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513 results on '"Hausmanowa-Petrusewicz I"'

18. Mutations in the Sarcoglycan Genes in Patients with Myopathy

Author

Duggan, David J., Gorospe, J. Rafael, Fanin, Marina, Hoffman, Eric P., Angelini, Carrado, Pegoraro, E., Noguchi, S., Ozawa, E., Pendlebury, W., Waclawik, A.J., Duenas, D.A., Hausmanowa-Petrusewicz, I., Fedzianska, A., Bean, S.C., Haller, J.S., Bodensteiner, J., Greco, C.M., Pestronk, A., Berardinelli, A., Gelinas, D.F., Abram, H., and Kuncl, R.W.

Published
1997

22. Mutation Screening of Charcot-Marie-Tooth Patients in Poland

Author

Kochañski, A., Timmerman, Vincent, Jêdrzejowska, H., Ryniewicz, B., Löfgren, Ann, De Vriendt, Els, Wouters, V., Van Broeckhoven, Christine, Latos-Bieleñska, A., and Hausmanowa-Petrusewicz, I.

Subjects
Genetic Markers, Male, Pediatrics, medicine.medical_specialty, business.industry, General Neuroscience, Chromosome Mapping, Connexins, General Biochemistry, Genetics and Molecular Biology, Pedigree, History and Philosophy of Science, Charcot-Marie-Tooth Disease, Mutation screening, medicine, Humans, Female, Genetic Testing, Poland, business, Myelin P0 Protein, Myelin Proteins, Polymorphism, Restriction Fragment Length, Chromosomes, Human, Pair 17
Published
1999

28. Age-related change in duration of afterhyperpolarization of human motoneurones

Author

Piotrkiewicz, M, Kudina, L, Mierzejewska, J, Jakubiec, M, and Hausmanowa-Petrusewicz, I

Subjects
Adult, Male, Motor Neurons, Aging, Adolescent, Electromyography, Action Potentials, Middle Aged, Child, Preschool, Humans, Female, Child, Muscle, Skeletal, Neuroscience, Aged, Muscle Contraction
Abstract

Motor unit (MU) potentials were recorded from brachial biceps of healthy subjects aged 5.5-79 years. The subjects were subdivided into young (5.5-19 year) and adult (37.5-79 year) groups, between which single MU discharge characteristics were compared. Firing rates were in the ranges of 8.3-21.7 s(-1) (mean 12.87 s(-1)) and 5.9-18.7 s(-1) (mean 11.08 s(-1)) for young and adult groups, respectively. Standard deviations (s.d.) of interspike intervals (ISIs) were in the range 4.84-11.57 ms (mean 8.39 ms) for the young group and 4.26-12.23 ms (mean 7.76 ms) for the adult group. Both differences were statistically significant (P0.001). Special attention was paid to the previously developed method of ISI variability analysis, which enabled the comparison of MUs with respect to afterhyperpolarization (AHP) duration of their motoneurones (MNs). The results show that AHP duration increases gradually with increasing age, which is in line with the transformation of muscle properties towards a slower phenotype. This transformation seems to be a continuous process, covering the entire lifespan of a human being, from childhood to senescence. The results presented here are significant for their insight into the ageing process of the neuromuscular system. The age-related change in AHP duration has not been investigated previously in human studies and has been met with ambiguous results in animal studies.

Published
2007

33. Mutations in the sarcoglycan genes in patients with myopathy

Author

Duggan, Dj, Gorospe, Jr, Fanin, Marina, Hoffman, Ep, Angelini, Corrado, Pegoraro, Elena, Mcnally, E, Bonneman, Cg, Kunkel, Lm, Noguchi, S, Ozawa, E, Pendlenbury, W, Oechler, H, Waclawik, A, Duenas, Da, Hutchison, T, HAUSMANOWA PETRUSEWICZ, I, Fidianska, A, Bean, Sc, Haller, Js, Bodensteiner, J, Greco, C, Penstronk, A, Berardinelli, A, Gelinas, Df, Abram, H, and Kuncl, Rw

