Livia Poënaru: search on Z-Library

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1

Transfer of a foreign gene into the brain using adenovirus vectors

Akli, Saïd, Caillaud, Catherine, Vigne, Emmanuelle, Stratford-Perricaudet, Leslie D., Poenaru, Livia, Perricaudet, Michel, Kahn, Axel, Peschanski, Marc R.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 606 KB

1993

2

Metachromatic leukodystrophy: Identification of the first deletion in exon 1 and nine novel point mutations in the arylsulfatase A gene

Ruxandra Draghia, Franck Letourneur, Cristina Drugan, Jeanne Manicom, Christophe Blanchot, Axel Kahn, Livia Poenaru, Catherine Caillaud

Journal:

Year:

1997

Language:

english

File:

PDF, 273 KB

english, 1997

3

Identification of a novel de novo mutation (G373D) in the α-galactosidase A gene (GLA) in a patient affected with Fabry disease

Dominique P. Germain, Dominique Salard, Florence Fellmann, Kemal Azibi, Catherine Caillaud, Marie-Charlotte Bernard, Livia Poenaru

Journal:

Year:

2001

Language:

english

File:

PDF, 19 KB

english, 2001

4

White blood cells in the diagnosis of glycogenosis type II

Livia Poenaru, Jean-Claude Dreyfus

Journal:

Clinical Biochemistry

Year:

1979

Language:

english

File:

PDF, 64 KB

english, 1979

5

First Trimester Prenatal Diagnosis of Metabolic Diseases: A survey in countries from the European Community

Journal:

Prenatal Diagnosis

Year:

1987

Language:

english

File:

PDF, 465 KB

english, 1987

6

Prenatal diagnosis of mucolipidosis type II on first-trimester amniotic fluid

Livia Poenaru, Christine Mezard, Said Akli, Jean-François Oury, Yves Dumez, Joëlle Boue

Journal:

Prenatal Diagnosis

Year:

1990

Language:

english

File:

PDF, 307 KB

english, 1990

7

A null allele frequent in non-Jewish Tay-Sachs patients

Saïd Akli, Jamel Chelly, Axel Kahn, Livia Poenaru

Journal:

Year:

1993

Language:

english

File:

PDF, 1.20 MB

english, 1993

8

Evidence for the presence of β-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique

Sophie Gautron, Livia Poenaru, Joëlle Boue, Hugues Puissant, Jan J. W. Lisman, Jean-Claude Dreyfus

Journal:

Year:

1983

Language:

english

File:

PDF, 798 KB

english, 1983

9

Lysosomal hydrolase activity in chorionic villi and embryonic cells in culture

Livia Poenaru, Laetitia Castelnau, Agnès Choiset, Y. Rouquet, F. Thepot

Journal:

Year:

1985

Language:

english

File:

PDF, 175 KB

english, 1985

10

Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the α-galactosidase A gene and detection of carriers in Fabry disease

Dominique Germain, M. Biasotto, Mario Tosi, Tommaso Meo, Axel Kahn, Livia Poenaru

Journal:

Year:

1996

Language:

english

File:

PDF, 219 KB

english, 1996

11

Adenoviral Vector as a Gene Delivery System into Cultured Rat Neuronal and Glial Cells

Catherine Caillaud, Said Akli, Emmanuelle Vigne, Annette Koulakoff, Michel Perricaudet, Livia Poenaru, Axel Kahn, Yoheved Berwald-Netter

Journal:

European Journal of Neuroscience

Year:

1993

Language:

english

File:

PDF, 1.93 MB

english, 1993

12

Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase α and β

Audrey Arfi, Rivka Zisling, Emmanuel Richard, Lionel Batista, Livia Poenaru, Anthony H. Futerman, Catherine Caillaud

Journal:

Journal of Neurochemistry

Year:

2006

Language:

english

File:

PDF, 401 KB

english, 2006

13

Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations

Drugan, Cristina, Procopciuc, Lucia, Jebeleanu, Gheorghe, Grigorescu-Sido, Paula, Dussau, Jane, Poenaru, Livia, Caillaud, Catherine

