Hyperkeratotic hand eczema: Eczema or not?

por Politiek, Klaziena, Loman, Laura, Pas, Hendri H., Diercks, Gilles F.H., Lemmink, Henny H., Jan, Sabrina Z., van den Akker, Peter C., Bolling, Maria C., Schuttelaar, Marie L.A.
Publicado 2020

The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: analysis of clinical outcomes and tumour characteristics in the Dutch EB Registry

por Harrs, Clara, van den Akker, Peter C., Baardman, Rosalie, Duipmans, José C., Horváth, Barbara, van Kester, Marloes S., Lemmink, Henny H., Rácz, Emoke, Bolling, Marieke C., Diercks, Gilles F.H.
Publicado 2022

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa

por Bremer, Jeroen, van der Heijden, Elisabeth H., Eichhorn, Daryll S., Meijer, Rowdy, Lemmink, Henny H., Scheffer, Hans, Sinke, Richard J., Jonkman, Marcel F., Pasmooij, Anna M.G., Van den Akker, Peter C.
Publicado 2019

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls

por Wadman, Renske I., Stam, Marloes, Jansen, Marc D., van der Weegen, Yana, Wijngaarde, Camiel A., Harschnitz, Oliver, Sodaar, Peter, Braun, Kees P. J., Dooijes, Dennis, Lemmink, Henny H., van den Berg, Leonard H., van der Pol, W. Ludo
Publicado 2016

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy

por Wadman, Renske I, Jansen, Marc D, Stam, Marloes, Wijngaarde, Camiel A, Curial, Chantall A D, Medic, Jelena, Sodaar, Peter, Schouten, Jan, Vijzelaar, Raymon, Lemmink, Henny H, van den Berg, Leonard H, Groen, Ewout J N, van der Pol, W Ludo
Publicado 2020

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa

por Vermeer, Franciscus C., Bremer, Jeroen, Sietsma, Robert J., Sandilands, Aileen, Hickerson, Robyn P., Bolling, Marieke C., Pasmooij, Anna M.G., Lemmink, Henny H., Swertz, Morris A., Knoers, Nine V.A.M., van der Velde, K. Joeri, van den Akker, Peter C.
Publicado 2021

Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy

por Wadman, Renske I., Jansen, Marc D., Curial, Chantall A.D., Groen, Ewout J.N., Stam, Marloes, Wijngaarde, Camiel A., Medic, Jelena, Sodaar, Peter, van Eijk, Kristel R., Huibers, Manon M.H., van Kuik, Joyce, Lemmink, Henny H., van Rheenen, Wouter, Veldink, Jan Herman, van den Berg, Leonard H., van der Pol, W. Ludo
Publicado 2019

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

por van der Welle, Reini E N, Jobling, Rebekah, Burns, Christian, Sanza, Paolo, van der Beek, Jan A, Fasano, Alfonso, Chen, Lan, Zwartkruis, Fried J, Zwakenberg, Susan, Griffin, Edward F, ten Brink, Corlinda, Veenendaal, Tineke, Liv, Nalan, van Ravenswaaij‐Arts, Conny M A, Lemmink, Henny H, Pfundt, Rolph, Blaser, Susan, Sepulveda, Carolina, Lozano, Andres M, Yoon, Grace, Santiago‐Sim, Teresa, Asensio, Cedric S, Caldwell, Guy A, Caldwell, Kim A, Chitayat, David, Klumperman, Judith
Publicado 2021

Germline AGO2 mutations impair RNA interference and human neurological development

por Lessel, Davor, Zeitler, Daniela M., Reijnders, Margot R. F., Kazantsev, Andriy, Hassani Nia, Fatemeh, Bartholomäus, Alexander, Martens, Victoria, Bruckmann, Astrid, Graus, Veronika, McConkie-Rosell, Allyn, McDonald, Marie, Lozic, Bernarda, Tan, Ee-Shien, Gerkes, Erica, Johannsen, Jessika, Denecke, Jonas, Telegrafi, Aida, Zonneveld-Huijssoon, Evelien, Lemmink, Henny H., Cham, Breana W. M., Kovacevic, Tanja, Ramsdell, Linda, Foss, Kimberly, Le Duc, Diana, Mitter, Diana, Syrbe, Steffen, Merkenschlager, Andreas, Sinnema, Margje, Panis, Bianca, Lazier, Joanna, Osmond, Matthew, Hartley, Taila, Mortreux, Jeremie, Busa, Tiffany, Missirian, Chantal, Prasun, Pankaj, Lüttgen, Sabine, Mannucci, Ilaria, Lessel, Ivana, Schob, Claudia, Kindler, Stefan, Pappas, John, Rabin, Rachel, Willemsen, Marjolein, Gardeitchik, Thatjana, Löhner, Katharina, Rump, Patrick, Dias, Kerith-Rae, Evans, Carey-Anne, Andrews, Peter Ian, Roscioli, Tony, Brunner, Han G., Chijiwa, Chieko, Lewis, M. E. Suzanne, Jamra, Rami Abou, Dyment, David A., Boycott, Kym M., Stegmann, Alexander P. A., Kubisch, Christian, Tan, Ene-Choo, Mirzaa, Ghayda M., McWalter, Kirsty, Kleefstra, Tjitske, Pfundt, Rolph, Ignatova, Zoya, Meister, Gunter, Kreienkamp, Hans-Jürgen
Publicado 2020