Zobrazeno 1 - 10
of 15
pro vyhledávání: '"C C, Castellan"'
Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype
Autor:
C, Klein, P P, Pramstaller, B, Kis, C C, Page, M, Kann, J, Leung, H, Woodward, C C, Castellan, M, Scherer, P, Vieregge, X O, Breakefield, P L, Kramer, L J, Ozelius
Publikováno v:
Annals of neurology. 48(1)
A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism. Here we present a large pedigree from South Ty
Autor:
Fanin M, Benedicenti F, Fritegotto C, Nascimbeni AC, Peterle E, Stanzial F, Cristofoletti A, Castellan C, Angelini C
Publikováno v:
Clinical genetics [Clin Genet] 2012 Dec; Vol. 82 (6), pp. 601-2. Date of Electronic Publication: 2012 Apr 09.
Autor:
Souza SF; School of Dentistry, Federal University of Maranhão, São Luiz, MA 65085-580, Brazil. sosocarvalho@usp.br, Bombana AC, Francci C, Gonçalves F, Castellan C, Braga RR
Publikováno v:
International endodontic journal [Int Endod J] 2009 Oct; Vol. 42 (10), pp. 867-73.
Autor:
Di Pierro E; Internal Medicine, Maggiore Policlinico Foundation IRCCS-University of Milan, Milano, Italy. elena.dipierro@unimi.it, Brancaleoni V, Stanzial F, Benedicenti F, Castellan C, Cappellini MD
Publikováno v:
Human genetics [Hum Genet] 2009 Aug; Vol. 126 (2), pp. 339.
Autor:
Rossi E; Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy., Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O
Publikováno v:
Journal of medical genetics [J Med Genet] 2008 Mar; Vol. 45 (3), pp. 147-54. Date of Electronic Publication: 2007 Nov 15.
Autor:
Wissinger B; Molekulargenetisches Labor, Abt Pathophysiologie des Sehens und Neuroophthalmologie, Tübingen, Germany. wissinger@uni-tuebingen.de wissinger@uni-tuebingen.de, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2001 Oct; Vol. 69 (4), pp. 722-37. Date of Electronic Publication: 2001 Aug 30.
Autor:
Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Dagna Bricarelli F, Bonaglia M, Bedeschi M, Borgatti R
Publikováno v:
Journal of medical genetics [J Med Genet] 2001 Jun; Vol. 38 (6), pp. 417-20.
Autor:
Kotzot D; Institute for Medical Genetics, University of Zürich, Zürich, Switzerland. Kotzot@medgen.unizh.ch, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzanowska K, Dutly F, Gutkowska A, Karaüzüm SB, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A
Publikováno v:
Journal of medical genetics [J Med Genet] 2000 Apr; Vol. 37 (4), pp. 281-6.
Autor:
Riegel M; Institute of Medical Genetics, University of Zurich, Switzerland., Castellan C, Balmer D, Brecevic L, Schinzel A
Publikováno v:
American journal of medical genetics [Am J Med Genet] 1999 Jan 29; Vol. 82 (3), pp. 249-53.
Autor:
Merienne K; Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, Illkirch, France., Jacquot S, Trivier E, Pannetier S, Rossi A, Scott C, Schinzel A, Castellan C, Kress W, Hanauer A
Publikováno v:
Journal of medical genetics [J Med Genet] 1998 Nov; Vol. 35 (11), pp. 890-4.