feb;39(1):153-168

From the Neuroradiology Section, Instituto de Radiologia (InRad), Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), R. Dr. Ovídio Pires de Campos 75, São Paulo, SP 05403-010, Brazil (L.L.R., C.d.C.L., L.T.L.); and Neurogenetics Unit, Department of Neurology, Hospital das Clínicas da Universidade de São Paulo, São Paulo, Brazil (A.R.B.d.P., F.K.).

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http://pubs.rsna.org/doi/10.1148/rg.2019180081
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http://dx.doi.org/10.1148/rg.2019180081DOI Listing
January 2019

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

Eur J Med Genet 2019 Jan 25. Epub 2019 Jan 25.

Mendelics Genomic Analysis, CEP 04013-000, São Paulo, SP, Brazil; Neurogenetics, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, SP, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.01.014DOI Listing
January 2019

When multiple sclerosis and X-linked adrenoleukodystrophy are tangled: A challenging case.

Neurol Clin Pract 2018 Apr;8(2):156-158

Faculdade de Medicina (ARBdP, FK), Hospital das Clínicas, University of São Paulo; and Neurology Service (CRPF, AMP, CHFC) and Radiology Unit (FSF), Hospital Universitário, State University of Ponta Grossa, Brazil.

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http://dx.doi.org/10.1212/CPJ.0000000000000431DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5914752PMC
April 2018

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.

Mol Cytogenet 2018 5;11:14. Epub 2018 Feb 5.

1Human Genome and Stem Cell Research Center (HUG-CELL), Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Rua do Matao no 277, Cidade Universitaria-Butanta, Sao Paulo, SP 05508-090 Brazil.

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http://dx.doi.org/10.1186/s13039-018-0363-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800070PMC
February 2018

Santos syndrome is caused by mutation in the WNT7A gene.

J Hum Genet 2017 Dec 31;62(12):1073-1078. Epub 2017 Aug 31.

Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, SP, Brazil.

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http://dx.doi.org/10.1038/jhg.2017.86DOI Listing
December 2017

Characterization of a variant associated with autism, intellectual disability, and epilepsy.

Neurol Genet 2017 Dec 11;3(6):e198. Epub 2017 Dec 11.

Department of Pharmacology (J.D.C., C.G.V., A.L.G., J.A.K.), Northwestern University Feinberg School of Medicine, Chicago, IL; Human Genome and Stem Cell Research Center (F.K.), Biosciences Institute, University of Sao Paulo, Brazil; and Mendelics Análise Genomica (F.K.), Sao Paulo, Brazil.

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http://dx.doi.org/10.1212/NXG.0000000000000198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733249PMC
December 2017

Teaching Neuro: Spinocerebellar ataxia type 3 presenting with a cock-walk gait phenotype.

Neurology 2017 10 9;89(15):e192. Epub 2017 Oct 9.

From the Department of Neurology (E.R., J.L.P., O.G.B.), Universidade Federal de São Paulo; Department of Internal Medicine (T.C.V.), Universidade Federal de Juiz de Fora; and Neurogenetics Unit, Department of Neurology (F.K.), and Center for Research of Human Genome and Stem Cell, Biosciences Institute (F.K.), University of São Paulo School of Medicine, Brazil.

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http://dx.doi.org/10.1212/WNL.0000000000004497DOI Listing
October 2017

Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls.

Pediatr Nephrol 2017 06 16;32(6):1089-1092. Epub 2017 Feb 16.

Mendelis Analise Genomica, Sao Paulo, Brazil.

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http://dx.doi.org/10.1007/s00467-017-3615-6DOI Listing
June 2017

One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.

J Neurol Sci 2016 Sep 21;368:352-8. Epub 2016 Jul 21.

Division of General Neurology and Ataxias, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2016.07.048DOI Listing
September 2016

SCA23 and prodynorphin: is it time for gene retraction?

Brain 2016 08 1;139(Pt 8):e42. Epub 2016 May 1.

3 Neurogenetics Unit, Department of Neurology, University of São Paulo School of Medicine, São Paulo, SP, Brazil 4 Mendelics Genomic Analysis, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1093/brain/aww093DOI Listing
August 2016

A novel GFAP mutation in a type II (late-onset) Alexander disease patient.

J Neurol 2016 Apr 25;263(4):821-2. Epub 2016 Feb 25.

Neurogenetics, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, Av Dr Eneas de Carvalho Aguiar, 255, São Paulo, SP, 05403-000, Brazil.

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http://dx.doi.org/10.1007/s00415-016-8065-8DOI Listing
April 2016

Benign hereditary chorea related to NKX2-1 with ataxia and dystonia.

