Search Results - Houlden, Henry

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  1. 1
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    The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15 by Saffari, Afshin (Author) , Kellner, Melanie (Author) , Jordan, Catherine (Author) , Rosengarten, Helena (Author) , Mo, Alisa (Author) , Zhang, Bo (Author) , Strelko, Oleksandr (Author) , Neuser, Sonja Anna (Author) , Davis, Marie Y (Author) , Yoshikura, Nobuaki (Author) , Futamura, Naonobu (Author) , Takeuchi, Tomoya (Author) , Nabatame, Shin (Author) , Ishiura, Hiroyuki (Author) , Tsuji, Shoji (Author) , Aldeen, Huda Shujaa (Author) , Cali, Elisa (Author) , Rocca, Clarissa (Author) , Houlden, Henry (Author) , Efthymiou, Stephanie (Author) , Assmann, Birgit (Author) , Yoon, Grace (Author) , Trombetta, Bianca A (Author) , Kivisäkk, Pia (Author) , Eichler, Florian (Author) , Nan, Haitian (Author) , Takiyama, Yoshihisa (Author) , Tessa, Alessandra (Author) , Santorelli, Filippo M (Author) , Sahin, Mustafa (Author) , Blackstone, Craig (Author) , Yang, Edward (Author) , Schüle-Freyer, Rebecca (Author) , Ebrahimi-Fakhari, Darius (Author) ,


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  2. 2
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    WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia by Skorvanek, Matej (Author) , Rektorova, Irena (Author) , Mandemakers, Wim (Author) , Wagner, Matias (Author) , Steinfeld, Robert (Author) , Orec, Laura (Author) , Han, Vladimir (Author) , Pavelekova, Petra (Author) , Lackova, Alexandra (Author) , Kulcsarova, Kristina (Author) , Ostrozovicova, Miriam (Author) , Gdovinova, Zuzana (Author) , Plecko, Barbara (Author) , Brunet, Theresa (Author) , Berutti, Riccardo (Author) , Kuipers, Demy J. S. (Author) , Boumeester, Valerie (Author) , Havrankova, Petra (Author) , Tijssen, M. A. J. (Author) , Kaiyrzhanov, Rauan (Author) , Rizig, Mie (Author) , Houlden, Henry (Author) , Winkelmann, Juliane (Author) , Bonifati, Vincenzo (Author) , Zech, Michael (Author) , Jech, Robert (Author) ,


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  3. 3
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    Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy by Park, Joohyun (Author) , Tucci, Arianna (Author) , Cipriani, Valentina (Author) , Demidov, German (Author) , Rocca, Clarissa (Author) , Senderek, Jan (Author) , Butryn, Michaela (Author) , Velic, Ana (Author) , Lam, Tanya (Author) , Galanaki, Evangelia (Author) , Cali, Elisa (Author) , Vestito, Letizia (Author) , Maroofian, Reza (Author) , Deininger, Natalie (Author) , Rautenberg, Maren (Author) , Admard, Jakob (Author) , Hahn, Gesa-Astrid (Author) , Bartels, Claudius (Author) , Os, Nienke J. H. van (Author) , Horvath, Rita (Author) , Chinnery, Patrick F. (Author) , Tiet, May Yung (Author) , Hewamadduma, Channa (Author) , Hadjivassiliou, Marios (Author) , Tofaris, George K. (Author) , Wood, Nicholas (Author) , Hayer, Stefanie Nicole (Author) , Bender, Friedemann (Author) , Menden, Benita (Author) , Cordts, Isabell (Author) , Klein, Katrin (Author) , Nguyen, Huu Phuc (Author) , Krauss, Joachim K. (Author) , Blahak, Christian (Author) , Strom, Tim M. (Author) , Sturm, Marc (Author) , Warrenburg, Bart Petrus Christoffel van de (Author) , Lerche, Holger (Author) , Maček, Boris (Author) , Synofzik, Matthis (Author) , Ossowski, Stephan (Author) , Timmann-Braun, Dagmar (Author) , Wolf, Marc (Author) , Smedley, Damian (Author) , Rieß, Olaf (Author) , Schöls, Ludger (Author) , Houlden, Henry (Author) , Haack, Tobias (Author) , Hengel, Holger (Author) ,


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  4. 4
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    A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy by Mingardo, Enrico (Author) , Beaman, Glenda (Author) , Grote, Philip (Author) , Nordenskjöld, Agneta (Author) , Newman, William (Author) , Woolf, Adrian S. (Author) , Eckstein, Markus (Author) , Hilger, Alina C. (Author) , Dworschak, Gabriel C. (Author) , Rösch, Wolfgang (Author) , Ebert, Anne-Karolin (Author) , Stein, Raimund (Author) , Brusco, Alfredo (Author) , Di Grazia, Massimo (Author) , Tamer, Ali (Author) , Torres, Federico M. (Author) , Hernandez, Jose L. (Author) , Erben, Philipp (Author) , Maj, Carlo (Author) , Olmos, Jose M. (Author) , Riancho, Jose A. (Author) , Valero, Carmen (Author) , Hostettler, Isabel C. (Author) , Houlden, Henry (Author) , Werring, David J. (Author) , Schumacher, Johannes (Author) , Gehlen, Jan (Author) , Giel, Ann-Sophie (Author) , Buerfent, Benedikt C. (Author) , Arkani, Samara (Author) , Åkesson, Elisabeth (Author) , Rotstein, Emilia (Author) , Ludwig, Michael (Author) , Holmdahl, Gundela (Author) , Giorgio, Elisa (Author) , Berettini, Alfredo (Author) , Keene, David (Author) , Cervellione, Raimondo M. (Author) , Younsi, Nina (Author) , Ortlieb, Melissa (Author) , Oswald, Josef (Author) , Haid, Bernhard (Author) , Promm, Martin (Author) , Neissner, Claudia (Author) , Hirsch, Karin (Author) , Stehr, Maximilian (Author) , Schäfer, Frank-Mattias (Author) , Schmiedeke, Eberhard (Author) , Boemers, Thomas M. (Author) , van Rooij, Iris A. L. M. (Author) , Feitz, Wouter F. J. (Author) , Marcelis, Carlo L. M. (Author) , Lacher, Martin (Author) , Nelson, Jana (Author) , Ure, Benno (Author) , Fortmann, Caroline (Author) , Gale, Daniel P. (Author) , Chan, Melanie M. Y. (Author) , Ludwig, Kerstin U. (Author) , Nöthen, Markus Maria (Author) , Heilmann, Stefanie (Author) , Zwink, Nadine (Author) , Jenetzky, Ekkehart (Author) , Odermatt, Benjamin (Author) , Knapp, Michael (Author) , Reutter, Heiko (Author) ,


