Diatom extraction: A new technique with heated H2O2. A technical note

Autor: Francesca Marezza, Alessia Bertani, Giovanni Lanzi, Cristina Marchetti, Rossana Cecchi, Andrea Lusetti

Publikováno v: Legal Medicine. 50:101861

The best method of diatom identification in animal and human tissues is still an important discussion topic, in terms of effectiveness and reliability. In this technical note, authors propose a new method of extraction of diatoms using heated hydroge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f7849b7aa50496514d70f7ebaea6f1
https://doi.org/10.1016/j.legalmed.2021.101861

The Rorschach test and Gilles de la Tourette’s syndrome: A pilot case–control study

Autor: Lucia Viganò, Giovanni Lanzi, Umberto Balottin, Cristiano Termine, Giorgio Rossi, Marta Nanti, Silvia Salini, Maura Rossi

Publikováno v: Brain and Development. 31:657-665

Background: To date only three studies, all lacking a control group, have investigated the personality style underlying tic disorders or Tourette's syndrome (TS), using the projective Rorschach test. Despite the recent controversy about its proper us

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0d02b671f47e02ff336a2c2ebfa8a9d
https://doi.org/10.1016/j.braindev.2008.10.003

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Autor: Colin D. Ferrie, Johannes S H Vles, Cyril Goizet, Dominique Roland, Alec Aeby, Simon Attard Montalto, Bruce E. Hayward, Yanick J. Crow, Pierre Landrieu, Yong-hui Jiang, Stavit A. Shalev, John P McClure, Willam S Benko, Carlos A. Bacino, Kevin Rostasy, Pam Tomlin, John Dean, Andrew P. Jackson, Catherine Dery, Helen Cox, Peter Corry, John Tolmie, Daniel R. Carvalho, Sameer M. Zuberi, Sunita Seal, Bruno Barroso, Federica Vagnarelli, Margo L. Whiteford, Sally Ann Lynch, Giovanni Lanzi, Hans-Jurgen Christen, Enrico Bertini, Suzanna G.M. Frints, Gyan P Sinha, Bernhard Weschke, Amy Kao, Ken K. Nischal, Kate Chandler, Raphael Schiffmann, Ben C.J. Hamel, Simona Orcesi, Andrew Green, Blanca Gener, Pierre Lebon, Daphna Marom, R. Curtis Rogers, Gillian I. Rice, Ian M. Carr, Agnes Guet, C Sierra Corcoles, Raoul C.M. Hennekam, Sabine Scholl-Bürgi, Teresa Patrick, Claire F Taylor, Dieter Kotzot, Mary D. King, Evangeline Wassmer, Claudine De Praeter, Nathalie Van der Aa, Christopher J. Burke, Edward Blair, Wilfried Kratzer, Han G. Brunner, Marianne Till, Marie-Laure Moutard, Lieven Lagae, Adeline Vanderver, Frances M. Cowan, Andrea Leitch, Julie S. Prendiville, Didier Lacombe, Michèl A.A.P. Willemsen, E G Hermione Lyall, Thomas Voit, Rekha Parmar, John R. Østergaard, Tracy A Briggs, John H. Livingston, Doriette Soler, Andrew J. Kornberg, Marie Husson, Marjo S. van der Knaap, Francoise Goutieres, Enza Maria Valente, Arvid Heiberg, Helen Kingston, John B.P. Stephenson, Joerg Klepper, Serge B. Melançon, Peter Baxter, Amparo Sanchis, Louise Brueton, Andreas Zankl, Elisa Fazzi, Rasieka Jayatunga, David T. Bonthron, Michael J. Lyons, Stefano D'Arrigo, Uta Tacke, Elisabeth Rosser, Carsten Bergmann, Agathe Roubertie, Kim Flintoff, Ronen Spiegel, Rudy Van Coster, Roberta Biancheri, Tiong Yang Tan, Corinne De Laet, Jean Aicardi, Sarina G. Kant, Magnhild Rasmussen, Robert McWilliam, Charles Marques Lourenço, Leena D Mewasingh, Angels García-Cazorla, Rafael Artuch, Nenad Blau, Ming K. Lim

Publikováno v: American journal of human genetics, 81(4), 713-725. Cell Press
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
American Journal of Human Genetics, 81, 713-25
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H-J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Dery, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutieres, F, Green, A J, Guet, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y-H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, van der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M-L, Nischal, K K, Ostergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Burgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tan, T Y, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutieres syndrome ', American Journal of Human Genetics, vol. 81, no. 4, pp. 713-25 . https://doi.org/10.1086/521373
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Déry, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutières, F, Green, A J, Guët, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, Van Der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M L, Nischal, K K, Østergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Bürgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tiong, Y T, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van Der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutières syndrome ', American journal of human genetics, vol. 81, no. 4, pp. 713-725 . https://doi.org/10.1086/521373
American Journal of Human Genetics, 81, 4, pp. 713-25
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H-J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Dery, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutieres, F, Green, A J, Guet, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y-H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, van der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M-L, Nischal, K K, Østergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Burgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tan, T Y, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutieres syndrome. ', American Journal of Human Genetics, vol. 81, no. 4, pp. 713-25 . https://doi.org/10.1086/521373
The American journal of human genetics

Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-27T11:22:37Z No. of bitstreams: 0Bitstream added on 2014-05-27T14:33:38Z : No. of bitstreams: 1 2-s2.0-35349019691.pdf: 4144234 bytes, checksum: 9b86846640bd2e66375c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83e581aa8ee7db9b20b5d85e809f6f00
https://doi.org/10.1086/521373

A pilot study of a ketogenic diet in patients with Lafora body disease

Autor: Pierangelo Veggiotti, Silvana Franceschetti, Anna Tagliabue, Simona Bertoli, Laura Canafoglia, Simonetta Cardinali, Giovanni Lanzi

Publikováno v: Epilepsy Research. 69:129-134

Purpose Lafora body disease (LBD) is severe and rapidly worsening progressive myoclonus epilepsy (PME), not treatable with specific therapy. In LBD patients, typical polyglucosan accumulations result from alterations of proteins involved in the regul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5b9b8cc17996153cb81ebfac0c3ee40
https://doi.org/10.1016/j.eplepsyres.2006.01.007

The Ketogenic diet: from molecular mechanisms to clinical effects

Autor: Pierangelo Veggiotti, Anna Tagliabue, John M. Freeman, Giovanni Lanzi, Emilio Perucca

Publikováno v: Epilepsy Research. 68:145-180

Recent years have witnessed an increased interest from pediatric neurologists, neuropediatricians, epileptologists and general neurologists in the use of the ketogenic diet (KD) for the management of refractory epilepsies, particularly in children an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::665b1c9ab5a3b51ae0254985b4d68eb7
https://doi.org/10.1016/j.eplepsyres.2005.10.003