Kok, Fernando: search on Z-Library

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1

Adult Leukodystrophies: A Step-by-Step Diagnostic Approach

Resende, Lucas Lopes, de Paiva, Anderson Rodrigues Brandão, Kok, Fernando, da Costa Leite, Claudia, Lucato, Leandro Tavares

Journal:

Year:

2019

Language:

english

File:

PDF, 2.88 MB

english, 2019

2

Witch Hazel (Hamamelis virginiana) Fractions and the Importance of Gallate MoietiesElectron Transfer Capacities in Their Antitumoral Properties

Lizárraga, Daneida, Touriño, Sonia, Reyes-Zurita, Fernando J., de Kok, Theo M., van Delft, Joost H., Maas, Lou M., Briedé, Jacco J., Centelles, Josep J., Torres, Josep L., Cascante, Marta

Journal:

Journal of Agricultural and Food Chemistry

Year:

2008

Language:

english

File:

PDF, 367 KB

english, 2008

3

Síndrome de Angelman: causa frequentemente não reconhecida de deficiência mental e epilepsia. relato de caso

Fridman, Cintia, Kok, Fernando, Diament, Aron, Koiffmann, Célia P.

Journal:

Arquivos de Neuro-Psiquiatria

Year:

1997

File:

PDF, 457 KB

1997

4

Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations

de Farias, Allysson Allan, Nunes, Kelly, Lemes, Renan Barbosa, Moura, Ronald, Fernandes, Gustavo Ribeiro, Melo, Uirá Souto, Zatz, Mayana, Kok, Fernando, Santos, Silvana

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 1.29 MB

english, 2018

5

Mutational analysis of patients with X-linked adrenoleukodystrophy

Fernando Kok, Sylvia Neumann, Claude-Olivier Sarde, Siqun Zheng, Kuei-Hua Wu, He-Ming Wei, James Bergin, Paul A. Watkins, Stephen Gould, George Sack, Hugo Moser, Jean-Louis Mandel, Kirby D. Smith

Journal:

Year:

1995

Language:

english

File:

PDF, 1.12 MB

english, 1995

6

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

Walker, Christopher P., Pessoa, Andre L. S., Figueiredo, Thalita, Rafferty, Megan, Melo, Uirá S., Nóbrega, Paulo R., Murphy, Nicholas, Kok, Fernando, Zatz, Mayana, Santos, Silvana, Cho, Raymond Y.

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 1.28 MB

english, 2019

7

Angelman Syndrome: Difficulties in EEG Pattern Recognition and Possible Misinterpretations

Kette D. Valente, Joaquina Q. Andrade, Rosi M. Grossmann, Fernando Kok, Cintia Fridman, Célia P. Koiffmann, Maria J. Marques-Dias

Journal:

Year:

2003

Language:

english

File:

PDF, 433 KB

english, 2003

8

Dynamic Assortment Customization with Limited Inventories

Bernstein, Fernando, Kök, A. Gürhan, Xie, Lei

Journal:

Manufacturing & Service Operations Management

Year:

2015

Language:

english

File:

PDF, 1013 KB

english, 2015

9

Pediatric multiple sclerosis report of 14 cases

Laura Maria de Figueiredo Ferreira Guilhoto, Carlos Alberto Martinez Osório, Lúcia Ribeiro Machado, Cleise Pereira de Castro, Maria Luíza Giraldes Manreza, Dagoberto Callegaro, Fernando Kok, Aron Diam

Journal:

Brain and Development

Year:

1995

Language:

english

File:

PDF, 717 KB

english, 1995

10

Dynamic Cost Reduction through Process Improvement in Assembly Networks

Fernando Bernstein and A. Gürhan Kök

Journal:

Management Science

Year:

2009

Language:

english

File:

PDF, 2.46 MB

english, 2009

11

Transcriptional dynamics of pluripotent stem cell-derived endothelial cell differentiation revealed by single-cell RNA sequencing

McCracken, Ian R, Taylor, Richard S, Kok, Fatma O, de la Cuesta, Fernando, Dobie, Ross, Henderson, Beth E P, Mountford, Joanne C, Caudrillier, Axelle, Henderson, Neil C, Ponting, Chris P, Baker, Andre

Journal:

European Heart Journal

Year:

2019

Language:

english

File:

PDF, 2.08 MB

english, 2019

12

Cooperation in assembly systems: The role of knowledge sharing networks

Bernstein, Fernando, Gürhan Kök, A., Meca, Ana

Journal:

European Journal of Operational Research

Year:

2015

Language:

english

File:

PDF, 553 KB

english, 2015

13

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

Fonseca, Ana Carolina S., Bonaldi, Adriano, Fonseca, Simone A. S., Otto, Paulo A., Kok, Fernando, Bak, Mads, Tommerup, Niels, Vianna-Morgante, Angela M.

