Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

Ferland, Russell J, Eyaid, Wafaa, Collura, Randall V, Tully, Laura D, Hill, R Sean, Al-Nouri, Doha, Al-Rumayyan, Ahmed, Topcu, Meral, Gascon, Generoso, Bodell, Adria, Shugart, Yin Yao, Ruvolo, Maryellen, Walsh, Christopher A·2004·Nature Genetics
DOI 10.1038/ng1419

Cited by (409)

Items 401–409 of 409

  1. INPP5E interactome reveals novel connections to growth factor signaling
    Raquel Martin-Morales, Pablo Barbeito, Belén Sierra‐Rodero, Lucía Jiménez, Maria Schrøder Holm, Andrea Grijalva-Bravo, Darío Cilleros-Rodríguez, Lena K. Ebert, Matilde Cortabarría Fernandez, Lotte Bang Pedersen et al. · 2026 · Cell Communication and Signaling
  2. The role of serotoninergic neurons in amyotrophic lateral sclerosis
    Hajer El Oussini · 2016 · theses.fr (ABES)
  3. Conditional truncation of the FUS protein in mice : a new animal model of the ALS/FTD continuum
    Jelena Scekic‐Zahirovic · 2016 · theses.fr (ABES)
  4. Génétique des mouvements en miroir congénitaux : recherche de nouvelles causes génétiques et étude in vitro de l’impact des variants RAD51 et NTN1
    Oriane Trouillard · 2023 · theses.fr (ABES)
  5. Neuroglobin expression and function: lessons from single cell transcriptome data and a mouse knock-out model
    Daniel Andre, Andrej Fabrizius, Michelle Hagmaier, Ari Waisman, Kurt Reifenberg, Thorsten Burmester, Stefan Reuss, Thomas Hankeln · 2026 · Neuroscience
  6. Neddylation is required for cerebellar development in mice
    Yu-Bing Wang, Yuan-Yuan Yong, Xin-Ren Yu, Pin-Xi Xie, Ning‐Ning Song, Xuan Zhao, Yu‐Qiang Ding, Lei Zhang · 2026 · Molecular Neurobiology
  7. Diagnóstico molecular da síndrome de Joubert associada a uma rara variante genética no gene TCTN1
    Stella Küchler, Laís Carvalho, Felício Freitas Netto · 2026 · Residência Pediátrica
  8. Exclusion de liaison génétique au locus SPAX2 de cas canadiens-français d’ataxie spastique
    Emmanuelle Poirier St-Georges · 2011
  9. The cerebellum
    Gasser M. Hathout, Tanya Ferguson · 2008 · Cambridge University Press eBooks