Published
1997

35. Poster Session 2: Thursday 8 December 2011, 14:00-18:00 * Location: Poster Area

Author

Luo, X., primary, Fang, F., additional, Sun, J., additional, Xie, J., additional, Lee, A., additional, Zhang, Q., additional, Yu, C., additional, Breithardt, O., additional, Schiessl, S., additional, Schmid, M., additional, Seltmann, M., additional, Klinghammer, L., additional, Zeissler, C., additional, Kuechle, M., additional, Daniel, W., additional, Ege, M., additional, Guray, U., additional, Guray, Y., additional, Demirkan, B., additional, Kisacik, H., additional, Kim, S.-E., additional, Hong, J.-Y., additional, Lee, J.-H., additional, Park, D.-G., additional, Han, K.-R., additional, Oh, D.-J., additional, Tufekcioglu, O., additional, Cozma, D. C., additional, Mornos, C., additional, Ionac, A., additional, Petrescu, L., additional, Tutuianu, C., additional, Dragulescu, S. I., additional, Guimaraes, L., additional, Tavares, G., additional, Rodrigues, A., additional, Nagamatsu, C., additional, Fischer, C., additional, Vieira, M., additional, Oliveira, W., additional, Wilberg, T., additional, Cordovil, A., additional, Morhy, S., additional, Muraru, D., additional, Peluso, M., additional, Dal Bianco, L., additional, Beraldo, M., additional, Solda', E., additional, Tuveri, M., additional, Cucchini, U., additional, Al Mamary, A., additional, Badano, L., additional, Iliceto, S., additional, Pizzuti, A., additional, Mabritto, B., additional, Derosa, C., additional, Tomasello, A., additional, Rovere, M., additional, Parrini, I., additional, Conte, M., additional, Lareva, N., additional, Govorin, A., additional, Cooper, R., additional, Sharif, J., additional, Somauroo, J. D., additional, Hung, J. D., additional, Porcelli, V., additional, Skevington, R., additional, Shahzad, A., additional, Scott, S., additional, Lindqvist, P., additional, Soderberg, S., additional, Gonzalez, M., additional, Tossavainen, E., additional, Henein, M., additional, Nciri, N., additional, Saad, H., additional, Nawas, S., additional, Ali, A., additional, Youssufzay, A., additional, Safi, A., additional, Faruk, S., additional, Yurdakul, S., additional, Erdemir, V., additional, Tayyareci, Y., additional, Yildirimturk, O., additional, Memic, K., additional, Aytekin, V., additional, Gurel, M., additional, Aytekin, S., additional, Przewlocka-Kosmala, M., additional, Cielecka-Prynda, M., additional, Mysiak, A., additional, Kosmala, W., additional, Pescariu, S., additional, Cozma, D., additional, Mornos, A., additional, Dragulescu, S., additional, Maurea, N., additional, Tocchetti, C. G., additional, Coppola, C., additional, Quintavalle, C., additional, Rea, D., additional, Barbieri, A., additional, Piscopo, G., additional, Arra, C., additional, Condorelli, G., additional, Iaffaioli, R., additional, Dalen, H., additional, Thorstensen, A., additional, Moelmen, H., additional, Torp, H., additional, Stoylen, A., additional, Augustine, D., additional, Basagiannis, C., additional, Suttie, J., additional, Cox, P., additional, Aitzaz, R., additional, Lewandowski, A., additional, Lazdam, M., additional, Holloway, C., additional, Becher, H., additional, Leeson, P., additional, Radovanovic, S., additional, Djokovic, A., additional, Todic, B., additional, Zdravkovic, M., additional, Zaja-Simic, M., additional, Banicevic, S., additional, Lisulov-Popovic, D., additional, Krotin, M., additional, Grapsa, J., additional, O'regan, D., additional, Dawson, D., additional, Durighel, G., additional, Howard, L., additional, Gibbs, J., additional, Nihoyannopoulos, P., additional, Tulunay Kaya, C., additional, Kilickap, M., additional, Kurklu, H., additional, Ozbek, N., additional, Koca, C., additional, Kozluca, V., additional, Esenboga, K., additional, Erol, C., additional, Kusmierczyk-Droszcz, B., additional, Kowalik, E., additional, Niewiadomska, J., additional, Hoffman, P., additional, Satendra, M., additional, Sargento, L., additional, Lopes, S., additional, Longo, S., additional, Lousada, N., additional, Palma Reis, R., additional, Chillo, P., additional, Rieck, A., additional, Lwakatare, J., additional, Lutale, J., additional, Gerdts, E., additional, Bonapace, S., additional, Molon, G., additional, Targher, G., additional, Rossi, A., additional, Lanzoni, L., additional, Canali, G., additional, Campopiano, E., additional, Zenari, L., additional, Bertolini, L., additional, Barbieri, E., additional, Hristova, K., additional, Vladiomirova-Kitova, L., additional, Katova, T., additional, Nikolov, F., additional, Nikolov, P., additional, Georgieva, S., additional, Simova, I., additional, Kostova, V., additional, Kuznetsov, V. A., additional, Krinochkin, D. V., additional, Chandraratna, P. A., additional, Pak, Y. A., additional, Zakharova, E. H., additional, Plusnin, A. V., additional, Semukhin, M. V., additional, Gorbatenko, E. A., additional, Yaroslavskaya, E. I., additional, Bedetti, G., additional, Gargani, L., additional, Scalese, M., additional, Pizzi, C., additional, Sicari, R., additional, Picano, E., additional, Reali, M., additional, Canali, E., additional, Cimino, S., additional, Francone, M., additional, Mancone, M., additional, Scardala, R., additional, Boccalini, F., additional, Hiramoto, Y., additional, Frustaci, A., additional, Agati, L., additional, Savino, K., additional, Lilli, A., additional, Bordoni, E., additional, Riccini, C., additional, Ambrosio, G., additional, Silva, D., additional, Cortez-Dias, N., additional, Carrilho-Ferreira, P., additional, Jorge, C., additional, Silva-Marques, J., additional, Magalhaes, A., additional, Santos, L., additional, Ribeiro, S., additional, Pinto, F., additional, Nunes Diogo, A., additional, Kinova, E., additional, Zlatareva, N., additional, Goudev, A., additional, Bonanad, C., additional, Lopez-Lereu, M., additional, Monmeneu, J., additional, Bodi, V., additional, Sanchis, J., additional, Nunez, J., additional, Chaustre, F., additional, Llacer, A., additional, Ermacora, D., additional, Peluso, D., additional, Di Lazzari, M., additional, Meimoun, P., additional, Elmkies, F., additional, Benali, T., additional, Boulanger, J., additional, Zemir, H., additional, Clerc, J., additional, Luycx-Bore, A., additional, Velasco Del Castillo, M. S., additional, Cacicedo Fernandez De Bobadilla, A., additional, Onaindia Gandarias, J., additional, Telleria Arrieta, M., additional, Zugazabeitia Irazabal, G., additional, Quintana Raczka, O., additional, Rodriguez Sanchez, I., additional, Romero Pereiro, A., additional, Laraudogoitia Zaldumbide, E., additional, Lekuona Goya, I., additional, Bonello, B., additional, El Louali, E., additional, Fouilloux, V., additional, Kammache, I., additional, Ovaert, C., additional, Kreitmann, B., additional, Fraisse, A., additional, Migliore, R., additional, Adaniya, M., additional, Barranco, M., additional, Miramont, G., additional, Tamagusuku, H., additional, Alassar, A., additional, Sharma, R., additional, Marciniak, A., additional, Valencia, O., additional, Abdulkareem, N., additional, Jahangiri, M., additional, Jander, N., additional, Kienzle, R., additional, Gohlke-Baerwolf, C., additional, Gohlke, H., additional, Neumann, F.-J., additional, Minners, J., additional, Valbuena, S., additional, De Torres, F., additional, Lopez, T., additional, Gomez, J. J., additional, Guzman, G., additional, Dominguez, F., additional, Refoyo, E., additional, Moreno, M., additional, Lopez-Sendon, J. L., additional, Ancona, R., additional, Comenale Pinto, S., additional, Caso, P., additional, Di Salvo, G., additional, Severino, S., additional, Cavallaro, M., additional, Calabro, R., additional, Enache, R., additional, Piazza, R., additional, Roman-Pognuz, A., additional, Popescu, B., additional, Calin, A., additional, Beladan, C., additional, Purcarea, F., additional, Nicolosi, G., additional, Ginghina, C., additional, Savu, O., additional, Rosca, M., additional, Jurcut, R., additional, Serban, M., additional, Dorobantu, L., additional, Donal, E., additional, Mascle, S., additional, Thebault, C., additional, Veillard, D., additional, Hamonic, H., additional, Leguerrier, A., additional, Corbineau, H., additional, Popa, B. A., additional, Diena, M., additional, Bogdan, A., additional, Benea, D., additional, Lanzillo, G., additional, Casati, V., additional, Novelli, E., additional, Popa, A., additional, Cerin, G., additional, Gual Capllonch, F., additional, Teis, A., additional, Lopez Ayerbe, J., additional, Ferrer, E., additional, Vallejo, N., additional, Gomez Denia, E., additional, Bayes Genis, A., additional, Spethmann, S., additional, Schattke, S., additional, Baldenhofer, G., additional, Stangl, V., additional, Laule, M., additional, Baumann, G., additional, Stangl, K., additional, Knebel, F., additional, Labata, C., additional, Garcia Alonso, C., additional, Gual, F., additional, Nunez Aragon, R., additional, Sousa, C., additional, Vasile, A. I., additional, Dorobantu, M., additional, Iorgulescu, C., additional, Bogdan, S., additional, Constantinescu, D., additional, Caldararu, C., additional, Tautu, O., additional, Vatasescu, R., additional, Badran, H., additional, Elnoamany, M. F., additional, Ayad, M., additional, Elshereef, A., additional, Farhan, A., additional, Nassar, Y., additional, Yacoub, M., additional, Costabel, J., additional, Avegliano, G., additional, Elissamburu, P., additional, Thierer, J., additional, Castro, F., additional, Huguet, M., additional, Frangi, A., additional, Ronderos, R., additional, Prinz, C., additional, Van