Clara Sá Miranda: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies

Raül Santamaria, Amparo Chabás, Maria Josep Coll, Clara Sa Miranda, Lluïsa Vilageliu, Daniel Grinberg

Journal:

Year:

2006

Language:

english

File:

PDF, 174 KB

english, 2006

2

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

Pilar Giraldo, Pilar Alfonso, Pilar Irún, Laura Gort, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg, Clara M Sá Miranda, Miguel Pocovi

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 251 KB

english, 2012

3

Sialuria in a Portuguese Girl: Clinical, Biochemical, and Molecular Characteristics

Helena Ferreira, Raili Seppala, Rui Pinto, Marjan Huizing, Esmeralda Martins, Ana Cristina Braga, Lourenco Gomes, Donna M. Krasnewich, M.Clara Sa Miranda, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 224 KB

english, 1999

4

Thermodynamic characterisation of the mutated isoenzyme A of β-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant

Luis F. Pérez, Helena M. Ribeiro, J.Antonio Casal, Rui A. Pinto, M.Clara Sá Miranda, J.Carlos Tutor

Journal:

Clinica Chimica Acta

Year:

1999

Language:

english

File:

PDF, 95 KB

english, 1999

5

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population

Carla Teixeira, António Guimarães, Carlos Bessa, Maria José Ferreira, Lurdes Lopes, Eugénia Pinto, Rui Pinto, Rose-Mary Boustany, Maria Clara Sá Miranda, Maria Gil Ribeiro

Journal:

Journal of Neurology

Year:

2003

Language:

english

File:

PDF, 381 KB

english, 2003

6

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

Labrijn-Marks, Ineke, Somers-Bolman, Galhana M., In ’t Groen, Stijn L. M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara sa, Mavridou, Irene, Michela

Journal:

European Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 718 KB

english, 2019

7

SPIE Proceedings [SPIE SPIE Medical Imaging - Lake Buena Vista, Florida (Saturday 12 February 2011)] Medical Imaging 2011: Image Processing - Automatic segmentation of chromatographic images for region of interest delineation

Mendonça, Ana M., Dawant, Benoit M., Haynor, David R., Sousa, António V., Sá-Miranda, M. Clara, Campilho, Aurélio C.

Year:

2011

Language:

english

File:

PDF, 3.32 MB

english, 2011

8

Gaucher disease in Tunisia: High frequency of the most common mutations

Wafa Cherif, Hadhami Ben Turkia, Faten Ben Rhouma, Imene Riahi, Jalel Chemli, Rym Kefi, Habib Messai, Olga Amaral, Maria Clara Sá Miranda, Catherine Caillaud, Neji Tebib, Marie Françoise Ben Dridi, So

Journal:

Blood Cells, Molecules, and Diseases

Year:

2009

Language:

english

File:

PDF, 115 KB

english, 2009

9

Reduced glucosylceramide in the mouse model of Fabry disease: Correction by successful enzyme replacement therapy

Quinta, Rui, Rodrigues, Daniel, Assunção, Marisa, Macedo, Maria Fatima, Azevedo, Olga, Cunha, Damião, Oliveira, Pedro, Sá Miranda, Maria Clara

Journal:

Year:

2014

Language:

english

File:

PDF, 517 KB

english, 2014

10

Characterization of the Isoenzyme Profile of β-N-Acetylhexosaminidase in the Urine of Newborns

Pérez, Luis F., Martínez, M. Isabel, Ribeiro, Helena M., Pinto, Rui A., Miranda, M. Clara Sá, Tutor, J. Carlos

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

1999

Language:

english

File:

PDF, 122 KB

english, 1999

11

Left Ventricular Noncompaction in a Patient with Fabry Disease: Overdiagnosis, Morphological Manifestation of Fabry Disease or Two Unrelated Rare Conditions in the Same Patient

Azevedo, Olga, Gaspar, Paulo, Sá Miranda, Clara, Cunha, Damião, Medeiros, Rosa, Lourenço, António

Journal:

Year:

2011

Language:

english

File:

PDF, 248 KB

english, 2011

12

Prevalence of Fabryâs disease within hemodialysis patients in Spain

Herrera, Julio, Miranda, Clara Sa

Journal:

Clinical Nephrology

Year:

2014

Language:

english

File:

PDF, 502 KB

english, 2014

13

Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene

Carla P Guimarães, Manuela Lemos, Clara Sá-Miranda, Jorge E Azevedo

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 95 KB

english, 2002

14

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

Labrijn-Marks, Ineke, Somers-Bolman, Galhana M., In ’t Groen, Stijn L. M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara sa, Mavridou, Irene, Michela