Journal:

Molecular Cytogenetics

Year:

2015

Language:

english

File:

PDF, 2.93 MB

english, 2015

14

Immediate Fixed Restoration of the Edentulous Maxilla After Implant Placement

Lyndon Cooper, Ingeborg J. De Kok, Glenn J. Reside, Preeda Pungpapong, Fernando Rojas-Vizcaya

Journal:

Journal of Oral and Maxillofacial Surgery

Year:

2005

Language:

english

File:

PDF, 883 KB

english, 2005

15

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

Amorim, Simone, Heise, Carlos Otto, Santos, Silvana, Macedo-Souza, Lúcia Ines, Zatz, Mayana, Kok, Fernando

Journal:

Year:

2014

Language:

english

File:

PDF, 121 KB

english, 2014

16

Dynamic Cost Reduction Through Process Improvement in Assembly Networks

Bernstein, Fernando, Kök, A. Gürhan

Journal:

Management Science

Year:

2009

Language:

english

File:

PDF, 248 KB

english, 2009

17

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

Lucia I. Macedo-Souza, Fernando Kok, Silvana Santos, Simone C. Amorim, Alessandra Starling, Agnes Nishimura, Karina Lezirovitz, Angelina M. M. Lino, Mayana Zatz

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 442 KB

english, 2005

18

Polymorphisms of APOE and LRP Genes in Brazilian Individuals With Alzheimer Disease

Bahia, Valéria Santoro, Kok, Fernando, Marie, Suely Nagahashi, Shinjo, Sueli Oba, Caramelli, Paulo, Nitrini, Ricardo

Journal:

Alzheimer Disease & Associated Disorders

Year:

2008

Language:

english

File:

PDF, 108 KB

english, 2008

19

Oxidative damage in glutaric aciduria type I patients and the protective effects of l -carnitine treatment

Guerreiro, Gilian, Faverzani, Jéssica, Jacques, Carlos Eduardo Diaz, Marchetti, Desirèe P., Sitta, Angela, de Moura Coelho, Daniella, Kayser, Aline, Kok, Fernando, Athayde, Larissa, Manfredini, Vanusa

Journal:

Journal of Cellular Biochemistry

Year:

2018

Language:

english

File:

PDF, 970 KB

english, 2018

20

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

Paola S. Denora, David Schlesinger, Carlo Casali, Fernando Kok, Alessandra Tessa, Amir Boukhris, Hamid Azzedine, Maria Teresa Dotti, Claudio Bruno, Jeremy Truchetto, Roberta Biancheri, Estelle Fedirko

Journal:

Year:

2009

Language:

english

File:

PDF, 842 KB

english, 2009

21

Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes

Lúcia Inês Macedo-Souza, Fernando Kok, Silvana Santos, Luciana Licinio, Karina Lezirovitz, Natale Cavaçana, Clarissa Bueno, Simone Amorim, André Pessoa, Zodja Graciani, Áurea Ferreira, Abdísio Prazere

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 169 KB

english, 2009

22

Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV

de Mello Monteiro, Carlos, Savelsbergh, Geert, Smorenburg, Ana, Graciani, Zodja, Torriani-Pasin, Camila, de Abreu, Luiz Carlos, Valenti, Vitor, Kok, Fernando

Journal:

Neuropsychiatric Disease and Treatment

Year:

2014

Language:

english

File:

PDF, 598 KB

english, 2014

23

Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment

Ramos, Luiza L. P., Monteiro, Fabiola P., Sampaio, Leticia P. B., Costa, Larissa A., Ribeiro, Mara D. O., Freitas, Erika L., Kitajima, Joao P., Kok, Fernando

Journal:

Clinical Case Reports

Year:

2019

Language:

english

File:

PDF, 148 KB

english, 2019

24

Enterovirus 71 infection and acute neurological disease among children in Brazil (1988–1990)

Sueko Takimoto, Eliseu Alves Waldman, Regina Celia Moreira, Fernando Kok, Francisco de Paula Pinheiro, Sueli Gonsalez Saes, Milford Hatch, Denise Ferreira Correa de Souza, Rita de Cassia Compagnoli Ca

Journal:

Transactions of the Royal Society of Tropical Medicine and Hygiene

Year:

1998

Language:

english

File:

PDF, 599 KB

english, 1998

25

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

Rocha, Eva, Vale, Thiago Cardoso, Kok, Fernando, Pedroso, José Luiz, Barsottini, Orlando G.