Buuren, F., additional, Faber, L., additional, Bitter, T., additional, Bogunovic, N., additional, Burchert, W., additional, Horstkotte, D., additional, Kasprzak, J. D., additional, Smialowski, A., additional, Rudzinski, T., additional, Lipiec, P., additional, Krzeminska-Pakula, M., additional, Wierzbowska-Drabik, K., additional, Trzos, E., additional, Kurpesa, M., additional, Motoki, H., additional, Hana, M., additional, Marwick, T., additional, Allan, K., additional, Vazquez-Alvarez, M., additional, Medrano Lopez, C., additional, Granja Da Silva, S., additional, Marcos, C., additional, Rodriguez-Ogando, A., additional, Alvarez, M., additional, Camino, M., additional, Centeno, M., additional, Maroto, E., additional, Feltes Guzman, G., additional, Serra Tomas, V., additional, Acevedo, O., additional, Calli, A., additional, Barba, M., additional, Pintos, G., additional, Valverde, V., additional, Zamorano Gomez, J., additional, Marchel, M., additional, Kochanowski, J., additional, Piatkowski, R., additional, Madej, A., additional, Filipiak, K., additional, Hausmanowa-Petrusewicz, I., additional, Opolski, G., additional, Malev, E., additional, Zemtsovsky, E., additional, Reeva, S., additional, Timofeev, E., additional, Pshepiy, A., additional, Mihaila, S., additional, Rimbas, R., additional, Mincu, R., additional, Dulgheru, R., additional, Mihaila, R., additional, Badiu, C., additional, Cinteza, M., additional, Vinereanu, D., additional, Lira, E., additional, Lebihan, D., additional, Monaco, C., additional, Ruiz Ortiz, M., additional, Mesa, D., additional, Delgado, M., additional, Romo, E., additional, Pena, M., additional, Puentes, M., additional, Santisteban, M., additional, Lopez Granados, A., additional, Arizon Del Prado, J., additional, Suarez De Lezo, J., additional, Tsai, W.-C., additional, Shih, J.-Y., additional, Huang, T.-S., additional, Liu, Y.-W., additional, Huang, Y.-Y., additional, Tsai, L.-M., additional, Cho, E., additional, Choi, K., additional, Kwon, B., additional, Kim, D., additional, Jang, S., additional, Park, C., additional, Jung, H., additional, Jeon, H., additional, Youn, H., additional, Kim, J., additional, Rieck, A. E., additional, Cramariuc, D., additional, Lonnebakken, M., additional, Lund, B., additional, Moceri, P., additional, Doyen, D., additional, Cerboni, P., additional, Ferrari, E., additional, Li, W., additional, Goncalves, S., additional, Vinhais De Sousa, G., additional, Almeida, A. G., additional, Hernandez Garcia, C., additional, De La Rosa Hernandez, A., additional, Arroyo Ucar, E., additional, Jorge Perez, P., additional, Barragan Acea, A., additional, Lacalzada Almeida, J., additional, Jimenez Rivera, J., additional, Duque Garcia, A., additional, Laynez Cerdena, I., additional, Arhipov, O., additional, Sumin, A. N., additional, Campens, L., additional, Renard, M., additional, Trachet, B., additional, Segers, P., additional, De Paepe, A., additional, De Backer, J., additional, Purvis, J. A., additional, Sharma, D., additional, Hughes, S. M., additional, Marek, D., additional, Vindis, D., additional, Kocianova, E., additional, Taborsky, M., additional, Yoon, H., additional, Kim, K., additional, Ahn, Y., additional, Chung, M., additional, Cho, J., additional, Kang, J., additional, Rha, W., additional, Ozcan, O., additional, Sezgin Ozcan, D., additional, Candemir, B., additional, Aras, M., additional, Dincer, I., additional, Atak, R., additional, Gianturco, L., additional, Turiel, M., additional, Atzeni, F., additional, Tomasoni, L., additional, Bruschi, E., additional, Epis, O., additional, Sarzi-Puttini, P., additional, Aggeli, C., additional, Poulidakis, E., additional, Felekos, I., additional, Sideris, S., additional, Dilaveris, P., additional, Gatzoulis, K., additional, Stefanadis, C., additional, Roszczyk, N., additional, Sobczak, M., additional, Peruga, J., additional, Krecki, R., additional, Kasprzak, J., additional, Ishii, K., additional, Suyama, T., additional, Kataoka, K., additional, Furukawa, A., additional, Nagai, T., additional, Maenaka, M., additional, Seino, Y., additional, Musca, F., additional, De Chiara, B., additional, Moreo, A., additional, Cataldo, S., additional, Parolini, M., additional, Parodi, O., additional, Bombardini, T., additional, Faita, F., additional, Park, S.-J., additional, Kil, J.-H., additional, Kim, S.-J., additional, Jang, S.-Y., additional, Chang, S.-A., additional, Choi, J.-O., additional, Lee, S.-C., additional, Park, S., additional, Park, P., additional, Oh, J., additional, Cikes, M., additional, Velagic, V., additional, Biocina, B., additional, Gasparovic, H., additional, Djuric, Z., additional, Bijnens, B., additional, Milicic, D., additional, Huqi, A., additional, Klas, B., additional, He, A., additional, Paterson, I., additional, Irween, M., additional, Ezekovitz, J., additional, Choy, J., additional, Chen, Y., additional, Cheng, L., additional, Yao, R., additional, Yao, H., additional, Chen, H., additional, Pan, C., additional, Shu, X., additional, Sobkowicz, B., additional, Kaminska, M., additional, Musial, W., additional, Buechel, R., additional, Sommer, G., additional, Leibundgut, G., additional, Rohner, A., additional, Bremerich, J., additional, Kaufmann, B., additional, Kessel-Schaefer, A., additional, Handke, M., additional, Kiotsekoglou, A., additional, Saha, S., additional, Toole, R., additional, Sharma, S., additional, Gopal, A., additional, Adhya, S., additional, Tsang, W., additional, Kenny, C., additional, Kapetanakis, S., additional, Lang, R., additional, Monaghan, M., additional, Smith, B., additional, Coulter, T., additional, Rendon, A., additional, Cheung, W.-S., additional, Gorissen, W., additional, Ejlersen, J. A., additional, May, O., additional, Van Slochteren, F. J., additional, Van Der Spoel, T., additional, Hanssen, H., additional, Doevendans, P., additional, Chamuleau, S., additional, De Korte, C., additional, Tarr, A., additional, Stoebe, S., additional, Trache, T., additional, Kluge, J.-G., additional, Varga, A., additional, Hagendorff, A., additional, Nagy, A., additional, Kovacs, A., additional, Apor, A., additional, Sax, B., additional, Becker, D., additional, Merkely, B., additional, Lindquist, R., additional, Miller, A., additional, Reece, C., additional, Eidem, B. W., additional, Choi, W.-G., additional, Kim, S., additional, Oh, S., additional, Kim, Y., additional, Iacobelli, R., additional, Chinali, M., additional, D' Asaro, M., additional, Toscano, A., additional, Del Pasqua, A., additional, Esposito, C., additional, Seghetti, G., additional, Parisi, F., additional, Pongiglione, G., additional, Rinelli, G., additional, Omaygenc, O., additional, Bakal, R., additional, Dogan, C., additional, Teber, K., additional, Akpinar, S., additional, Sahin, G., additional, Ozdemir, N., additional, Penhall, A., additional, Joseph, M., additional, Chong, F., additional, De Pasquale, C., additional, Selvanayagam, J., additional, Leong, D., additional, Nyktari, E. G., additional, Patrianakos, A. P., additional, Goudis, C., additional, Solidakis, G., additional, Parthenakis, F., additional, Vardas, P., additional, Nestaas, E., additional, Fugelseth, D., additional, Vitarelli, A., additional, Capotosto, L., additional, Bernardi, M., additional, Conde, Y., additional, Caranci, F., additional, Placanica, G., additional, Dettori, O., additional, Vitarelli, M., additional, De Chiara, S., additional, De Cicco, V., additional, Ferro', M., additional, Calabro', R., additional, Apostolakis, S., additional, Chalikias, G., additional, Tziakas, D., additional, Stakos, D., additional, Thomaidi, A., additional, Konstantinides, S., additional, Iorio, G., additional, Rucos, R., additional, Continanza, G., additional, D Ascanio, M., additional, Alessandroni, L., additional, Saponara, M., additional, Berry, M., additional, Nahum, J., additional, Zaghden, O., additional, Monin, J., additional, Couetil, J., additional, Lairez, O., additional, Macron, L., additional, Dubois Rande, J., additional, Gueret, P., additional, Lim, P., additional, Cameli, M., additional, Giacomin, E., additional, Lisi, M., additional, Benincasa, S., additional, Righini, F., additional, Menci, D., additional, Focardi, M., additional, Mondillo, S., additional, Philip, E., additional, Gorincour, G., additional, Bellsham-Revell, H., additional, Bell, A. J., additional, Miller, O. I., additional, Beerbaum, P., additional, Razavi, R., additional, Greil, G., additional, Simpson, J. M., additional, Ann, S., additional, Kim, T., additional, Lee, J., additional, Chin, J., additional, Cabeza Lainez, P., additional, Escolar Camas, V., additional, Gheorghe, L., additional, Fernandez Garcia, P., additional, Vazquez Garcia, R., additional, Caiulo, V., additional, Caiulo, S., additional, Fisicaro, A., additional, Moramarco, F., additional, Latini, G., additional, Seale, A., additional, Carvalho, J., additional, Gardiner, H., additional, Roughton, M., additional, Simpson, J., additional, Tometzki, A., additional, Uzun, O., additional, Webber, S., additional, Daubeney, P., additional, Dawood, A., additional, Dwivedi, G., additional, Mahadevan, G., additional, Jiminez, D., additional, Steeds, R., additional, Frenneaux, M., additional, Attenhofer Jost, C. H., additional, Knechtle, B., additional, Bernheim, A., additional, Pfyffer, M., additional, Linka, A., additional, Faeh-Gunz, A., additional, Seifert, B., additional, De Pasquale, G., additional, Zuber, M., additional, Tomaszewski, A., additional, Kutarski, A., additional, and Tomaszewski, M., additional

Published
2011
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36. Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

Author

Zimoń, M., primary, Baets, J., additional, Fabrizi, G.M., additional, Jaakkola, E., additional, Kabzińska, D., additional, Pilch, J., additional, Schindler, A.B., additional, Cornblath, D.R., additional, Fischbeck, K.H., additional, Auer-Grumbach, M., additional, Guelly, C., additional, Huber, N., additional, De Vriendt, E., additional, Timmerman, V., additional, Suter, U., additional, Hausmanowa-Petrusewicz, I., additional, Niemann, A., additional, Kochański, A., additional, De Jonghe, P., additional, and Jordanova, A., additional

Published
2011
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37. Poster session II * Thursday 9 December 2010, 14:00-18:00

Author

Pabari, P. A., primary, Kyriacou, A., additional, Moraldo, M., additional, Unsworth, B., additional, Baruah, R., additional, Sutaria, N., additional, Hughes, A., additional, Mayet, J., additional, Francis, D. P., additional, Uejima, T., additional, Loboz, K., additional, Antonini-Canterin, F., additional, Polombo, C., additional, Carerj, S., additional, Vinereanu, D., additional, Evangelista, A., additional, Leftheriotis, G., additional, Fraser, A. G., additional, Kiotsekoglou, A., additional, Govindan, M., additional, Govind, S. C., additional, Saha, S. K., additional, Camm, A. J., additional, Azcarate, P. M., additional, Castano, S., additional, Rodriguez-Manero, M., additional, Arraiza, M., additional, Levy, B., additional, Barba, J., additional, Rabago, G., additional, Bastarrika, G., additional, Nemes, A., additional, Takacs, R., additional, Varkonyi, T., additional, Gavaller, H., additional, Baczko, I., additional, Forster, T., additional, Wittmann, T., additional, Papp, J. G., additional, Lengyel, C., additional, Varro, A., additional, Tumasyan, L. R., additional, Adamyan, K. G., additional, Savu, O., additional, Mieghem, T., additional, Dekoninck, P., additional, Gucciardo, L., additional, Jurcut, R., additional, Giusca, S., additional, Popescu, B. A., additional, Ginghina, C., additional, Deprest, J., additional, Voigt, J. U., additional, Versiero, M., additional, Galderisi, M., additional, Esposito, R., additional, Rapacciuolo, A., additional, Esposito, G., additional, Raia, R., additional, Morgillo, T., additional, Piscione, F., additional, De Simone, G., additional, Oraby, M. A., additional, Maklady, F. A., additional, Mohamed, E. M., additional, Eraki, A. 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C., additional, Chen, J., additional, Gaudron, P., additional, Niemann, M., additional, Herrmann, S., additional, Hu, K., additional, Bijnens, B., additional, Hillenbrand, H., additional, Beer, M., additional, Ertl, G., additional, Weidemann, F., additional, Mazzone, A., additional, Mariani, M., additional, Foffa, I., additional, Vianello, A., additional, Del Ry, S., additional, Bevilacqua, S., additional, Andreassi, M. G., additional, Glauber, M., additional, Berti, S., additional, Grabowski, M., additional, Postula, M., additional, Dragulescu, A., additional, Van Arsdell, G., additional, Al-Radi, O., additional, Caldarone, C., additional, Mertens, L., additional, Lee, K. J., additional, Casula, R. P., additional, Yadav, H., additional, Cherian, A., additional, Hughes, A. D., additional, Vitarelli, A., additional, D'orazio, S., additional, Nguyen, B. L., additional, Iorio, G., additional, Battaglia, D., additional, Caranci, F., additional, Padella, V., additional, Capotosto, L., additional, Alessandroni, L., additional, Barilla, F., additional, Cardin, C., additional, Hascoet, S., additional, Saudron, M., additional, Caudron, G., additional, Arnaudis, B., additional, Acar, P., additional, Sun, M. M., additional, Shu, X. H., additional, Pan, C. Z., additional, Fang, X. Y., additional, Kong, D. H., additional, Fang, F., additional, Zhang, Q., additional, Chan, Y. S., additional, Xie, J. M., additional, Yip, W. K., additional, Lam, Y. Y., additional, Sanderson, J. E., additional, Yu, C. M., additional, Rosca, M., additional, O' Connor, K., additional, Romano, G., additional, Magne, J., additional, Calin, A., additional, Muraru, D., additional, Pierard, L., additional, Lancellotti, P., additional, Roushdy, A., additional, Elfiky, I., additional, El Shahid, G., additional, Elfiky, A., additional, El Sayed, M., additional, Wierzbowska-Drabik, K., additional, Chrzanowski, L., additional, Kapusta, A., additional, Plonska-Goscinak, E., additional, Krzeminska-Pakula, M., additional, Kurpesa, M., additional, Rechcinski, T., additional, Trzos, E., additional, Kasprzak, J. D., additional, Ersboll, M. K., additional, Valeur, N., additional, Mogensen, U. M., additional, Andersen, M., additional, Hassager, C., additional, Sogaard, P., additional, Kober, L. V., additional, Kloeckner, M., additional, Hayat, D., additional, Dussault, C., additional, Lellouche, N., additional, Elbaz, N., additional, Demopoulos, A., additional, Hatzigeorgiou, G., additional, Leontiades, E., additional, Motsi, A., additional, Karatasakis, G., additional, Athanassopoulos, G., additional, Zycinski, P., additional, Kasprzak, J., additional, Vazquez Alvarez, M. C., additional, Medrano Lopez, C., additional, Camino Lopez, M., additional, Granja, S., additional, Zunzunegui Martinez, J. L., additional, Maroto Alvaro, E., additional, Tsai, W.-C., additional, Chen, J.-Y., additional, Liu, Y.-W., additional, Lin, C.-C., additional, Tsai, L.-M., additional, Gomes, D. C., additional, Robalo Martins, S., additional, Gois, M. R., additional, Ribeiro, S., additional, Nunes Diogo, A., additional, Sengupta, P., additional, Di Bella, G., additional, Caracciolo, G., additional, Lentini, S., additional, Kinova, E., additional, Zlatareva, N., additional, Goudev, A., additional, Papagiannis, N., additional, Mpouki, M., additional, Papagianni, A., additional, Vorria, M., additional, Mpenetos, G., additional, Lytra, D., additional, Papadopoulou, E., additional, Sgourakis, P., additional, Malakos, J., additional, Kyriazis, J., additional, Kodali, V., additional, Toole, R., additional, Gopal, A. S., additional, Celutkiene, J., additional, Rudys, A., additional, Grabauskiene, V., additional, Glaveckaite, S., additional, Sadauskiene, E., additional, Lileikiene, Z., additional, Bickauskaite, N., additional, Ciburiene, E., additional, Skorniakov, V., additional, Laucevicius, A., additional, Attenhofer Jost, C. H., additional, Pfyffer, M., additional, Lindquist, R., additional, Santos, J. L. F., additional, Coelho, O. R. C., additional, Mady, C. M., additional, Picard, M. H. P., additional, Salemi, V. M. C., additional, Funk, L., additional, Prull, M. W., additional, Shih, J.-Y., additional, Huang, Y.-Y., additional, O'connor, K., additional, Moonen, M., additional, Pierard, L. A., additional, Cozma, D. C., additional, Mornos, C., additional, Ionac, A., additional, Petrescu, L., additional, Dragulescu, D., additional, Dan, R., additional, Popescu, I., additional, Dragulescu, S. I., additional, Von Lueder, T. G., additional, Hodt, A., additional, Gjerdalen, G. F., additional, Andersen, T. E., additional, Solberg, E. E., additional, Steine, K., additional, Van Mieghem, T., additional, Rostek, M., additional, Pikto-Pietkiewicz, W., additional, Dluzniewski, M., additional, Antoniewicz, A., additional, Poletajew, S., additional, Borowka, A., additional, Pasierski, T., additional, Malyutina, S. K., additional, Ryabikov, M., additional, Ragino, J., additional, Ryabikov, A., additional, Sitia, S., additional, Tomasoni, L., additional, Atzeni, F., additional, Gianturco, L., additional, Sarzi-Puttini, P., additional, De Gennaro Colonna, V., additional, Turiel, M., additional, Gutierrez, F. R., additional, Lefhtheriotis, G., additional, Hurst, R. T., additional, Nelson, M. R., additional, Mookadam, F., additional, Thota, V., additional, Emani, U., additional, Al Harthi, M., additional, Stepanek, J., additional, Cha, S., additional, Lester, S. J., additional, Ho, E. M. M., additional, Hemeryck, L., additional, Hall, M., additional, Scott, K., additional, Bennett, K., additional, Mahmud, A., additional, Daly, C., additional, King, G., additional, Murphy, R. T., additional, Brown, A. S., additional, Teske, A. J., additional, D'Hooge, J., additional, Claus, P., additional, Rademakers, F., additional, Santos, L., additional, Cortez-Dias, N., additional, Goncalves, S., additional, Almeida Ribeiro, M., additional, Bordalo E Sa, A., additional, Magnino, C., additional, Marcos-Alberca, P., additional, Milan, A., additional, Almeria, C., additional, Caniadas, V., additional, Rodrigo, J. L., additional, Perez De Isla, L., additional, Zamorano, J. L., additional, Gustafsson, U., additional, Larsson, M., additional, Lindqvist, P., additional, Brodin, L., additional, Waldenstrom, A., additional, Roosens, B., additional, Hernot, S., additional, Droogmans, S., additional, Van Camp, G., additional, Lahoutte, T., additional, Cosyns, B., additional, Rao, C. M., additional, Aguglia, D., additional, Casciola, G., additional, Imbesi, C., additional, Marvelli, A., additional, Sgro, M., additional, Benedetto, D., additional, Tripepi, R., additional, Zoccali, C., additional, Benedetto, F. A., additional, Badano, L. P., additional, Cardillo, M., additional, Del Mestre, L., additional, Gianfagna, P., additional, Proclemer, A., additional, Tschernich, H. D., additional, Mora, B., additional, Base, E., additional, Weber, U., additional, Dumfarth, J., additional, Mukherjee, C., additional, Skaltsiotis, H. S., additional, Kaladaridis, A. K., additional, Bramos, D. B., additional, Kottis, G. K., additional, Antoniou, A. A., additional, Agrios, I. A., additional, Takos, D. T., additional, Vasiladiotis, N. V., additional, Pamboucas, K. P., additional, Toumanidis, S. T. T., additional, Shim, A., additional, Lipec, P., additional, Michalski, B., additional, Wozniakowski, B., additional, Stefanczyk, L., additional, Rotkiewicz, A., additional, Cameli, M., additional, Lisi, M., additional, Padeletti, M., additional, Bigio, E., additional, Bernazzali, S., additional, Tsoulpas, C., additional, Maccherini, M., additional, Henein, M., additional, Mondillo, S., additional, Garcia Lunar, I., additional, Mingo Santos, S., additional, Monivas Palomero, V., additional, Mitroi, C., additional, Beltran Correas, P., additional, Ruiz Bautista, L., additional, Muniz Lozano, A., additional, Gonzalez Gonzalez, M., additional, Pabari, P. A., additional, Stegemann, B., additional, Willson, K., additional, Zeppellini, R., additional, Iavernaro, A., additional, Zadro, M., additional, Carasi, M., additional, De Domenico, R., additional, Rigo, T., additional, Artuso, E., additional, Erente, G., additional, Ramondo, A., additional, Le, T. T., additional, Huang, F. Q., additional, Gu, Y., additional, and Tan, R. S., additional

