Zobrazeno 1 - 10
of 82
pro vyhledávání: '"Victor Ionasescu"'
Autor:
Gregory Aaen, Israel F. Abroms, Ulrika Ådén, Gunnar Ahlsten, Robert B. Aird, Samiah A. Al-Zaidy, Fred Andermann, Banu Anlar, Alexis Arzimanoglou, Stephen Ashwal, Erika Augustine, Karen Ballaban-Gil, Nigel S. Bamford, Charles F. Barlow, Thomas Bast, David Bates, Robert J. Baumann, Enrico Bertini, Alidor Beya, Michael Blaw, John Bodensteiner, Daniel J. Bonthius, Amy E. Brin, Knut Brockmann, John Keith Brown, Stuart B. Brown, Audrey Christine Brumback, Michelle Bureau, James R. Burke, Annie Bye, Carol Camfield, Peter Camfield, Jaume Campistol Plana, Dee James Canale, Onasis Caneris, Roberto H. Caraballo, Alison Chantal Caviness, Hsiao-Tuan Chao, Catherine A. Chapman, Enrique Chaves-Carballo, Yoon-Jae Cho, Hans-Jürgen Christen, Harry T. Chugani, Giovanni Cioni, David Clark, Edward Robert Scheffer Cliff, Frederick B. Cochran, Bruce H. Cohen, Maynard M. Cohen, Kevin Collins, Athanasios Covanis, Macdonald Critchley, J. Helen Cross, Patricia K. Crumrine, Paolo Curatolo, Pamela A. Davies, Gabrielle deVeber, Darryl C. De Vivo, Linda S. de Vries, Liesbeth De Waele, William DeMyer, Anita Devlin, William B. Dobyns, W. Edwin Dodson, Kirsty Donald, Frank H. Duffy, David W. Dunn, Henry G. Dunn, Leon S. Dure, Paul Richard Dyken, Férechté Encha-Razavi, Gerald Erenberg, Melinda L. Estes, Philippe Evrard, Donna Ferriero, Peggy Ferry, Archie Fine, Edward J. Fine, John S. Fine, Richard S. Finkel, Alain Fischer, Christine Fischer, Lance Fogan, Glenn W. Fowler, Yitzchak Frank, Heather J. Fullerton, Tetsuo Furukawa, Ronald S. Gabriel, Aristea S. Galanopoulou, David Gardner-Medwin, Bhuwan Garg, Pierre Genton, Mark S. George, Thierry Gineste, Christopher C. Giza, Nathalie Goemans, Gerald S. Golden, Jeffrey Alan Golden, Gary W. Goldstein, Christopher Gomez, Manuel R. Gomez, Timothy Gomez, Howard P. Goodkin, Neil Gordon, Pierre Gressens, Helmut Groger, Renzo Guerrini, Christina A. Gurnett, Emanuela Gussoni, Richard Haas, Bengt Hagberg, Jerome S. Haller, Adam L. Hartman, Fred Haruda, Deborah Hirtz, Gwendolyn R. Hogan, Guy M. Hunt, Susan T. Iannaccone, Terrie Eleanor Inder, Victor Ionasescu, Katrien Jansen, Yuwu Jiang, Henry J. Kaminski, Shigehiko Kamoshita, Peter B. Kang, David M. Kaufman, Walter E. Kaufmann, Edward M. Kaye, Peter Kellaway, Rhona S. Kelley, Charles Kennedy, Young-Min Kim, Michael Kirby, Adam Kirton, Eliane Kobayashi, Eric H. Kossoff, Michail Koutroumanidis, Lauren Krupp, Bernadette M. Lange, Douglas J. Lanska, Mary Jo Lanska, Paul D. Larsen, Samuel J. Lassoff, John Laterra, Bernard Lemieux, Nicholas J. Lenn, William J. Logan, Elizabeth Lomax, Lawrence D. Longo, A. Lorris Betz, Bala V. Manyam, Warren A. Marks, E. Wayne Massey, Laszlo J. Mate, Ian McKinlay, William T. McLean, Ailsa McLellan, Mark F. Mehler, Johannes C. Melchior, David J. Michelson, Steven P. Miller, Suzanne L. Miller, J. Gordon Millichap, Robert A. Minns, Eli M. Mizrahi, Ann B. Moser, Solomon L. Moshé, Hiltrud Muhle, Francesco Muntoni, Sakkubai Naidu, Vinodh Narayanan, Nardo Nardocci, Jeffrey J. Neil, Ann Neumeyer, Michael J. Noetzel, Yoshiko Nomura, Douglas R. Nordli, Kathryn North, Yoko Ohtsuka, Finbar J.K. O’Callaghan, Roger J. Packer, Gregory M. Pastores, Marc C. Patterson, Phillip L. Pearl, Michel Philippart, Helena S. Pihko, Gordon Piller, Thomas F. Platz, Annapurna Poduri, Michael A. Pollack, Brenda E. Porter, Michèle Provis, Dietz Rating, Harold Reich, Bernd Remler, Jong M. Rho, Peter Richards, Edward P. Richardson, Sylvia O. Richardson, E. Steve Roach, Arthur L. Rose, Marvin P. Rozear, Lucien J. Rubinstein, Robert S. Rust, Arushi Gahlot Saini, Suzanne Saint-Anne Dargassies, Harvey B. Sarnat, Mohammad Sarwar, Richard Satran, Sanford Schneider, Waltraud Schrank, Rodney C. Scott, Syndi Seinfeld, Duygu Selcen, Nenad Sestan, Steven Shapiro, Elliott H. Sherr, Michael Shevell, Lloyd Shield, Richard L. Sidman, Faye S. Silverstein, Michael Sinnreich, O. Carter Snead, Regan Solomons, Emilio Soria-Duran, Carl E. Stafstrom, E. Steven Roach, Harold Stevens, Hans Michael Strassburg, David A. Stumpf, Thomas Sullivan, Herbert M. Swick, Charles N. Swisher, Takao Takahashi, Ingrid Tein, Laura Tochen, Eva E. Thomas, Alan Thompson, Svinder S. Toor, H. Richard Tyler, Peter Uldall, David K. Urion, Ahsan Moosa Naduvil Valappil, Ronald Van Toorn, Jennifer Vermilion, Doris Vidaver, Betty R. Vohr, Brigitte Vollmer, Joseph J. Volpe, Deborah P. Waber, Mark S. Wainwright, Lucius Waites, Christopher Walsh, Adolf Weindl, Mary Anne Whelan, Larry E. White, Vicky Holets Whittemore, Jo Wilmshurst, Elaine Wirrell, Nicole I. Wolf, Paul Youssef, John Zempel, Huda Y. Zoghbi, Sameer M. Zuberi, Mary Zupanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::22997ec7a984407796f462984d258236