Journal:

European Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 72 KB

english, 2002

14

Bicistronic lentiviral vector corrects β-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts

Audrey Arfi, Christophe Bourgoin, Luisa Basso, Carla Emiliani, Brunella Tancini, Vanna Chigorno, Yu-Teh Li, Aldo Orlacchio, Livia Poenaru, Sandro Sonnino, Catherine Caillaud

Journal:

Neurobiology of Disease

Year:

2005

Language:

english

File:

PDF, 415 KB

english, 2005

15

Relationship of eNOS gene variants to diseases that have in common an endothelial cell dysfunction

Constantina Heltianu, Gabriela Costache, Anca Gafencu, Mihaela Diaconu, Mihaela Bodeanu, Carmen Cristea, Kemal Azibi, Livia Poenaru, Maya Simionescu

Journal:

Journal of Cellular and Molecular Medicine

Year:

2005

Language:

english

File:

PDF, 303 KB

english, 2005

16

Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy

Anne-Marie Besançon, Laetitia Castelnau, Henriette Nicolesco, Yves Dumez, Livia Poenaru

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 257 KB

english, 1985

17

Human β-mannosidosis: a 3-year-old boy with speech impairment and emotional instability

Livia Poenaru, Saïd Akli, Francis Rocchiccioli, Fatrica Eydoux, Pierre Zamet

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 357 KB

english, 1992

18

Glycogen-Storage Disease Type II (Acid Maltase Deficiency): Identification of a Novel Small Deletion (delCC482+483) in French Patients

Marc Nicolino, Jean Philippe Puech, Franck Letourneur, Michel Fardeau, Axel Kahn, Livia Poenaru

Journal:

Biochemical and Biophysical Research Communications

Year:

1997

Language:

english

File:

PDF, 91 KB

english, 1997

19

Fabry Disease: Identification of Novel Alpha-Galactosidase A Mutations and Molecular Carrier Detection by Use of Fluorescent Chemical Cleavage of Mismatches

Dominique P. Germain, Livia Poenaru

Journal:

Biochemical and Biophysical Research Communications

Year:

1999

Language:

english

File:

PDF, 171 KB

english, 1999

20

Approach to Gene Therapy of Glycogenosis Type II (Pompe Disease)

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 56 KB

english, 2000

21

High frequency of-β-hexosaminidase deficiency in lymphoblastoid cell lines

Jean-Claude Dreyfus, Jean-Paul Belon, Sophie Gautron, Gilbert Lenoir, Livia Poenaru

Journal:

Biochemical and Biophysical Research Communications

Year:

1984

Language:

english

File:

PDF, 1021 KB

english, 1984

22

Study of a family with both galactosemic and duarte variants of galactose-1-phospho uridyl transferase

Fanny Schapira, Claudine Gregori, Livia Poenaru

Journal:

Biochemical Medicine

Year:

1974

Language:

english

File:

PDF, 588 KB

english, 1974

23

Human amniotic fluid α-glucosidase

Livia Poenaru, Marie-Claude Vinet, Jean-Claude Dreyfus

Journal:

Clinica Chimica Acta

Year:

1981

Language:

english

File:

PDF, 581 KB

english, 1981

24

Effects of antisera raised against native and denatured human α-glucosidase and β-hexosaminidases on native enzyme activity

Anne-Marie Besançon, Sophie Gautron, Livia Poenaru, Jean-Claude Dreyfus

Journal:

Clinica Chimica Acta

Year:

1984

Language:

english

File:

PDF, 464 KB

english, 1984

25

Isolation and characterisation of 4-O-β-D-mannopyranosyl-2-acetamido-2-deoxy-D-glucose from the urine of a patient with mucolipidosis II and its occurrence in normal and pathological urine

Marguerite Lemonnier, Christian Derappe, Livia Poenaru, M.Alan Chester, Arne Lundblad, Sigfrid Svensson, Per-Arne Öckerman

Journal:

Year:

1982

Language:

english

File:

PDF, 316 KB

english, 1982

26

Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency

Claire Wary, Pascal Laforêt, Bruno Eymard, Michel Fardeau, Anne Leroy-Willig, Guillaume Bassez, Jean-Paul Leroy, Catherine Caillaud, Livia Poenaru, Pierre G Carlier

Journal:

Neuromuscular Disorders

Year:

2003

Language:

english

File:

PDF, 193 KB

english, 2003

27

Exhaustive Screening of the Acid β-Glucosidase Gene, by Fluorescence-Assisted Mismatch Analysis Using Universal Primers: Mutation Profile and Genotype/Phenotype Correlations in Gaucher Disease

Dominique P. Germain, Jean-Philippe Puech, Catherine Caillaud, Axel Kahn, Livia Poenaru

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1013 KB

english, 1998

28

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

29

Ten novel mutations in the HEXA gene in non-Jewish Tay — Sachs patients

Akli, Said, Chomel, Jean-Claude, Lacorte, Jean-Marc, Bachner, Lucien, Axel,, Poenaru, Livia

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.11 MB

english, 1993

30

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments

Saïd Akli, Jamel Chelly, Jean-Marc Lacorte, Livia Poenaru, Axel Kahn

Journal:

Year:

1991

Language:

english

File:

PDF, 4.88 MB

english, 1991

31

Alpha glucosidases in white blood cells, with reference to the detection of acid α 1–4 glucosidase deficiency

Jean-Claude Dreyfus, Livia Poënaru

Journal:

Biochemical and Biophysical Research Communications

Year:

1978

Language:

english

File:

PDF, 575 KB

english, 1978

32

Prenatal diagnosis of fucosidosis

Livia Poenaru, Jean-Claude Dreyfus, Joëlle Boue, Henriette Nicolesco, Nicole Ravise, Jacques Bamberger

Journal:

Clinical Genetics

Year:

1976

Language:

english

File:

PDF, 267 KB

english, 1976

33

Antenatal diagnosis in three pregnancies at risk for mannosidosis

Livia Poenaru, Sylvte Girard, François Thepot, Patrick Madelenat, Christiane Huraux-Rendu, , Jean-Claude Dreyfusi

Journal:

Clinical Genetics

Year:

1979

Language:

english

File:

PDF, 311 KB

english, 1979

34

ENZYME ACTIVITY IN FUCOSIDOSIS

Dreyfus, Jean-Claude, Poenaru, Livia

Journal:

Year:

1977

Language:

english

File:

PDF, 146 KB

english, 1977

35

From gene transfer to gene therapy in lysosomal storage diseases affecting the central nervous system

Journal:

Annals of Medicine

Year:

2001

Language:

english

File:

PDF, 963 KB

english, 2001

36

Absence of Hexosaminidase a and B in a Normal Adult

Dreyfus, Jean-Claude, Poenaru, Livia, Svennerholm, Lars

Journal:

Boston Medical and Surgical Journal

Year:

1975

File:

PDF, 906 KB

1975

37

Maladies de Gaucher et de Fabry : aspects biochimiques et génétiques

Caillaud, Catherine, Poenaru, Livia

Journal:

Journal de la Société de Biologie

Year:

2002

File:

PDF, 697 KB

2002

38

Maladies de Gaucher et de Fabry : aspects biochimiques et génétiques

Caillaud, Catherine, Poenaru, Livia

Journal:

Journal de la Société de Biologie

Year:

2002

Language:

french

File:

PDF, 697 KB

french, 2002

39

A comprehensive echocardiographic study of the right ventricular systolic function in pregnant women with inherited thrombophilia

Trasca, Livia Florentina, Poenaru, Elena, Patrascu, Natalia, Cirstoiu, Monica, Vinereanu, Dragos

Journal:

Echocardiography

Year:

2020

File:

PDF, 663 KB

2020