Published
2010
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40. Molecular genetic and genetic correlations in sodium channelopathies: Lack of founder effect and evidence for a second gene

Author

Wang, J., Zhou, J., Todorovic, S. M., Feero, W. G., Barany, F., Conwit, R., Hausmanowa-Petrusewicz, I., Fidzianska, A., Arahata, K., Wessel, H. B., Sillen, A., Marks, H. G., Hartlage, P., Galloway, G., Ricker, K., Lehmann-Horn, F., Hayakawa, H., and Hoffman, E. P.

Subjects
Adult, Male, Polymorphism, Genetic, Myotonia Congenita, Muscles, Infant, Original Articles, Middle Aged, Sodium Channels, Paralyses, Familial Periodic, Pedigree, Cohort Studies, Haplotypes, Oligodeoxyribonucleotides, Child, Preschool, Humans, Female, Repetitive Sequences, Nucleic Acid
Abstract

We present a correlation of molecular genetic data (mutations) and genetic data (dinucleotide-repeat polymorphisms) for a cohort of seven hyperkalemic periodic paralysis (HyperPP) and two paramyotonia congenita (PC) families from diverse ethnic backgrounds. We found that each of three previously identified point mutations of the adult skeletal muscle sodium-channel gene occurred on two different dinucleotide-repeat haplotypes. These results indicate that dinucleotide-repeat haplotypes are not predictive of allelic heterogeneity in sodium channelopathies, contrary to previous suggestions. In addition, we identified a HyperPP pedigree in which the dominant disorder was not linked to the sodium-channel gene. Thus, a second locus can give rise to a similar clinical phenotype. Some individuals in this pedigree exhibited a base change causing the nonconservative substitution of an evolutionarily conserved amino acid. Because this change was not present in 240 normal chromosomes and was near another HyperPP mutation, is fulfilled the most commonly used criteria for being a mutation rather than a polymorphism. However, linkage studies using single-strand conformation polymorphism-derived and sequence-derived haplotypes excluded this base change as a causative mutation: these data serve as a cautionary example of potential pitfalls in the delineation of change-of-function point mutations.

Published
1993

41. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

Author

Brzustowicz, L.M., Lehner, T., Castilla, L.H., Penchaszadeh, G.K., Wilhelmsen, K.C., Daniels, R., Davies, K.E., Leppert, M., Ziter, F., Wood, D., Dubowitz, V., Zerres, K., Hausmanowa-Petrusewicz, I., Ott, J., Munsat, T.L., and Gilliam, T.C.

Subjects
Atrophy, Muscular -- Genetic aspects, Central nervous system diseases -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Spinal muscular atrophy (SMA) is actually a group of inherited degenerative diseases affecting the alpha motor neurons in the spinal cord. These diseases are the leading cause of genetically caused infant mortality and are second only to cystic fibrosis as the most common autosomal recessive Mendelian disorder. It is often the case with genetic disorders that a variety of independently arising mutations all cause a similar clinical picture. Since SMA is a clinically heterogeneous group of disorders, it might be expected to be genetically heterogeneous as well, making it difficult to analyze. However, a genetic linkage analysis of 13 families with SMA has demonstrated that at least some forms of SMA can be found to have their genetic origin on chromosome 5. Spinal muscular atrophy cases are characterized by symmetric weakness, deterioration of limb muscles, and degeneration of anterior horn cells. Conduction times of nerve signals appear to be normal. Type I SMA, also known as Werdnig-Hoffmann, infantile, or severe SMA, is an acute, clinically homogeneous form in which the patients deteriorate rapidly, often dying in the first year of life and usually by age four. Types II and III, sometimes called intermediate and mild, are much more heterogeneous. It is worth noting that the childhood-onset SMAs are invariably transmitted in a recessive form, but the adult-onset form may be a dominant gene. In an investigation of six families with type I SMA and seven with type II or III, the gene was mapped to chromosome 5; the precise position was found to be 5q11.2-13.3. Although the confidence interval for the chromosomal mapping of type I (acute) SMA was too broad to assign it precisely, the evidence suggests that it, too, is on chromosome 5, and may be about 15 centiMorgans towards the distal end away from the locus of the chronic SMA. (A centiMorgan is a unit of crossover frequency used as an operational definition for distance along a chromosome.) The enzyme hexosaminidase B is located in the same region of chromosome 5, and deficiencies in this enzyme have been observed in cases of chronic SMA. It will be interesting to determine if cases of adult-onset, and Mendelian dominant, SMA also map to this region of chromosome 5. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1990

50. Genetic Refinement And Physical Mapping Of The CMT4B Gene On Chromosome 11Q22

Author

Bolino, A., primary, Levy, E.R., additional, Muglia, M., additional, Conforti, F.L., additional, LeGuern, E., additional, Salih, M.A.M., additional, Georgiou, D.M., additional, Hausmanowa‐Petrusewicz, I., additional, Mandich, P., additional, Gambardella, A., additional, Quattrone, A., additional, Devoto, M., additional, and Monaco, A.P., additional

Published
2000
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