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  5. 5
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    Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss by Richard, Elodie M. (Author) , Bakhtiari, Somayeh (Author) , Marsh, Ashley P. L. (Author) , Kaiyrzhanov, Rauan (Author) , Wagner, Matias (Author) , Shetty, Sheetal (Author) , Pagnozzi, Alex (Author) , Nordlie, Sandra M. (Author) , Guida, Brandon S. (Author) , Cornejo, Patricia (Author) , Magee, Helen (Author) , Liu, James (Author) , Norton, Bethany Y. (Author) , Webster, Richard I. (Author) , Worgan, Lisa (Author) , Hakonarson, Hakon (Author) , Li, Jiankang (Author) , Guo, Yiran (Author) , Jain, Mahim (Author) , Blesson, Alyssa (Author) , Rodan, Lance H. (Author) , Abbott, Mary-Alice (Author) , Comi, Anne (Author) , Cohen, Julie S. (Author) , Alhaddad, Bader (Author) , Meitinger, Thomas (Author) , Lenz, Dominic (Author) , Ziegler, Andreas (Author) , Kotzaeridou, Urania (Author) , Brunet, Theresa (Author) , Chassevent, Anna (Author) , Smith-Hicks, Constance (Author) , Ekstein, Joseph (Author) , Weiden, Tzvi (Author) , Hahn, Andreas (Author) , Zharkinbekova, Nazira (Author) , Turnpenny, Peter (Author) , Tucci, Arianna (Author) , Yelton, Melissa (Author) , Horvath, Rita (Author) , Gungor, Serdal (Author) , Hiz, Semra (Author) , Oktay, Yavuz (Author) , Lochmuller, Hanns (Author) , Zollino, Marcella (Author) , Morleo, Manuela (Author) , Marangi, Giuseppe (Author) , Nigro, Vincenzo (Author) , Torella, Annalaura (Author) , Pinelli, Michele (Author) , Amenta, Simona (Author) , Husain, Ralf A. (Author) , Grossmann, Benita (Author) , Rapp, Marion (Author) , Steen, Claudia (Author) , Marquardt, Iris (Author) , Grimmel, Mona (Author) , Grasshoff, Ute (Author) , Korenke, Christoph (Author) , Owczarek-Lipska, Marta (Author) , Neidhardt, John (Author) , Radio, Francesca Clementina (Author) , Mancini, Cecilia (Author) , Claps Sepulveda, Dianela Judith (Author) , McWalter, Kirsty (Author) , Begtrup, Amber (Author) , Crunk, Amy (Author) , Guillen Sacoto, Maria J. (Author) , Person, Richard (Author) , Schnur, Rhonda E. (Author) , Mancardi, Maria Margherita (Author) , Kreuder, Florian (Author) , Striano, Pasquale (Author) , Zara, Federico (Author) , Chung, Wendy K. (Author) , Marks, Warren A. (Author) , van Eyk, Clare L. (Author) , Webber, Dani L. (Author) , Corbett, Mark A. (Author) , Harper, Kelly (Author) , Berry, Jesia G. (Author) , MacLennan, Alastair H. (Author) , Gecz, Jozef (Author) , Tartaglia, Marco (Author) , Salpietro, Vincenzo (Author) , Christodoulou, John (Author) , Kaslin, Jan (Author) , Padilla-Lopez, Sergio (Author) , Bilguvar, Kaya (Author) , Munchau, Alexander (Author) , Ahmed, Zubair M. (Author) , Hufnagel, Robert B. (Author) , Fahey, Michael C. (Author) , Maroofian, Reza (Author) , Houlden, Henry (Author) , Sticht, Heinrich (Author) , Mane, Shrikant M. (Author) , Rad, Aboulfazl (Author) , Vona, Barbara (Author) , Jin, Sheng Chih (Author) , Haack, Tobias B. (Author) , Makowski, Christine (Author) , Hirsch, Yoel (Author) , Riazuddin, Saima (Author) , Kruer, Michael C. (Author) ,


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  6. 6
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    Early-onset phenotype of bi-allelic GRN mutations by Neuray, Caroline (Author) , Sultan, Tipu (Author) , Alvi, Javeira Raza (Author) , Franca, Marcondes C, Jr (Author) , Assmann, Birgit (Author) , Wagner, Matias (Author) , Canafoglia, Laura (Author) , Franceschetti, Silvana (Author) , Rossi, Giacomina (Author) , Santana, Isabel (Author) , Macario, Maria C (Author) , Almeida, Maria R (Author) , Kamate, Mahesh (Author) , Parikh, Sumit (Author) , Elloumi, Houda Zghal (Author) , Murphy, David (Author) , Efthymiou, Stephanie (Author) , Maroofian, Reza (Author) , Houlden, Henry (Author) ,


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  7. 7
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    NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease by Martin, Paige B. (Author) , Kigoshi-Tansho, Yu (Author) , Sher, Roger B. (Author) , Ravenscroft, Gianina (Author) , Stauffer, Jennifer E. (Author) , Kumar, Rajesh (Author) , Yonashiro, Ryo (Author) , Müller, Tina (Author) , Griffith, Christopher (Author) , Allen, William (Author) , Pehlivan, Davut (Author) , Haral, Tamar (Author) , Zenker, Martin (Author) , Howting, Denise (Author) , Schanze, Denny (Author) , Faqeih, Eissa A. (Author) , Almontashiri, Naif A. M. (Author) , Maroofian, Reza (Author) , Houlden, Henry (Author) , Mazaheri, Neda (Author) , Galehdari, Hamid (Author) , Douglas, Ganka (Author) , Posey, Jennifer E. (Author) , Ryan, Monique (Author) , Lupski, James R. (Author) , Laing, Nigel G. (Author) , Joazeiro, Claudio A. P. (Author) , Cox, Gregory A. (Author) ,


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