Journal:

European Journal of Human Genetics

Year:

2019

File:

PDF, 718 KB

2019

15

Alkaline Density Gradient Floatation of Membranes: Polypeptide Composition of the Mammalian Peroxisomal Membrane

Alexandra M.M. Gouveia, Carlos Reguenga, Márcia E.M. Oliveira, Christoph Eckerskorn, Clara Sá-Miranda, Jorge E. Azevedo

Journal:

Analytical Biochemistry

Year:

1999

Language:

english

File:

PDF, 202 KB

english, 1999

16

Relationships between Serum Markers of Monocyte/Macrophage Activation in Type 1 Gaucher's Disease

Casal, J. Antonio, Lacerda, Lúcia, Pérez, Luis F., Pinto, Rui A., Miranda, M. Clara Sá, Tutor, J. Carlos

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2002

Language:

english

File:

PDF, 114 KB

english, 2002

17

Mutação de novo causadora de doença de Fabry em paciente do sexo feminino

Correia, Emanuel, Vidinha, Joana, Rodrigues, Bruno, Santos, Luís, Moreira, Davide, Garrido, Jesus, Clara Sá Miranda, M., Cabral, Costa, Santos, Oliveira

Journal:

Revista Portuguesa de Cardiologia

Year:

2011

File:

PDF, 225 KB

2011

18

Proliferation, activity, and osteogenic differentiation of bone marrow stromal cells cultured on calcium titanium phosphate microspheres

Cristina C. Barrias, Cristina C. Ribeiro, Meriem Lamghari, Clara Sá Miranda, Mário A. Barbosa

Journal:

Journal of Biomedical Materials Research Part A

Year:

2005

Language:

english

File:

PDF, 460 KB

english, 2005

19

Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings

João Chaves, Idalina Beirão, Andrea Balreira, Paulo Gaspar, Daniel Caiola, M. Clara Sá-Miranda, José L. Lima

Journal:

Year:

2011

Language:

english

File:

PDF, 438 KB

english, 2011

20

Heat shock induces a massive but differential inactivation of SUMO-specific proteases

Manuel P. Pinto, Andreia F. Carvalho, Cláudia P. Grou, José E. Rodríguez-Borges, Clara Sá-Miranda, Jorge E. Azevedo

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2012

Language:

english

File:

PDF, 1.09 MB

english, 2012

21

Left Ventricular Noncompaction in a Patient with Fabry Disease: An Unresolved Challenge

Azevedo, Olga, Gaspar, Paulo, Sá Miranda, Clara, Cunha, Damião, Medeiros, Rosa, Lourenço, António

Journal:

Year:

2011

Language:

english

File:

PDF, 79 KB

english, 2011

22

Conditions affecting the activity of glucocerebrosidase purified fom spleens of control subjects and patients with type 1 Gaucher disease

Johannes M.F.G. Aerts, M.Clara Sa Miranda, Elidabeth M. Brouwer-Kelder, Sonja Van Weely, John A. Barranger, Joseph M. Tager

Journal:

Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology

Year:

1990

Language:

english

File:

PDF, 852 KB

english, 1990

23

Identification of a 24 kDa intrinsic membrane protein from mammalian peroxisomes

Carlos Reguenga, Márcia E.M. Oliveira, Alexandra M.M. Gouveia, Christoph Eckerskorn, Clara Sá-Miranda, Jorge E. Azevedo

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1999

Language:

english

File:

PDF, 430 KB

english, 1999

24

Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC-class II: monocytes from Gaucher disease patients as a model

Andrea Balreira, Lúcia Lacerda, Clara Sá Miranda, Fernando A. Arosa

Journal:

British Journal of Haematology

Year:

2005

Language:

english

File:

PDF, 388 KB

english, 2005

25

High-Yield Expression inEscherichia coliand Purification of Mouse Ubiquitin-Activating Enzyme E1

Andreia F. Carvalho, Manuel P. Pinto, Cláudia P. Grou, Rui Vitorino, Pedro Domingues, Fumiaki Yamao, Clara Sá-Miranda, Jorge E. Azevedo

Journal:

Molecular Biotechnology

Year:

2012

Language:

english

File:

PDF, 381 KB

english, 2012

26

Mammalian Pex14p: membrane topology and characterisation of the Pex14p–Pex14p interaction

Márcia E.M Oliveira, Carlos Reguenga, Alexandra M.M Gouveia, Carla P Guimarães, Wolfgang Schliebs, Wolf-H Kunau, Manuel T Silva, Clara Sá-Miranda, Jorge E Azevedo

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

2002

Language:

english

File:

PDF, 302 KB

english, 2002

27

Invariant natural killer T cells are phenotypically and functionally altered in Fabry disease

Pereira, Catia S., Azevedo, Olga, Maia, M. Luz, Dias, Ana F., Sa-Miranda, Clara, Macedo, M. Fatima

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 846 KB

english, 2013

28

Anomalies in conventional T and invariant natural killer T-cell populations in Fabry mice but not in Fabry patients

Andrea Balreira, Maria F. Macedo, Cristina Girão, Lorena G. Rodrigues, João P. Oliveira, Maria Clara Sá Miranda, Fernando A. Arosa

Journal:

British Journal of Haematology

Year:

2008

Language:

english

File:

PDF, 191 KB

english, 2008

29

T Cell Numbers Relate to Bone Involvement in Gaucher Disease

Lucia Lacerda, Fernando A. Arosa, Rosa Lacerda, José Cabeda, Graça Porto, Olga Amaral, Ana Fortuna, Rui Pinto, Pedro Oliveira, Christine E. McLaren, Clara Sá Miranda, Maria de Sousa

Journal:

Blood Cells, Molecules, and Diseases

Year:

1999

Language:

english

File:

PDF, 109 KB

english, 1999

30

Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders

Ferraz, Maria J., Marques, André R.A., Gaspar, Paulo, Mirzaian, Mina, van Roomen, Cindy, Ottenhoff, Roelof, Alfonso, Pilar, Irún, Pilar, Giraldo, Pilar, Wisse, Patrick, Sá Miranda, Clara, Overkleeft,

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 818 KB

english, 2015

31

Adsorption of a therapeutic enzyme to self-assembled monolayers: effect of surface chemistry and solution pH on the amount and activity of adsorbed enzyme

Cristina C. Barrias, Ma Cristina L. Martins, Ma Clara Sá Miranda, Mário A. Barbosa

Journal:

Year:

2005

Language:

english

File:

PDF, 339 KB

english, 2005

32

The N-terminal Half of the Peroxisomal Cycling Receptor Pex5p is a Natively Unfolded Domain

Andreia F. Carvalho, João Costa-Rodrigues, Isabel Correia, João Costa Pessoa, Tiago Q. Faria, Cristina L. Martins, Marc Fransen, Clara Sá-Miranda, Jorge E. Azevedo

Journal:

Journal of Molecular Biology

Year:

2006

Language:

english

File:

PDF, 326 KB

english, 2006

33

Description of a new mutation in a female patient with Fabry disease

Emanuel Correia, Joana Vidinha, Bruno Rodrigues, Luís Santos, Davide Moreira, Jesus Garrido, M. Clara Sá Miranda, Costa Cabral, Oliveira Santos

Journal:

Revista Portuguesa de Cardiologia (English Edition)

Year:

2011

File:

PDF, 159 KB

2011

34

Sphingolipid signalling mediates mitochondrial dysfunctions and reduced chronological lifespan in the yeast model of Niemann-Pick type C1

Vilaça, Rita, Silva, Elísio, Nadais, André, Teixeira, Vítor, Matmati, Nabil, Gaifem, Joana, Hannun, Yusuf A., Sá Miranda, Maria Clara, Costa, Vítor

Journal:

Molecular Microbiology

Year:

2014

Language:

english

File:

PDF, 7.27 MB

english, 2014

35

Characterisation of two mutations in theABCD1 gene leading to low levels of normal ALDP

Carla P. Guimarães, Manuela Lemos, Isabel Menezes, Teresa Coelho, Clara Sá-Miranda, Jorge E. Azevedo

Journal:

Year:

2001

Language:

english

File:

PDF, 93 KB

english, 2001

36

Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis

Carla P. Guimarães, Clara Sá-Miranda, Jorge E. Azevedo

Journal:

Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 352 KB

english, 2005

37

Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model

Maria Fatima Macedo, Rui Quinta, Catia Sofia Pereira, Maria Clara Sa Miranda

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.05 MB

english, 2012

38

Highly monodisperse Fe3O4@Au superparamagnetic nanoparticles as reproducible platform for genosensing genetically modified organisms

Freitas, Maria Cristina Castro, Couto, Maria Manuela Sá, Barroso, Maria Fátima, Pereira, Clara, de-los-Santos-Álvarez, Noemí, Miranda-Ordieres, Arturo J., Lobo-Castañón, María Jesús, Delerue-Matos, Cr

Journal:

Year:

2016

Language:

english

File:

PDF, 3.85 MB

english, 2016

39

Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study

Paul Harmatz, Roberto Giugliani, Ida Schwartz, Nathalie Guffon, Elisa Leão Teles, M. Clara Sá Miranda, J. Edmond Wraith, Michael Beck, Laila Arash, Maurizio Scarpa, Zi-Fan Yu, Janet Wittes, Kenneth I.

