A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation

Por Bendahhou, Saïd, Cummins, Theodore R., Hahn, Angelika F., Langlois, Sylvie, Waxman, Stephen G., Ptácek, Louis J.
Publicado em 2000

Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity

Por Lozic, Bernarda, Johansson, Stefan, Lovric Kojundzic, Sanja, Markic, Josko, Knappskog, Per Morten, Hahn, Angelika F., Boman, Helge
Publicado no Ann Clin Transl Neurol (2016)

Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

Por Melone, Mariarosa A B, Pellegrino, Michael J, Nolano, Maria, Habecker, Beth A, Johansson, Stefan, Nathanson, Neil M, Knappskog, Per M, Hahn, Angelika F, Boman, Helge
Publicado no Ann Clin Transl Neurol (2014)

Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient

Por Rousseau, François, Gauchat, Jean-François, McLeod, James G., Chevalier, Sylvie, Guillet, Catherine, Guilhot, Florence, Cognet, Isabelle, Froger, Josy, Hahn, Angelika F., Knappskog, Per M., Gascan, Hugues, Boman, Helge
Publicado em 2006

Episodic ataxia type 1: clinical characterization, quality of life and genotype–phenotype correlation

Por Graves, Tracey D., Cha, Yoon-Hee, Hahn, Angelika F., Barohn, Richard, Salajegheh, Mohammed K., Griggs, Robert C., Bundy, Brian N., Jen, Joanna C., Baloh, Robert W., Hanna, Michael G.
Publicado em 2014

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2

Por Fogel, Brent L., Cho, Ellen, Wahnich, Amanda, Gao, Fuying, Becherel, Olivier J., Wang, Xizhe, Fike, Francesca, Chen, Leslie, Criscuolo, Chiara, De Michele, Giuseppe, Filla, Alessandro, Collins, Abigail, Hahn, Angelika F., Gatti, Richard A., Konopka, Genevieve, Perlman, Susan, Lavin, Martin F., Geschwind, Daniel H., Coppola, Giovanni
Publicado em 2014

Familial Cortical Myoclonus with a Mutation in NOL3

Por Russell, Jonathan F., Steckley, Jamie L., Coppola, Giovanni, Hahn, Angelika F.G., Howard, MacKenzie A., Kornberg, Zachary, Huang, Alden, Mirsattari, Seyed M., Merriman, Barry, Klein, Eric, Choi, Murim, Lee, Hsien-Yang, Kirk, Andrew, Nelson-Williams, Carol, Gibson, Gillian, Baraban, Scott C., Lifton, Richard P., Geschwind, Daniel H., Fu, Ying-Hui, Ptáček, Louis J.
Publicado em 2012