https://doi.org/10.1016/b978-0-12-821635-4.00275-7
https://doi.org/10.1016/b978-0-12-821635-4.00275-7
Autor:
Ranjit Chatterjee, Peter A. Rubenstein, Larry Kaeding, George Kalnitsky, Victor Ionasescu, Susana Braga
Publikováno v:
Acta Neurologica Scandinavica. 64:108-121
A protein that detaches ribosomes from rough microsomal membranes ("detachment factor") (DF) was isolated from the cytosol fraction of rat and human muscle. The procedure of isolation included differential centrifugation, precipitation with ammonium
Publikováno v:
Acta Neurologica Scandinavica. 51:253-267
In vitro protein synthesis of ribosomes extracted from leg muscles of 20 Sprague-Dawley rats denervated 3 and 14 days (high sciatic transections) and 10 control rats was studied. The concentration/mg protein of total ribosomes extracted from the 14-d
Autor:
Victor Ionasescu, Hans Zellweger
Publikováno v:
Acta Neurologica Scandinavica. 50:619-630
Four cases (three sporadic, one familial) of muscular dystrophy (MD) in young girls are presented. The clinical picture was similar to Duchenne MD with onset around two years of age, muscle weakness of pelvic girdle, pseudohypertrophy of the calves (
Autor:
Benoît Funalot, Victor Ionasescu, Eleni Zamba-Papanicolaou, Kyproula Christodoulou, Marinos C. Dalakas, Kumaraswamy Sivakumar, Imke Puls, John L. Beggs, Anthony Antonellis, Nyamkhishig Sambuughin, Eric D. Green, Theodoros Kyriakides, Kenneth H. Fischbeck, Garth A. Nicholson, Lev G. Goldfarb
Publikováno v:
Brain. 128:2304-2314
We describe clinical, electrophysiological, histopathological and molecular features of a unique disease caused by mutations in the glycyl-tRNA synthetase (GARS) gene. Sixty patients from five multigenerational families have been evaluated. The disea
Autor:
Val C. Sheffield, Valerie V. Braden, Tamara A. Kucaba, John Douglas Mcpherson, Charles Searby, Victor Ionasescu, Marco A. Marra, Eric D. Green, Rachel E. Ellsworth
Publikováno v:
Genome Research. 9:568-574
Charcot-Marie-Tooth (CMT) disease is a progressive neuropathy of the peripheral nervous system, typically characterized by muscle weakness of the distal limbs. CMT is noted for its genetic heterogeneity, with four distinct loci already identified for
Autor:
Merle Ruberg, Alexis Brice, N. Ravisé, Victor Ionasescu, Michelle Mayer, Nobutada Tachi, Philippe Latour, Antoon Vandenberghe, Francisco Palau, Nicholas W. Wood, Pierre Bouche, Judith Lopes, Eric LeGuern, Nicolas Lévy
Publikováno v:
Human Molecular Genetics. 7:141-148
The molecular mechanism resulting in the duplication or deletion of a 1.5 Mb region of 17p11.2-p12, associated, respectively, with Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), has been propo
Autor:
Maurizia Rasura, Richard J. Barohn, Gregory T. Carter, Yann Péréon, Victor Ionasescu, Carlo Pozzilli, Claude Gravel, Jean-Marc Bernard, Jean-Thomas Vilquin, Lawrence H. Phillips, N. Passuti, Carlayne E. Jackson, Giovanna Borsellino, Stefania Morino, Jacques P. Tremblay, Giovanni Antonini, Kristin K. Adams, Raynald Roy, Joel Delecrin, Gary S. Gronseth, Enrico Millefiorini, I. Kinoshita
Publikováno v:
Muscle & Nerve. 18:1214-1219
Autor:
André Rosenthal, Monique Jouet, Susan Kenwrick, Victor Ionasescu, Giles Armstrong, Roger E. Stevenson, John MacFarlane, Joan Paterson, Karen Temple, Aida Metzenberg
Publikováno v:
Nature Genetics. 7:402-407
X-linked hydrocephalus, spastic paraplegia type I and MASA syndrome are related disorders with loci in subchromosomal region Xq28. We have previously shown that X-linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecu
Publikováno v:
Ophthalmology. 100:1757-1766
Purpose: The authors describe the clinical, histopathologic, and ultrastructural findings in two eyes obtained at autopsy from a 21-year-old woman with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome). Metho