Neurol Genet 2016 Feb 22;2(1):e40. Epub 2015 Dec 22.

Department of Neurology (C.M.d.G., J.L.W.), Massachusetts General Hospital, Boston, MA; Mendelics Genomic Analysis (F.K.), Sao Paulo, Brazil; Child Neurology Unit (E.B.C.), Children's Institute, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil; and Department of Neurology (J.L.W.), Boston Children's Hospital, Boston, MA.

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http://dx.doi.org/10.1212/NXG.0000000000000040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817908PMC
February 2016

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

Hum Mol Genet 2015 Dec 18;24(24):6877-85. Epub 2015 Sep 18.

Northeast Biotechnology Network (RENORBIO), Federal University of Paraiba (UFPB), Joao Pessoa, PB 58051-900, Brazil, Department of Biology, Paraiba State University (UEPB), Campina Grande, PB 58429-500, Brazil.

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http://dx.doi.org/10.1093/hmg/ddv388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296331PMC
December 2015

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation.

Mol Cytogenet 2015 30;8:106. Epub 2015 Dec 30.

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão, 277, 05508-090 São Paulo, SP Brazil.

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http://dx.doi.org/10.1186/s13039-015-0205-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696321PMC
December 2015

Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease.

Neurol Genet 2015 Dec 22;1(4):e30. Epub 2015 Oct 22.

Department of Neurology (J.L.P., O.G.P.B., A.S.B.O.), Federal University of São Paulo, São Paulo, Brazil; Department of Microbiology (C.R.R.R., C.F.M.M.), Institute of Biomedical Sciences, and Center for Human Genome and Stem Cell Research (L.I.M.-S., F.K.), Institute of Biosciences, University of São Paulo, São Paulo, Brazil; Mendelics Genomic Analysis (V.D.M., F.K.), São Paulo, Brazil; Department of Neurology (W.M.), University of São Paulo School of Medicine, Ribeirão Preto, Brazil; and Department of Neurology (F.K.), University of São Paulo School of Medicine, São Paulo, Brazil.

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http://dx.doi.org/10.1212/NXG.0000000000000030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811384PMC
December 2015

Here comes the sun: the era of genetics.

Authors:
Fernando Kok

Arq Neuropsiquiatr 2015 Nov;73(11):895-6

Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/0004-282X20150166DOI Listing
November 2015

Chronic stage of Marchiafava-Bignami disease.

Arq Neuropsiquiatr 2015 Oct 11;73(10):890. Epub 2015 Aug 11.

Hospital das Clínicas, Universidade de São Paulo, São Paulo, SP, BR.

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http://dx.doi.org/10.1590/0004-282X20150103DOI Listing
October 2015

Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome.

Arq Neuropsiquiatr 2015 May;73(5):466-8

Departamento de Neurologia, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/0004-282X20150021DOI Listing
May 2015

Fatty acid 2-hydroxylase deficiency: clinical features and brain iron accumulation.

Neurology 2015 Mar;84(9):960-1

From the Universidade Federal de São Paulo (J.L.P., A.A., O.G.P.B., A.S.B.O.); Hospital Israelita Albert Einstein (B.W.H.); and Mendelics Genomic Analysis (F.K.), São Paulo, Brazil.

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http://dx.doi.org/10.1212/WNL.0000000000001316DOI Listing
March 2015

Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.

J Med Genet 2015 Feb 19;52(2):123-7. Epub 2014 Dec 19.

Northeast Biotechnology Network (RENORBIO), Federal University of Paraiba (UFPB), Joao Pessoa, PB, Brazil Department of Biology, Paraiba State University (UEPB), Campina Grande, PB, Brazil.

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http://dx.doi.org/10.1136/jmedgenet-2014-102793DOI Listing
February 2015

Leukodystrophy with premature ovarian failure: think on vanishing white matter disease (VWMD).

Arq Neuropsiquiatr 2015 Jan 1;73(1):65. Epub 2015 Jan 1.

Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, Sao Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/0004-282X20140183DOI Listing
January 2015

Imaging of adult leukodystrophies.

Arq Neuropsiquiatr 2014 Aug;72(8):625-32

Radiology Department, School of Medicine, University of North Carolina, Chapel Hill, North Carolina, United States.

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http://dx.doi.org/10.1590/0004-282x20140095DOI Listing
August 2014

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

Muscle Nerve 2014 Jan 25;49(1):131-3. Epub 2013 Oct 25.

Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil.

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http://dx.doi.org/10.1002/mus.24087DOI Listing
January 2014

Angelman syndrome caused by deletion: a genotype-phenotype correlation determined by breakpoint.