Journal:

Year:

2017

Language:

english

File:

PDF, 220 KB

english, 2017

26

Leukodystrophien im Erwachsenenalter: Diagnostik Schritt fÃ¼r Schritt

Lopes Resende, Lucas, Rodrigues BrandÃ£o de Paiva, Anderson, Kok, Fernando, da Costa Leite, Claudia, Tavares Lucato, Leandro

Journal:

Neuroradiologie Scan

Year:

2020

File:

PDF, 2.88 MB

2020

27

Imaging of adult leukodystrophies

Leite, Claudia Costa, Lucato, Leandro Tavares, Santos, Germana Titoneli, Kok, Fernando, Brandão, Anderson Rodrigues, Castillo, Mauricio

Journal:

Arquivos de Neuro-Psiquiatria

Year:

2014

Language:

english

File:

PDF, 1.76 MB

english, 2014

28

Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene

Della Manna, Thais, Battistim, Claudilene, Radonsky, Vanessa, Savoldelli, Roberta D., Damiani, Durval, Kok, Fernando, Pearson, Ewan R., Ellard, Sian, Hattersley, Andrew T., Reis, André F.

Journal:

Arquivos Brasileiros de Endocrinologia & Metabologia

Year:

2008

File:

PDF, 158 KB

2008

29

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

Fernanda Sarquis Jehee, Carla Rosenberg, Ana Cristina Krepischi-Santos, Fernando Kok, Jeroen Knijnenburg, Guy Froyen, Angela M. Vianna-Morgante, John M. Opitz, Maria Rita Passos-Bueno

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 275 KB

english, 2005

30

Pediatric multiple sclerosis: Clinical aspects. Report of 14 cases

Ferreira, Laura M.F., Osorio, Carlos A.M., Castro, Cleise P., Machado, Lúcia R., Manreza, Maria L.A., Callegaro, Dagoberto, Kok, Fernando, Diament, Aron J.

Journal:

Pediatric Neurology

Year:

1992

Language:

english

File:

PDF, 122 KB

english, 1992

31

Rett syndrome in a pair of full sisters

Kok, Fernando, Alves, Rosana S.C., Martinho, Paulo S., Otto, Priscila G., Machado, Lucia R., Diament, Aron, Gonzalez, Claudette H.

Journal:

Pediatric Neurology

Year:

1992

Language:

english

File:

PDF, 128 KB

english, 1992

32

Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up

Galvão, Cláudia R. C., Cavalcante, Priscilla M. A., Olinda, Ricardo, Graciani, Zodja, Zatz, Mayana, Kok, Fernando, Santos, Silvana, Lancman, Selma

Journal:

Year:

2019

File:

PDF, 798 KB

2019

33

Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy

Inuzuka, Luciana Midori, Macedo-Souza, Lucia InÃªs, Della-Ripa, Bruno, Monteiro, Fabiola Paoli, Ramos, Luiza, Kitajima, JoÃ£o Paulo, Garzon, Eliana, Kok, Fernando

Journal:

Brain and Development

Year:

2020

File:

PDF, 1.48 MB

2020

34

In search of a genetic basis for the Rett syndrome

Paulo S. Martinho, Priscila G. Otto, Fernando Kok, Aron Diament, Maria J. Marques-Dias, Claudette Hajaj Gonzalez

Journal:

Year:

1990

Language:

english

File:

PDF, 432 KB

english, 1990

35

X chromosome-inactivation patterns in patients with Rett syndrome

A. C. Victorino Krepischi, Fernando Kok, P. Guimarães Otto

Journal:

Year:

1998

Language:

english

File:

PDF, 102 KB

english, 1998

36

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

Starling, Alessandra, Kok, Fernando, Passos-Bueno, Maria Rita, Vainzof, Mariz, Zatz, Mayana

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 184 KB

english, 2004

37

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

Starling, Alessandra, Kok, Fernando, Passos-Bueno, Maria Rita, Vainzof, Mariz, Zatz, Mayana

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 50 KB

english, 2005

38

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

Varela, Monica Castro, Kok, Fernando, Otto, Paulo Alberto, Koiffmann, Celia Priszkulnik

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 86 KB

english, 2004

39

Toward Online Adaptive Hyperthermia Treatment Planning: Correlation Between Measured and Simulated Specific Absorption Rate Changes Caused by Phase Steering in Patients

Kok, H. Petra, Ciampa, Silvia, de Kroon-Oldenhof, Rianne, Steggerda-Carvalho, Eva J., van Stam, Gerard, Zum Vörde Sive Vörding, Paul J., Stalpers, Lukas J.A., Geijsen, Elisabeth D., Bardati, Fernando,

Journal:

International Journal of Radiation Oncology*Biology*Physics

Year:

2014

Language:

english

File:

PDF, 629 KB

english, 2014

40

Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism

Machado, Camila Oliveira Freitas, Griesi-Oliveira, Karina, Rosenberg, Carla, Kok, Fernando, Martins, Stephanie, Rita Passos-Bueno, Maria, Sertie, Andrea Laurato

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.76 MB

english, 2015

41

Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up

Galvão, Cláudia R. C., Cavalcante, Priscilla M. A., Olinda, Ricardo, Graciani, Zodja, Zatz, Mayana, Kok, Fernando, Santos, Silvana, Lancman, Selma

Journal:

Year:

2019

Language:

english

File:

PDF, 798 KB

english, 2019

42

Two novel mutations in the EIF2AK3 gene in children with Wolcott–Rallison syndrome

André F Reis, Caroline Kannengiesser, Farida Jennane, Thais Della Manna, Nadir Cheurfa, Claire Oudin, Roberta Diaz Savoldelli, Carolina Oliveira, Bernard Grandchamp, Fernando Kok, Gilberto Velho

Journal:

Pediatric Diabetes

Year:

2011

Language:

english

File:

PDF, 482 KB

english, 2011

43

Genotype-phenotype correlation in Brazillian Rett syndrome patients.

Lima, Fernanda T De, Brunoni, Decio, Schwartzman, José Salomão, Pozzi, Maria Cristina, Kok, Fernando, Juliano, Yara, Pereira, Lygia Da Veiga

Journal:

Arquivos de Neuro-Psiquiatria

Year:

2009

File:

PDF, 443 KB

2009

44

Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy

Calhoun, Jeffrey D., Vanoye, Carlos G., Kok, Fernando, George, Alfred L., Kearney, Jennifer A.

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 354 KB

english, 2017

45

Oxidative damage in glutaric aciduria type I patients and the protective effects of l -carnitine treatment

Guerreiro, Gilian, Faverzani, Jéssica, Jacques, Carlos Eduardo Diaz, Marchetti, Desirèe P., Sitta, Angela, de Moura Coelho, Daniella, Kayser, Aline, Kok, Fernando, Athayde, Larissa, Manfredini, Vanusa

Journal:

Journal of Cellular Biochemistry

Year:

2018

File:

PDF, 970 KB

2018

46

Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype

Passos-Bueno, Maria Rita, Suzuki, Oscar T., Armelin-Correa, Lucia M., Sertié, Andréa L., Errera, Flavia I.V., Bagatini, Kelly, Kok, Fernando, Leite, Katia R.M.

Journal:

Anais da Academia Brasileira de Ciências

Year:

2006

Language:

english

File:

PDF, 83 KB

english, 2006

47

Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis

Figueiredo, Thalita, Mendes, Ana P. D., Moreira, Danielle P., Goulart, Ernesto, Oliveira, Danyllo, Kobayashi, Gerson S., Stern, Shani, Kok, Fernando, Marchetto, Maria C., Santos, Renata, Gage, Fred H.

Journal:

Molecular Psychiatry

Year:

2020

File:

PDF, 6.15 MB

2020

48

Does MRS Lactate Peak Correlate with Lactate in the CSF and Blood?

Shibao, Simone, Otaduy, Maria, Kok, Fernando, Leite, Claudia

Journal:

Journal of Pediatric Neuroradiology

Year:

2015

Language:

english

File:

PDF, 193 KB

english, 2015

49

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

Abrahao, Agessandro, Abath Neto, Osório, Kok, Fernando, Zanoteli, Edmar, Santos, Bibiana, Pinto, Wladimir Bocca Vieira de Rezende, Barsottini, Orlando Graziani Povoas, Oliveira, Acary Souza Bulle, Ped

Journal:

Journal of the Neurological Sciences

Year:

2016

Language:

english

File:

PDF, 1.35 MB

english, 2016

50

Cockayne syndrome type A: novel mutations in eight typical patients

Debora R. Bertola, Henian Cao, Lilian M. J. Albano, Daniela P. Oliveira, Fernando Kok, Maria Joaquina Marques-Dias, Chong A. Kim, Robert A. Hegele

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

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