Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Claudio C. Castellan"'
Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype
Autor:
Heather Woodward, Christine Klein, Claudio C. Castellan, Xandra O. Breakefield, Joanne Leung, Peter P. Pramstaller, Patricia L. Kramer, Monika Scherer, Bernhard Kis, Peter Vieregge, Laurie J. Ozelius, Martin Kann, Curtis C. Page
Publikováno v:
Annals of Neurology. 48:65-71
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b2cf9cf4735012e00c8b04558c122a53
https://doi.org/10.1002/1531-8249(200007)48:1<65::aid-ana10>3.0.co
https://doi.org/10.1002/1531-8249(200007)48:1<65::aid-ana10>3.0.co
Autor:
Xandra O. Breakefield, Laurie J. Ozelius, Christine Klein, Patricia L. Kramer, Claudio C. Castellan, Peter P. Pramstaller
Publikováno v:
Annals of Neurology. 44:394-398
The gene causing early-onset torsion dystonia (DYT1) has recently been identified, and two new dystonia genes, one for adult-onset focal dystonia (DYT7) and one for a mixed dystonia phenotype (DYT6), have been mapped. We evaluated clinically a family
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9f70c8b8d710eb1d6f229fd872c33ae
https://doi.org/10.1002/ana.410440318
https://doi.org/10.1002/ana.410440318
Publikováno v:
Optics letters [Opt Lett] 2020 Jun 15; Vol. 45 (12), pp. 3188-3191.
Autor:
Castellan C; Nanoscience Laboratory, Department of Physics, University of Trento, via Sommarive 14, Trento, 38123, Italy. claudio.castellan@unitn.it., Trenti A; Nanoscience Laboratory, Department of Physics, University of Trento, via Sommarive 14, Trento, 38123, Italy.; Vienna Center for Quantum Science and Technology (VCQ), Faculty of Physics, University of Vienna, Boltzmanngasse 5, 1090, Vienna, Austria., Vecchi C; Nanoscience Laboratory, Department of Physics, University of Trento, via Sommarive 14, Trento, 38123, Italy., Marchesini A; Nanoscience Laboratory, Department of Physics, University of Trento, via Sommarive 14, Trento, 38123, Italy., Mancinelli M; Nanoscience Laboratory, Department of Physics, University of Trento, via Sommarive 14, Trento, 38123, Italy., Ghulinyan M; Centre for Materials and Microsystems, Fondazione Bruno Kessler, via Sommarive 18, Trento, 38123, Italy., Pucker G; Centre for Materials and Microsystems, Fondazione Bruno Kessler, via Sommarive 18, Trento, 38123, Italy., Pavesi L; Nanoscience Laboratory, Department of Physics, University of Trento, via Sommarive 14, Trento, 38123, Italy.
Publikováno v:
Scientific reports [Sci Rep] 2019 Jan 31; Vol. 9 (1), pp. 1088. Date of Electronic Publication: 2019 Jan 31.
Autor:
Castellan C, Chalyan A, Mancinelli M, Guilleme P, Borghi M, Bosia F, Pugno NM, Bernard M, Ghulinyan M, Pucker G, Pavesi L
Publikováno v:
Optics express [Opt Express] 2018 Feb 19; Vol. 26 (4), pp. 4204-4218.
Autor:
Spreiz A; Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria., Guilherme RS, Castellan C, Green A, Rittinger O, Wellek B, Utermann B, Erdel M, Fauth C, Haberlandt E, Kim CA, Kulikowski LD, Meloni VA, Utermann G, Zschocke J, Melaragno MI, Kotzot D
Publikováno v:
The Journal of pediatrics [J Pediatr] 2013 Oct; Vol. 163 (4), pp. 1174-8.e3. Date of Electronic Publication: 2013 Jul 19.
Autor:
Romanelli MG; Docente Corso di Laurea in Infermieristica, Dip. Scienze della Vita e della Riproduzione, Università di Verona., Pressi L, Regele M, Castellan C
Publikováno v:
Assistenza infermieristica e ricerca : AIR [Assist Inferm Ric] 2010 Apr-Jun; Vol. 29 (2), pp. 62-8.
Autor:
Benedicenti F, Castellan C
Publikováno v:
Fertility and sterility [Fertil Steril] 2009 Jan; Vol. 91 (1), pp. 300-1. Date of Electronic Publication: 2008 Aug 09.
Autor:
Tzschach A; Max Planck Institute for Molecular Genetics, Berlin, Germany. tzschach@molgen.mpg.de, Chen W, Erdogan F, Hoeller A, Ropers HH, Castellan C, Ullmann R, Schinzel A
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2008 Jan 15; Vol. 146A (2), pp. 197-203.
Autor:
Valente L; Pierfranco and Luisa Mariani Center for Research on Children's Mitochondrial Disorders, Division of Molecular Neurogenetics, National Neurological Institute 'Carlo Besta,' Milano, Italy., Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2007 Jan; Vol. 80 (1), pp. 44-58. Date of Electronic Publication: 2006 Nov 15.