Hasil Pencarian - Véronique Paquis‐Flucklinger

  • Menampilkan 1 - 14 hasil dari 14
Perbaiki Hasil
  1. 1
    Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives

    Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives oleh Justine Labory, Morgane Fierville, Samira Ait-El-Mkadem, Sylvie Bannwarth, Véronique Paquis-Flucklinger, Véronique Paquis-Flucklinger, Silvia Bottini

    Diterbitkan 2020-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    GenomeMixer and TRUST: Novel bioinformatics tools to improve reliability of Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies

    GenomeMixer and TRUST: Novel bioinformatics tools to improve reliability of Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies oleh David Pratella, Véronique Duboc, Marco Milanesio, John Boudjarane, Stéphane Descombes, Véronique Paquis-Flucklinger, Silvia Bottini

    Diterbitkan 2022-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases

    Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases oleh Morgane Plutino, Annabelle Chaussenot, Cécile Rouzier, Samira Ait-El-Mkadem, Konstantina Fragaki, Véronique Paquis-Flucklinger, Sylvie Bannwarth

    Diterbitkan 2018-04-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

    A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs oleh Konstantina Fragaki, Annabelle Chaussenot, Valerie Serre, Cecile Acquaviva, Sylvie Bannwarth, Cecile Rouzier, Brigitte Chabrol, Veronique Paquis-Flucklinger

    Diterbitkan 2019-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Cardiac dyspnea risk zones in the South of France identified by geo-pollution trends study

    Cardiac dyspnea risk zones in the South of France identified by geo-pollution trends study oleh Fanny Simões, Charles Bouveyron, Damien Piga, Damien Borel, Stéphane Descombes, Véronique Paquis-Flucklinger, Jaques Levraut, Pierre Gibelin, Silvia Bottini

    Diterbitkan 2022-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

    Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes oleh Konstantina Fragaki, Annabelle Chaussenot, Jean-François Benoist, Samira Ait-El-Mkadem, Sylvie Bannwarth, Cécile Rouzier, Charlotte Cochaud, Véronique Paquis-Flucklinger

    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Author Correction: TDP-43 and PINK1 mediate CHCHD10 S59L mutation–induced defects in Drosophila and in vitro

    Author Correction: TDP-43 and PINK1 mediate CHCHD10 S59L mutation–induced defects in Drosophila and in vitro oleh Minwoo Baek, Yun-Jeong Choe, Sylvie Bannwarth, JiHye Kim, Swati Maitra, Gerald W. Dorn, J. Paul Taylor, Veronique Paquis-Flucklinger, Nam Chul Kim

    Diterbitkan 2021-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    TDP-43 and PINK1 mediate CHCHD10 S59L mutation–induced defects in Drosophila and in vitro

    TDP-43 and PINK1 mediate CHCHD10 S59L mutation–induced defects in Drosophila and in vitro oleh Minwoo Baek, Yun-Jeong Choe, Sylvie Bannwarth, JiHye Kim, Swati Maitra, Gerald W. Dorn, J. Paul Taylor, Veronique Paquis-Flucklinger, Nam Chul Kim

    Diterbitkan 2021-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    CHCHD10S59L/+ mouse model: Behavioral and neuropathological features of frontotemporal dementia

    CHCHD10S59L/+ mouse model: Behavioral and neuropathological features of frontotemporal dementia oleh Emmanuelle C. Genin, Pauline Pozzo di Borgo, Thomas Lorivel, Sandrine Hugues, Mélissa Farinelli, Alessandra Mauri-Crouzet, Françoise Lespinasse, Lucas Godin, Véronique Paquis-Flucklinger, Agnès Petit-Paitel

    Diterbitkan 2024-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France.

    Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France. oleh Cornélie Suard, Audrey Flori, Florent Paoli, Anderson Loundou, Virginie Fouilloux, Sabine Sigaudy, Fabrice Michel, Julie Antomarchi, Pamela Moceri, Véronique Paquis-Flucklinger, Claude D'Ercole, Florence Bretelle

    Diterbitkan 2020-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance.

    Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance. oleh Frances R Belmonte, Nikolaos Dedousis, Ian Sipula, Nikita A Desai, Aatur D Singhi, Yanxia Chu, Yingze Zhang, Sylvie Bannwarth, Véronique Paquis-Flucklinger, Lea Harrington, Sruti Shiva, Michael J Jurczak, Robert M O'Doherty, Brett A Kaufman

    Diterbitkan 2019-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

    Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases oleh Emmanuelle C. Genin, Sylvie Bannwarth, Françoise Lespinasse, Bernardo Ortega-Vila, Konstantina Fragaki, Kie Itoh, Elodie Villa, Sandra Lacas-Gervais, Manu Jokela, Mari Auranen, Emil Ylikallio, Alessandra Mauri-Crouzet, Henna Tyynismaa, Anna Vihola, Gaelle Augé, Charlotte Cochaud, Hiromi Sesaki, Jean-Ehrland Ricci, Bjarne Udd, Cristofol Vives-Bauza, Véronique Paquis-Flucklinger

    Diterbitkan 2018-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  13. 13
    CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

    CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis oleh Emmanuelle C Genin, Morgane Plutino, Sylvie Bannwarth, Elodie Villa, Eugenia Cisneros‐Barroso, Madhuparna Roy, Bernardo Ortega‐Vila, Konstantina Fragaki, Françoise Lespinasse, Estefania Pinero‐Martos, Gaëlle Augé, David Moore, Florence Burté, Sandra Lacas‐Gervais, Yusuke Kageyama, Kie Itoh, Patrick Yu‐Wai‐Man, Hiromi Sesaki, Jean‐Ehrland Ricci, Cristofol Vives‐Bauza, Véronique Paquis‐Flucklinger

    Diterbitkan 2015-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  14. 14
    Primary mitochondrial disorders and mimics: Insights from a large French cohort

    Primary mitochondrial disorders and mimics: Insights from a large French cohort oleh Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait‐El‐Mkadem Saadi, Valérie Desquiret‐Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati‐Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean‐Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie‐Laure Martin‐Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva‐Bourdain, Cécile Pagan, Anne‐Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis‐Flucklinger, MitoDiag's Network Collaborators, Vincent Procaccio

    Diterbitkan 2024-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: