Publications scientifiques

Publications

• 2007

  • Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up.

    • Pascale Ribaï
    • Françoise Pousset
    • Marie-Laure Tanguy
    • Sophie Rivaud-Pechoux
    • Isabelle Le Ber
    • Franchesca Gasparini
    • Perrine Charles
    • Anne-Sophie Béraud
    • Michele Schmitt
    • Michel Koenig
    • Alain Mallet
    • Alexis Brice
    • Alexandra Dürr

    Archives of Neurology -Chigago- ; Volume: 64 ; Page: 558-64

    HAL DOI

  • Abnormal sperm in mice lacking the Taf7l gene.

    • Yong Cheng
    • Mariano G Buffone
    • Martin Kouadio
    • Mary Goodheart
    • David C Page
    • George L Gerton
    • Irwin Davidson
    • Peijing Jeremy Wang

    Molecular and Cellular Biology ; Volume: 27 ; Page: 2582-9

    HAL DOI

  • The testis-specific human protein RBMY recognizes RNA through a novel mode of interaction.

    • Lenka Skrisovska
    • Richard Stefl
    • Sushma-Nagaraja Grellscheid
    • Liliane Kister
    • Philipp Wenter
    • David J Elliott
    • James Stevenin
    • Frédéric H-T Allain

    EMBO Reports ; Volume: 8 ; Page: 372-9

    HAL DOI

  • Distinct Roles for the XPB/p52 and XPD/p44 Subcomplexes of TFIIH in Damaged DNA Opening during Nucleotide Excision Repair

    • Frédéric Coin
    • Valentyn Oksenych
    • Jean-Marc Egly

    Molecular Cell ; Volume: 26 ; Page: 245-256

    HAL DOI

  • Light-inducible and clock-controlled expression of MAP kinase phosphatase 1 in mouse central pacemaker neurons.

    • Masao Doi
    • Sehyung Cho
    • Irene Yujnovsky
    • Jun Hirayama
    • Nicolas Cermakian
    • Andrew C B Cato
    • Paolo Sassone-Corsi

    Journal of Biological Rhythms ; Volume: 22 ; Page: 127-39

    HAL DOI

  • XPG Stabilizes TFIIH, Allowing Transactivation of Nuclear Receptors: Implications for Cockayne Syndrome in XP-G/CS Patients

    • Shinsuke Ito
    • Isao Kuraoka
    • Pierre Chymkowitch
    • Emmanuel Compe
    • Arato Takedachi
    • Chie Ishigami
    • Frédéric Coin
    • Jean-Marc Egly
    • Kiyoji Tanaka

    Molecular Cell ; Volume: 26 ; Page: 231-243

    HAL DOI

  • Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

    • Isabelle Perrault
    • Nathalie Delphin
    • Sylvain Hanein
    • Sylvie Gerber
    • Jean-Louis Dufier
    • Olivier Roche
    • Sabine Defoort-Dhellemmes
    • Hélène Dollfus
    • Elisa Fazzi
    • Arnold Munnich
    • Josseline Kaplan
    • Jean-Michel Rozet

    Human Mutation ; Volume: 28 ; Page: 416

    HAL DOI

  • When neuropediatrics meets odontology.

    • Agnès Bloch-Zupan

    Neuropediatrics ; Volume: 38 ; Page: 57-8

    HAL DOI

  • Suppression of non-specific transcription by the proteasome in embryonic stem cells, Le protéasome limite la transcription dans les cellules souches embryonnaires

    • Henrietta Szutorisz
    • Niall Dillon
    • Laszlo Tora

    Médecine/Sciences ; Volume: 23 ; Page: 351-353

    HAL DOI

  • Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome.

    • A. Bloch-Zupan
    • J. Stachtou
    • D. Emmanouil
    • B. Arveiler
    • D. Griffiths
    • D. Lacombe

    American Journal of Medical Genetics Part A ; Volume: 143 ; Page: 570-3

    HAL DOI