Epilepsy Res 2013 Jul 23;105(1-2):234-9. Epub 2013 Jan 23.

Laboratory of Clinical Neurophysiology, Institute and Department of Psychiatry, University of São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1016/j.eplepsyres.2012.12.005DOI Listing
July 2013

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

Cien Saude Colet 2013 Apr;18(4):1141-50

Departamento de Biologia, Universidade Estadual da Paraíba, Campina Grande, PB, 58109-753.

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http://dx.doi.org/10.1590/s1413-81232013000400027DOI Listing
April 2013

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

Am J Hum Biol 2012 Nov-Dec;24(6):835-40. Epub 2012 Oct 5.

Department of Biology, Centre for Community Genetic Research, Universidade Estadual da Paraíba, Campina Grande, Paraíba, Brazil.

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http://dx.doi.org/10.1002/ajhb.22328DOI Listing
March 2013

7q36 deletion and 9p22 duplication: effects of a double imbalance.

Mol Cytogenet 2013 Jan 15;6(1). Epub 2013 Jan 15.

Research and Development Institute, Fleury Group, Av, Gal Valdomiro de Lima, 508, São Paulo, SP, Zip Code: 04344-070, Brazil.

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http://dx.doi.org/10.1186/1755-8166-6-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3557211PMC
January 2013

Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs.

Arq Neuropsiquiatr 2011 Jun;69(3):424-30

Department of Neurology, University of São Paulo, Brazil. eduardoaquinoneves@ hotmail.com

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http://dx.doi.org/10.1590/s0004-282x2011000400003DOI Listing
June 2011

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.

Epilepsia 2010 Dec 30;51(12):2457-60. Epub 2010 Sep 30.

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02742.xDOI Listing
December 2010

Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.

Genet Test Mol Biomarkers 2010 Oct 19;14(5):611-6. Epub 2010 Aug 19.

Departamento de Genética e Biologia Evolutiva, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1089/gtmb.2010.0011DOI Listing
October 2010

MR spectroscopy detects lipid peaks in cerebrotendinous xanthomatosis.

AJNR Am J Neuroradiol 2010 Aug 11;31(7):1347-9. Epub 2010 Feb 11.

Department of Neurology, Clinics Hospital of the University of Sao Paulo, School of Medicine, Sao Paulo, Brazil.

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http://dx.doi.org/10.3174/ajnr.A1885DOI Listing
August 2010

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

Genet Mol Biol 2010 Apr 1;33(2):220-3. Epub 2010 Jun 1.

Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP Brazil.

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http://dx.doi.org/10.1590/S1415-47572010005000020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036858PMC
April 2010

Joubert syndrome: large clinical variability and a unique neuroimaging aspect.

Arq Neuropsiquiatr 2010 Apr;68(2):273-6

Department of Child Neurology, Clinical Hospital, University of São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2010000200023DOI Listing
April 2010

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

Arq Neuropsiquiatr 2010 Feb;68(1):3-6

Department of Neurology, University of São Paulo School of Medicine, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2010000100002DOI Listing
February 2010

Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis.

Arq Neuropsiquiatr 2009 Dec;67(4):1054-6

Department of Radiology, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2009000600017DOI Listing
December 2009

Autosomal recessive ataxias: 20 types, and counting.

Arq Neuropsiquiatr 2009 Dec;67(4):1143-56

Outpatient Neurogenetics Clinic, Hospital das Clínicas, School of Medicine, University of São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2009000600036DOI Listing
December 2009

MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.

Eur J Med Genet 2009 Sep-Oct;52(5):333-6. Epub 2009 Jul 9.

Center for Human Genome Research, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120900075
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http://dx.doi.org/10.1016/j.ejmg.2009.07.001DOI Listing
November 2009

Genotype-phenotype correlation in Brazillian Rett syndrome patients.

Arq Neuropsiquiatr 2009 Sep;67(3A):577-84

Médica Geneticista Clínico, Doutorado em Ciências, Centro de Genética Médica, Universidade Federal de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2009000400001DOI Listing
September 2009

Apolipoprotein E genotype is related to nitric oxide production in platelets.

Cell Biochem Funct 2008 Dec;26(8):852-8

Department of Clinical Chemistry and Toxicology, Faculty of Pharmaceutical Sciences, University of São Paulo, Brazil.

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http://dx.doi.org/10.1002/cbf.1516DOI Listing
December 2008

Determination of serum methylmalonic acid by alkylative extraction and liquid chromatography coupled to tandem mass spectrometry.

Anal Biochem 2008 Oct 20;381(1):67-73. Epub 2008 Jun 20.

Fleury Medicine and Health, São Paulo 04344-070, Brazil.

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http://linkinghub.elsevier.com/retrieve/pii/S000326970800411
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http://dx.doi.org/10.1016/j.ab.2008.06.023DOI Listing
October 2008

Seroprevalence of NMO-IgG antibody in Brazilian patients with neuromyelitis optica.

Arq Neuropsiquiatr 2008 Jun;66(2B):295-7

Department of Neurology, School of Medicine, University of São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2008000300001DOI Listing
June 2008

Polymorphisms of APOE and LRP genes in Brazilian individuals with Alzheimer disease.

Alzheimer Dis Assoc Disord 2008 Jan-Mar;22(1):61-5

Behavioral and Cognitive Neurology Unit, Department of Neurology, Hospital das Clínicas, University of São Paulo School of Medicine, São Paulo, Brazil.

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http://dx.doi.org/10.1097/WAD.0b013e31815a9da7DOI Listing
May 2008

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

Eur J Hum Genet 2007 Dec 26;15(12):1276-9. Epub 2007 Sep 26.

Departamento de Genética e Biologia Evolutiva, Human Genome Research Center, Bioscience Institute, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1038/sj.ejhg.5201924DOI Listing
December 2007

Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat.

Mov Disord 2007 Apr;22(6):866-70

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/mds.21347DOI Listing
April 2007

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

J Biol Chem 2007 Mar 21;282(12):9150-61. Epub 2007 Jan 21.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1074/jbc.M609304200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1851921PMC
March 2007

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Pediatrics 2006 Nov 2;118(5):e1550-62. Epub 2006 Oct 2.

Division of Clinical and Metabolic Genetics, Hospital for Sick Children, 555 University Ave, Toronto, Ontario, Canada M5G 1X8.

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http://dx.doi.org/10.1542/peds.2006-0588DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2910078PMC
November 2006

Cockayne syndrome type A: novel mutations in eight typical patients.

J Hum Genet 2006 25;51(8):701-5. Epub 2006 Jul 25.

Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of São Paulo, Sao Paulo, Brazil.

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http://link.springer.com/content/pdf/10.1007/s10038-006-0011
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http://www.nature.com/doifinder/10.1007/s10038-006-0011-7
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http://dx.doi.org/10.1007/s10038-006-0011-7DOI Listing
October 2006

Mutations in collagen 18A1 and their relevance to the human phenotype.

An Acad Bras Cienc 2006 Mar 8;78(1):123-31. Epub 2006 Mar 8.

Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociências, USP, 05508-900 São Paulo, SP, Brazil.

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http://dx.doi.org//S0001-37652006000100012DOI Listing
March 2006

Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13.

Arch Neurol 2006 Jan;63(1):122-8

Laboratory of Clinical Neurophysiology, Institute and Department of Psychiatry, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1001/archneur.63.1.122DOI Listing
January 2006

Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns.

Epilepsy Res 2005 Dec 14;67(3):163-8. Epub 2005 Oct 14.

Laboratory of Clinical Neurophysiology, Institute and Department of Psychiatry, University of São Paulo Medical School, R. Jesuíno Arruda 901 Apt. 51, 04532-082 São Paulo, SP, Brazil.

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http://dx.doi.org/10.1016/j.eplepsyres.2005.09.003DOI Listing
December 2005

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

Am J Med Genet A 2005 Dec;139(3):221-6

Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.30991DOI Listing
December 2005

Vitamin B12 deficiency in infancy as a cause of developmental regression.

Brain Dev 2005 Dec;27(8):592-4

Child Neurology Unit, Pediatric Department, University of São Paulo Medical School, São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.braindev.2005.02.005DOI Listing
December 2005

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

Ann Neurol 2005 May;57(5):730-7

Department of Biology, Institute of Biological Sciences and Center for Study of Human Genome, University of São Paulo, Brazil.

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http://dx.doi.org/10.1002/ana.20478DOI Listing
May 2005

[Pitfalls in the clinical and electroencephalographic diagnosis of ceroid lipofuscinosis].

Arq Neuropsiquiatr 2005 Mar 13;63(1):93-6. Epub 2005 Apr 13.

Divisão de Clínica Neurológica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2005000100017DOI Listing
March 2005

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

Eur J Hum Genet 2004 Dec;12(12):1033-40

Human Genome Research Center, Department of Biology, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1038/sj.ejhg.5201289DOI Listing
December 2004

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.

Eur J Hum Genet 2004 Dec;12(12):987-92

Centro de Estudos do Genoma Humano, Department of Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.

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http://www.nature.com/articles/5201264
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http://dx.doi.org/10.1038/sj.ejhg.5201264DOI Listing
December 2004