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 276 KB

english, 2006

40

Gaucher Disease: The Origins of the Ashkenazi Jewish N370S and 84GG Acid β-Glucosidase Mutations

George A. Diaz, Bruce D. Gelb, Neil Risch, Torbjoern G. Nygaard, Amos Frisch, Ian J. Cohen, Clara Sa Miranda, Olga Amaral, Irene Maire, Livia Poenaru, Catherine Caillaud, Moishe Weizberg, Pram Mistry,

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 146 KB

english, 2000

41

Screening of high-risk Gaucher disease patients using dried blood spots techniques

Vairo, Filippo, Netto, Cristina, Tirelli, Kristiane Michelin, Siebert, Marina, Burin, Maira, Saraiva-Pereira, Maria Luiza, Balreira, Andrea, Sá Miranda, Maria Clara, Lukacs, Zoltan, Schwartz, Ida Vane

Journal:

Year:

2013

Language:

english

File:

PDF, 127 KB

english, 2013

42

Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations

Ana Marcão, Heidi Simonis, Frank Schestag, M. Clara Sá Miranda, Volkmar Gieselmann

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 132 KB

english, 2003

43

Protein translocation across the peroxisomal membrane

Jorge E. Azevedo, João Costa-Rodrigues, Carla P. Guimarães, Márcia E. Oliveira, Clara Sá-Miranda

Journal:

Cell Biochemistry and Biophysics

Year:

2004

Language:

english

File:

PDF, 258 KB

english, 2004

44

The cytosolic domain of PEX3, a protein involved in the biogenesis of peroxisomes, binds membrane lipids

Manuel P. Pinto, Cláudia P. Grou, Marc Fransen, Clara Sá-Miranda, Jorge E. Azevedo

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2009

Language:

english

File:

PDF, 604 KB

english, 2009

45

Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo

Carla P. Guimarães, Pedro Domingues, Patrick Aubourg, Françoise Fouquet, Aurora Pujol, Gerardo Jimenez-Sanchez, Clara Sá-Miranda, Jorge E. Azevedo

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2004

Language:

english

File:

PDF, 257 KB

english, 2004

46

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

Paul Harmatz, Roberto Giugliani, Ida Vanessa D. Schwartz, Nathalie Guffon, Elisa Leão Teles, M. Clara Sá Miranda, J. Edmond Wraith, Michael Beck, Laila Arash, Maurizio Scarpa, David Ketteridge, John J

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 420 KB

english, 2008

47

Uncoupling between CD1d upregulation induced by retinoic acid and conduritol-B-epoxide and iNKT cell responsiveness

Andrea Balreira, Marco Cavallari, Maria Clara Sá Miranda, Fernando A. Arosa

Journal:

Year:

2010

Language:

english

File:

PDF, 883 KB

english, 2010

48

Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts

Van Weely, Sonja, Van Leeuwen, Marinella B., Jansen, Ineke D.C., De Bruijn, Marianne A.C., Brouwer-Kelder, Elisabeth M., Schram, AndréW., Sa Miranda, M.Clara, Barranger, John A., Petersen, Evelyn M.,

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1991

Language:

english

File:

PDF, 1.02 MB

english, 1991

49

Myelin Lipids Inhibit Axon Regeneration Following Spinal Cord Injury: a Novel Perspective for Therapy

Mar, Fernando M., da Silva, Tiago F., Morgado, Marlene M., Rodrigues, Lorena G., Rodrigues, Daniel, Pereira, Marta I. L., Marques, Ana, Sousa, Vera F., Coentro, João, Sá-Miranda, Clara, Sousa, Mónica

Journal:

Molecular Neurobiology

Year:

2016

Language:

english

File:

PDF, 12.67 MB

english, 2016

50

Kidney histologic alterations in α-Galactosidase-deficient mice

Carmen Valbuena, João Paulo Oliveira, Fátima Carneiro, Sandra Relvas, Mariana Ganhão, M. Clara Sá-Miranda, Lorena G. Rodrigues

Journal:

Virchows Archiv

Year:

2011

Language:

english

File:

PDF, 624 KB

english, 2011

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски