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1. Examples of inclusions of unital $C\sp*$-algebras of index-finite type with the Rokhlin property

Author

Lee, H., Osaka, H., and Teruya, T.

Subjects
Mathematics - Operator Algebras, 46L55(Primary) 47C15, 46L35 (Secondary)
Abstract

In this note, we provide several examples of inclusions of unital $C\sp*$-algebras of index finite-type with the Rokhlin property lacking in literature and more importantly we construct the example which does not belong to the fixed point algebra model which means that for the inclusion $P \subset A$ there is neither finite group action $ G \curvearrowright A$ such that $P=A^{G}$ nor finite dimensional $C\sp*$- Hopf algebra action $H \curvearrowright A$ such that $P=A^{H}$., Comment: 12pages, 1 figure

Published
2024

7. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Mercuri, Eugenio Maria, Deconinck, N., Mazzone, Elena Stacy, Nascimento, A., Oskoui, M., Saito, K., Vuillerot, C., Baranello, Giovanni, Boespflug-Tanguy, O., Goemans, N., Kirschner, J., Kostera-Pruszczyk, A., Servais, L., Gerber, M., Gorni, K., Khwaja, O., Kletzl, H., Scalco, R. S., Staunton, H., Yeung, W. Y., Martin, Craig, Fontoura, P., Day, J. W., Volpe, J. J., Posner, J., Kellner, U., Quinlivan, R., Fuerst-Recktenwald, S., Marquet, A., Mulhardt, N., Trundell, D., Daron, A., Delstanche, S., Romain, B., Dal Farra, F., Schneider, O., Balikova, I., Delbeke, P., Joniau, I., Tahon, V., Wittevrongel, S., De Vos, E., Casteels, I., De Waele, L., Cassiman, C., Prove, L., Kinoo, D., Vancampenhout, L., Van Den Hauwe, M., Van Impe, A., Prufer de Queiroz Campos Araujo, A., Chacon Pereira, A., Nardes, F., Haefeli, L., Rossetto, J., Almeida Pereira, J., Ferreira Rebel, M., Campbell, C., Sharan, S., Mcdonald, W., Scholtes, C., Mah, J., Sframeli, M., Chiu, A., Hagel, J., Beneish, R., Pham, C., Toffoli, D., Arpin, S., Turgeon Desilets, S., Wang, Y., Hu, C., Huang, J., Qian, C., Shen, L., Xiao, Y., Zhou, Z., Li, H., Wang, S., Xiong, H., Chang, X., Dong, H., Liu, Y., Sang, T., Wei, C., Wen, J., Cao, Y., Lv, X., Zhao, J., Li, W., Qin, L., Barisic, N., Galiot Delic, M., Ivkic, P. K., Vukojevic, N., Kern, I., Najdanovic, B., Skugor, M., Gidaro, T., Seferian, A., De Lucia, Sara Sofia, Barreau, E., Mnafek, N., Momtchilova, M. M., Peche, H., Valherie, C., Grange, A., Lilien, C., Milascevic, D., Tachibana, S., Ravelli, C., Cardas, R., Vanden Brande, L., Davion, J. -B., Coopman, S., Bouacha, I., Debruyne, P., Defoort, S., Derlyn, G., Leroy, F., Danjoux, L., Guilbaud, J., Desguerre, I., Barnerias, C., Semeraro, M., Bremond-Gignac, D., Bruere, L., Rateaux, M., Deladriere, E., Germa, V., Pereon, Y., Magot, A., Mercie, S., Billaud, F., Le Goff, L., Letellier, G., Portefaix, A., Fontaine, S., De-Montferrand, C., Le-Goff, L., Saidi, M., Bouzid, N., Barriere, A., Tinat, M., Dreesbach, M., Lagreze, W., Michaelis, B., Molnar, F., Seger, D., Vogt, S., Bertini, Enrico Silvio, D'Amico, Adele, Petroni, S., Bonetti, A. M., Carlesi, A., Mizzoni, I., Bruno, C., Priolo, E., Rao, G., Morando, S., Tacchetti, P., Zuffi, A., Comi, G. P., Brusa, R., Corti, Serafino, Daniele, V., Govoni, A., Magri, F., Minorini, V., Osnaghi, S. G., Abbati, F., Fassini, F., Foa, M., Lopopolo, A., Meneri, M., Zoppas, F., Parente, V., Masson, R., Bianchi Marzoli, Stefania, Santarsiero, Rocco Domenico, Garcia Sierra, M., Tremolada, G., Arnoldi, M. T., Vigano, M., Zanin, Renata, Amorelli, Giulia Maria, Barresi, C., D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, K., Kato, A., Morishita, Y., Kira, R., Akiyama, K., Goto, M., Mori, Y., Okamoto, M., Tsutsui, S., Takatsuji, Y., Tanaka, A., Komaki, H., Suzuki, I., Takeuchi, M., Todoroki, D., Watanabe, S., Omori, M., Matsubayashi, T., Inakazu, E., Nagura, H., Suzuki, A., Osaka, H., Ohashi, M., Ishikawa, N., Harada, Y., Fudeyasu, K., Hirata, K., Michiue, K., Ueda, K., Yashiro, S., Seki, M., Sano, N., Uemura, A., Fukuyama, K., Matsumoto, Y., Miyazaki, H., Shibata, M., Kobayashi, K., Nakamura, Y., Takeshima, Y., Kuma, M., Fraczek, A., Jedrzejowska, M., Lusakowska, A., Czeszyk-Piotrowicz, A., Hautz, W., Rakusiewicz, K., Burlewicz, M., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Mazurkiewicz-Beldzinska, M., Lemska, A., Modrzejewska, S., Koberda, M., Stodolska-Koberda, U., Waskowska, A., Kolendo, J., Sobierajska-Rek, A., Steinborn, B., Dalz, M., Grabowska, J., Hajduk, W., Janasiewicz-Karachitos, J., Klimas, M., Stopa, M., Gajewska, E., Pusz, B., Vlodavets, D., Melnik, E., Leppenen, N., Yupatova, N., Monakhova, A., Papina, Y., Shidlovsckaia, O., Milic Rasic, V., Brankovic, V., Kosac, A., Djokic, O., Jaksic, V., Pepic, A., Martinovic, J., Munell Casadesus, F., Tizzano, E., Martin Begue, N., Wolley Dod, C., Subira, O., Planas Pascual, B., Toro Tamargo, E., Madruga Garrido, M., Medina Romero, J. D., Salinas, M. P., Nascimento Osorio, A., Diaz Cortes, A., Jimenez Ganan, E., Suh, S. D., Medina Cantillo, J., Moya, O., Padros, N., Roca Urraca, S., Gonzalez Valdivia, H., Pascual Pascual, S., de Manuel, S., Noval Martin, S., Burnham, P., Espinosa Garcia, S., Martinez Moreno, M., Topaloglu, H., Oncel, I., Eroglu Ertugrul, N., Konuskan, B., Eldem, B., Kadayifcilar, S., Alemdaroglu, I., Ayse Karaduman, A., Tunca Yilmaz, O., Bilgin, N., Sari, S., Chiriboga, C., Kane, S., Lee, J., Rome-Martin, D., Beres, S., Duong, T., Gee, R., Dunaway Young, S., Mercuri E. (ORCID:0000-0002-9851-5365), Mazzone E. S., Baranello G., Martin C., De Lucia S., Bertini E., D'Amico A., Corti S., Bianchi Marzoli S., Santarsiero D., Zanin R., Amorelli G. M., D'Amico G., Orazi L., Coratti G. (ORCID:0000-0001-6666-5628), Mercuri, Eugenio Maria, Deconinck, N., Mazzone, Elena Stacy, Nascimento, A., Oskoui, M., Saito, K., Vuillerot, C., Baranello, Giovanni, Boespflug-Tanguy, O., Goemans, N., Kirschner, J., Kostera-Pruszczyk, A., Servais, L., Gerber, M., Gorni, K., Khwaja, O., Kletzl, H., Scalco, R. S., Staunton, H., Yeung, W. Y., Martin, Craig, Fontoura, P., Day, J. W., Volpe, J. J., Posner, J., Kellner, U., Quinlivan, R., Fuerst-Recktenwald, S., Marquet, A., Mulhardt, N., Trundell, D., Daron, A., Delstanche, S., Romain, B., Dal Farra, F., Schneider, O., Balikova, I., Delbeke, P., Joniau, I., Tahon, V., Wittevrongel, S., De Vos, E., Casteels, I., De Waele, L., Cassiman, C., Prove, L., Kinoo, D., Vancampenhout, L., Van Den Hauwe, M., Van Impe, A., Prufer de Queiroz Campos Araujo, A., Chacon Pereira, A., Nardes, F., Haefeli, L., Rossetto, J., Almeida Pereira, J., Ferreira Rebel, M., Campbell, C., Sharan, S., Mcdonald, W., Scholtes, C., Mah, J., Sframeli, M., Chiu, A., Hagel, J., Beneish, R., Pham, C., Toffoli, D., Arpin, S., Turgeon Desilets, S., Wang, Y., Hu, C., Huang, J., Qian, C., Shen, L., Xiao, Y., Zhou, Z., Li, H., Wang, S., Xiong, H., Chang, X., Dong, H., Liu, Y., Sang, T., Wei, C., Wen, J., Cao, Y., Lv, X., Zhao, J., Li, W., Qin, L., Barisic, N., Galiot Delic, M., Ivkic, P. K., Vukojevic, N., Kern, I., Najdanovic, B., Skugor, M., Gidaro, T., Seferian, A., De Lucia, Sara Sofia, Barreau, E., Mnafek, N., Momtchilova, M. M., Peche, H., Valherie, C., Grange, A., Lilien, C., Milascevic, D., Tachibana, S., Ravelli, C., Cardas, R., Vanden Brande, L., Davion, J. -B., Coopman, S., Bouacha, I., Debruyne, P., Defoort, S., Derlyn, G., Leroy, F., Danjoux, L., Guilbaud, J., Desguerre, I., Barnerias, C., Semeraro, M., Bremond-Gignac, D., Bruere, L., Rateaux, M., Deladriere, E., Germa, V., Pereon, Y., Magot, A., Mercie, S., Billaud, F., Le Goff, L., Letellier, G., Portefaix, A., Fontaine, S., De-Montferrand, C., Le-Goff, L., Saidi, M., Bouzid, N., Barriere, A., Tinat, M., Dreesbach, M., Lagreze, W., Michaelis, B., Molnar, F., Seger, D., Vogt, S., Bertini, Enrico Silvio, D'Amico, Adele, Petroni, S., Bonetti, A. M., Carlesi, A., Mizzoni, I., Bruno, C., Priolo, E., Rao, G., Morando, S., Tacchetti, P., Zuffi, A., Comi, G. P., Brusa, R., Corti, Serafino, Daniele, V., Govoni, A., Magri, F., Minorini, V., Osnaghi, S. G., Abbati, F., Fassini, F., Foa, M., Lopopolo, A., Meneri, M., Zoppas, F., Parente, V., Masson, R., Bianchi Marzoli, Stefania, Santarsiero, Rocco Domenico, Garcia Sierra, M., Tremolada, G., Arnoldi, M. T., Vigano, M., Zanin, Renata, Amorelli, Giulia Maria, Barresi, C., D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, K., Kato, A., Morishita, Y., Kira, R., Akiyama, K., Goto, M., Mori, Y., Okamoto, M., Tsutsui, S., Takatsuji, Y., Tanaka, A., Komaki, H., Suzuki, I., Takeuchi, M., Todoroki, D., Watanabe, S., Omori, M., Matsubayashi, T., Inakazu, E., Nagura, H., Suzuki, A., Osaka, H., Ohashi, M., Ishikawa, N., Harada, Y., Fudeyasu, K., Hirata, K., Michiue, K., Ueda, K., Yashiro, S., Seki, M., Sano, N., Uemura, A., Fukuyama, K., Matsumoto, Y., Miyazaki, H., Shibata, M., Kobayashi, K., Nakamura, Y., Takeshima, Y., Kuma, M., Fraczek, A., Jedrzejowska, M., Lusakowska, A., Czeszyk-Piotrowicz, A., Hautz, W., Rakusiewicz, K., Burlewicz, M., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Mazurkiewicz-Beldzinska, M., Lemska, A., Modrzejewska, S., Koberda, M., Stodolska-Koberda, U., Waskowska, A., Kolendo, J., Sobierajska-Rek, A., Steinborn, B., Dalz, M., Grabowska, J., Hajduk, W., Janasiewicz-Karachitos, J., Klimas, M., Stopa, M., Gajewska, E., Pusz, B., Vlodavets, D., Melnik, E., Leppenen, N., Yupatova, N., Monakhova, A., Papina, Y., Shidlovsckaia, O., Milic Rasic, V., Brankovic, V., Kosac, A., Djokic, O., Jaksic, V., Pepic, A., Martinovic, J., Munell Casadesus, F., Tizzano, E., Martin Begue, N., Wolley Dod, C., Subira, O., Planas Pascual, B., Toro Tamargo, E., Madruga Garrido, M., Medina Romero, J. D., Salinas, M. P., Nascimento Osorio, A., Diaz Cortes, A., Jimenez Ganan, E., Suh, S. D., Medina Cantillo, J., Moya, O., Padros, N., Roca Urraca, S., Gonzalez Valdivia, H., Pascual Pascual, S., de Manuel, S., Noval Martin, S., Burnham, P., Espinosa Garcia, S., Martinez Moreno, M., Topaloglu, H., Oncel, I., Eroglu Ertugrul, N., Konuskan, B., Eldem, B., Kadayifcilar, S., Alemdaroglu, I., Ayse Karaduman, A., Tunca Yilmaz, O., Bilgin, N., Sari, S., Chiriboga, C., Kane, S., Lee, J., Rome-Martin, D., Beres, S., Duong, T., Gee, R., Dunaway Young, S., Mercuri E. (ORCID:0000-0002-9851-5365), Mazzone E. S., Baranello G., Martin C., De Lucia S., Bertini E., D'Amico A., Corti S., Bianchi Marzoli S., Santarsiero D., Zanin R., Amorelli G. M., D'Amico G., Orazi L., and Coratti G. (ORCID:0000-0001-6666-5628)

Abstract

Background: Risdiplam is an oral small molecule approved for the treatment of patients with spinal muscular atrophy, with approval for use in patients with type 2 and type 3 spinal muscular atrophy granted on the basis of unpublished data. The drug modifies pre-mRNA splicing of the SMN2 gene to increase production of functional SMN. We aimed to investigate the safety and efficacy of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy. Methods: In this phase 3, randomised, double-blind, placebo-controlled study, patients aged 2–25 years with confirmed 5q autosomal recessive type 2 or type 3 spinal muscular atrophy were recruited from 42 hospitals in 14 countries across Europe, North America, South America, and Asia. Participants were eligible if they were non-ambulant, could sit independently, and had a score of at least 2 in entry item A of the Revised Upper Limb Module. Patients were stratified by age and randomly assigned (2:1) to receive either daily oral risdiplam, at a dose of 5·00 mg (for individuals weighing ≥20 kg) or 0·25 mg/kg (for individuals weighing <20 kg), or daily oral placebo (matched to risdiplam in colour and taste). Randomisation was conducted by permutated block randomisation with a computerised system run by an external party. Patients, investigators, and all individuals in direct contact with patients were masked to treatment assignment. The primary endpoint was the change from baseline in the 32-item Motor Function Measure total score at month 12. All individuals who were randomly assigned to risdiplam or placebo, and who did not meet the prespecified missing item criteria for exclusion, were included in the primary efficacy analysis. Individuals who received at least one dose of risdiplam or placebo were included in the safety analysis. SUNFISH is registered with ClinicalTrials.gov, NCT02908685. Recruitment is closed; the study is ongoing. Findings: Between Oct 9, 2017, and Sept 4, 2018, 180 patients were rand

Published
2022

14. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Author

van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D’Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, and Salomons, G S

Published
2013
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22. Resonance photoemission study of CePtP

Author

Iwasaki, T, Sekiyama, A, Ueda, S, Matsuda, K, Kotsugi, M, Imada, S, Suga, S, Saitoh, Y, Matsushita, T, Nakatani, T, Takayama, R, Sakai, O, Osaka, H, Kasaya, M, Takegahara, K, and Harima, H

Published
2000
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27. Revised guidelines for diagnosing Alexander disease and their validity

Author

Yoshida, T., primary, Mizuta, I., additional, Rei, Y., additional, Jun, M., additional, Mieno, M., additional, Kubota, M., additional, Sasaki, M., additional, Matsui, M., additional, Saitsu, H., additional, Takanashi, J., additional, Kurosawa, K., additional, Yamamoto, T., additional, Inoue, K., additional, Mizuno, T., additional, and Osaka, H., additional

Published
2017
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29. Novel biallelicSZT2mutations in 3 cases of early-onset epileptic encephalopathy

Author

Tsuchida, N., primary, Nakashima, M., additional, Miyauchi, A., additional, Yoshitomi, S., additional, Kimizu, T., additional, Ganesan, V., additional, Teik, K.W., additional, Ch'ng, G.-S., additional, Kato, M., additional, Mizuguchi, T., additional, Takata, A., additional, Miyatake, S., additional, Miyake, N., additional, Osaka, H., additional, Yamagata, T., additional, Nakajima, H., additional, Saitsu, H., additional, and Matsumoto, N., additional

Published
2017
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30. Isolation and characterization of avian influenza viruses from raw poultry products illegally imported to Japan by international flight passengers.

Author

Shibata, A., Hiono, T., Fukuhara, H., Sumiyoshi, R., Ohkawara, A., Matsuno, K., Okamatsu, M., Osaka, H., and Sakoda, Y.

Subjects
POULTRY products, AVIAN influenza A virus, AIR travelers, ANIMAL product microbiology, PUBLIC health, HEALTH
Abstract

Summary: The transportation of poultry and related products for international trade contributes to transboundary pathogen spread and disease outbreaks worldwide. To prevent pathogen incursion through poultry products, many countries have regulations about animal health and poultry product quarantine. However, in Japan, animal products have been illegally introduced into the country in baggage and confiscated at the airport. Lately, the number of illegally imported poultry and the incursion risk of transboundary pathogens through poultry products have been increasing. In this study, we isolated avian influenza viruses (AIVs) from raw poultry products illegally imported to Japan by international passengers. Highly (H5N1 and H5N6) and low (H9N2 and H1N2) pathogenic AIVs were isolated from raw chicken and duck products carried by flight passengers. H5 and H9 isolates were phylogenetically closely related to viruses isolated from poultry in China, and haemagglutinin genes of H5N1 and H5N6 isolates belonged to clades 2.3.2.1c and 2.3.4.4, respectively. Experimental infections of H5 and H9 isolates in chickens and ducks demonstrated pathogenicity and tissue tropism to skeletal muscles. To prevent virus incursion by poultry products, it is important to encourage the phased cleaning based on the disease control and eradication and promote the reduction in contamination risk in animal products. [ABSTRACT FROM AUTHOR]

Published
2018
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34. PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

Author

Kato, M., primary, Saitsu, H., additional, Murakami, Y., additional, Kikuchi, K., additional, Watanabe, S., additional, Iai, M., additional, Miya, K., additional, Matsuura, R., additional, Takayama, R., additional, Ohba, C., additional, Nakashima, M., additional, Tsurusaki, Y., additional, Miyake, N., additional, Hamano, S.-i., additional, Osaka, H., additional, Hayasaka, K., additional, Kinoshita, T., additional, and Matsumoto, N., additional

Published
2014
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36. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Author

UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de neurologie pédiatrique, van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, Marie-Cécile, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Yves, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, Salomons, G S, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de neurologie pédiatrique, van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, Marie-Cécile, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Yves, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, and Salomons, G S

Abstract

BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlation has been lacking. METHODS: We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked creatine transporter deficiency from 85 families with a pathogenic mutation in the creatine transporter gene (SLC6A8). RESULTS AND CONCLUSIONS: Most patients developed moderate to severe intellectual disability; mild intellectual disability was rare in adult patients. Speech language development was especially delayed but almost a third of the patients were able to speak in sentences. Besides behavioural problems and seizures, mild to moderate motor dysfunction, including extrapyramidal movement abnormalities, and gastrointestinal problems were frequent clinical features. Urinary creatine to creatinine ratio proved to be a reliable screening method besides MR spectroscopy, molecular genetic testing and creatine uptake studies, allowing definition of diagnostic guidelines. A third of patients had a de novo mutation in the SLC6A8 gene. Mothers with an affected son with a de novo mutation should be counselled about a recurrence risk in further pregnancies due to the possibility of low level somatic or germline mosaicism. Missense mutations with residual activity might be associated with a milder phenotype and large deletions extending beyond the 3' end of the SLC6A8 gene with a more severe phenotype. Evaluation of the biochemical phenotype revealed unexpected high creatine levels in cerebrospinal fluid suggesting that the brain is able to synthesise creatine and that the cerebral creatine deficiency is caused by a defect in the reuptake of creatine within the neurones.

Published
2013

37. Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

Author

van de Kamp, J.M. (Jiddeke M.), Betsalel, O.T. (Ofir), Mercimek-Mahmutoglu, S. (Saadet), Abulhoul, L. (L.), Grünewald, S. (Sonja), Anselm, I. (I.), Azzouz, H. (H.), Bratkovic, D. (D.), Brouwer, A.P.M. (Arjan) de, Hamel, B.C. (Ben), Kleefstra, T. (Tjitske), Yntema, H.G., Campistol, J.M., Vilaseca, M.A. (M.), Cheillan, D. (David), D'Hooghe, M. (M.), Diogo, L. (Luisa), Garcia, P. (Paula), Valongo, C. (C.), Fonseca, M. (M.), Frints, S.G.M. (Suzanna), Wilcken, B. (Bridget), Haar, S. (Sigrun) von der, Meijers-Heijboer, E.J. (Hanne), Hofstede, F.C. (Floris), Johnson, D. (David), Kant, S.G. (Sarina), Lion-Francois, L. (Laurence), Pitelet, G. (G.), Longo, N. (N.), Maat-Kievit, A.A. (Anneke), Monteiro, J.P. (J.), Munnich, A. (Arnold), Muntau, A.C. (A.), Nassogne, M.C. (M.), Osaka, H. (H.), Õunap, K. (Katrin), Pinard, J.M. (J.), Quijano-Roy, S. (S.), Poggenburg, I. (I.), Poplawski, N. (Nicola), Abdul-Rahman, O.A. (Omar), Ribes, A. (A.), Arias Pérez, J.I. (José Ignacio), Yaplito-Lee, J. (J.), Schulze, A. (A.), Schwartz, C.E., Schwenger, S. (S.), Soares, G. (G.), Sznajer, Y. (Yves), Valayannopoulos, V. (Vassili), Esch, H. (Hilde) van, Waltz, S. (S.), Wamelink, M.M.C. (Mirjam), Pouwels, P.J.W. (Petra), Errami, A. (Abdellatif), Knaap, M.S. (Marjo) van der, Jakobs, C. (Cornelis), Mancini, G.M.S. (Grazia), Salomons, G.S. (Gajja), van de Kamp, J.M. (Jiddeke M.), Betsalel, O.T. (Ofir), Mercimek-Mahmutoglu, S. (Saadet), Abulhoul, L. (L.), Grünewald, S. (Sonja), Anselm, I. (I.), Azzouz, H. (H.), Bratkovic, D. (D.), Brouwer, A.P.M. (Arjan) de, Hamel, B.C. (Ben), Kleefstra, T. (Tjitske), Yntema, H.G., Campistol, J.M., Vilaseca, M.A. (M.), Cheillan, D. (David), D'Hooghe, M. (M.), Diogo, L. (Luisa), Garcia, P. (Paula), Valongo, C. (C.), Fonseca, M. (M.), Frints, S.G.M. (Suzanna), Wilcken, B. (Bridget), Haar, S. (Sigrun) von der, Meijers-Heijboer, E.J. (Hanne), Hofstede, F.C. (Floris), Johnson, D. (David), Kant, S.G. (Sarina), Lion-Francois, L. (Laurence), Pitelet, G. (G.), Longo, N. (N.), Maat-Kievit, A.A. (Anneke), Monteiro, J.P. (J.), Munnich, A. (Arnold), Muntau, A.C. (A.), Nassogne, M.C. (M.), Osaka, H. (H.), Õunap, K. (Katrin), Pinard, J.M. (J.), Quijano-Roy, S. (S.), Poggenburg, I. (I.), Poplawski, N. (Nicola), Abdul-Rahman, O.A. (Omar), Ribes, A. (A.), Arias Pérez, J.I. (José Ignacio), Yaplito-Lee, J. (J.), Schulze, A. (A.), Schwartz, C.E., Schwenger, S. (S.), Soares, G. (G.), Sznajer, Y. (Yves), Valayannopoulos, V. (Vassili), Esch, H. (Hilde) van, Waltz, S. (S.), Wamelink, M.M.C. (Mirjam), Pouwels, P.J.W. (Petra), Errami, A. (Abdellatif), Knaap, M.S. (Marjo) van der, Jakobs, C. (Cornelis), Mancini, G.M.S. (Grazia), and Salomons, G.S. (Gajja)

Abstract

Background: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype-genotype correlation has been lacking. Methods: We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked creatine transporter deficiency from 85 families with a pathogenic mutation in the creatine transporter gene (SLC6A8). Results and conclusions: Most patients developed moderate to severe intellectual disability; mild intellectual disability was rare in adult patients. Speech language development was especially delayed but almost a third of the patients were able to speak in sentences. Besides behavioural problems and seizures, mild to moderate motor dysfunction, including extrapyramidal movement abnormalities, and gastrointestinal problems were frequent clinical features. Urinary creatine to creatinine ratio proved to be a reliable screening method besides MR spectroscopy, molecular genetic testing and creatine uptake studies, allowing definition of diagnostic guidelines. A third of patients had a de novo mutation in the SLC6A8 gene. Mothers with an affected son with a de novo mutation should be counselled about a recurrence risk in further pregnancies due to the possibility of low level somatic or germline mosaicism. Missense mutations with residual activity might be associated with a milder phenotype and large deletions extending beyond the 30 end of the SLC6A8 gene with a more severe phenotype. Evaluation of the biochemical phenotype revealed unexpected high creatine levels in cerebrospinal fluid suggesting that the brain is able to synthesise creatine and that the cerebral creatine deficiency is caused by a defect in the reuptake of creatine within the neurones.

Published
2013
Full Text
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38. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Author

Kamp, J.M. van de, Betsalel, O.T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grunewald, S., Anselm, I., Azzouz, H., Bratkovic, D., Brouwer, A., Hamel, B.C.J., Kleefstra, T., Yntema, H.G., Campistol, J., Vilaseca, M.A., Cheillan, D., D'Hooghe, M., Diogo, L., Garcia, P., Valongo, C., Fonseca, M., Frints, S., Wilcken, B., Haar, S. van der, Meijers-Heijboer, H.E., Hofstede, F., Johnson, D., Kant, S.G., Lion-Francois, L., Pitelet, G., Longo, N., Maat-Kievit, J.A., Monteiro, J.P., Munnich, A., Muntau, A.C., Nassogne, M.C., Osaka, H., Ounap, K., Pinard, J.M., Quijano-Roy, S., Poggenburg, I., Poplawski, N., Abdul-Rahman, O., Ribes, A., Arias Vasquez, A., Yaplito-Lee, J., Schulze, A., Schwartz, C.E., Schwenger, S., Soares, G., Sznajer, Y., Valayannopoulos, V., Esch, H. van, Waltz, S., Wamelink, M.M., Pouwels, P.J., Errami, A., Knaap, M.S. van der, Jakobs, C., Mancini, G.M.S., Salomons, G.S., Kamp, J.M. van de, Betsalel, O.T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grunewald, S., Anselm, I., Azzouz, H., Bratkovic, D., Brouwer, A., Hamel, B.C.J., Kleefstra, T., Yntema, H.G., Campistol, J., Vilaseca, M.A., Cheillan, D., D'Hooghe, M., Diogo, L., Garcia, P., Valongo, C., Fonseca, M., Frints, S., Wilcken, B., Haar, S. van der, Meijers-Heijboer, H.E., Hofstede, F., Johnson, D., Kant, S.G., Lion-Francois, L., Pitelet, G., Longo, N., Maat-Kievit, J.A., Monteiro, J.P., Munnich, A., Muntau, A.C., Nassogne, M.C., Osaka, H., Ounap, K., Pinard, J.M., Quijano-Roy, S., Poggenburg, I., Poplawski, N., Abdul-Rahman, O., Ribes, A., Arias Vasquez, A., Yaplito-Lee, J., Schulze, A., Schwartz, C.E., Schwenger, S., Soares, G., Sznajer, Y., Valayannopoulos, V., Esch, H. van, Waltz, S., Wamelink, M.M., Pouwels, P.J., Errami, A., Knaap, M.S. van der, Jakobs, C., Mancini, G.M.S., and Salomons, G.S.

Abstract

Item does not contain fulltext, BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype-genotype correlation has been lacking. METHODS: We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked creatine transporter deficiency from 85 families with a pathogenic mutation in the creatine transporter gene (SLC6A8). RESULTS AND CONCLUSIONS: Most patients developed moderate to severe intellectual disability; mild intellectual disability was rare in adult patients. Speech language development was especially delayed but almost a third of the patients were able to speak in sentences. Besides behavioural problems and seizures, mild to moderate motor dysfunction, including extrapyramidal movement abnormalities, and gastrointestinal problems were frequent clinical features. Urinary creatine to creatinine ratio proved to be a reliable screening method besides MR spectroscopy, molecular genetic testing and creatine uptake studies, allowing definition of diagnostic guidelines. A third of patients had a de novo mutation in the SLC6A8 gene. Mothers with an affected son with a de novo mutation should be counselled about a recurrence risk in further pregnancies due to the possibility of low level somatic or germline mosaicism. Missense mutations with residual activity might be associated with a milder phenotype and large deletions extending beyond the 3' end of the SLC6A8 gene with a more severe phenotype. Evaluation of the biochemical phenotype revealed unexpected high creatine levels in cerebrospinal fluid suggesting that the brain is able to synthesise creatine and that the cerebral creatine deficiency is caused by a defect in the reuptake of creatine within the neurones.

Published
2013

39. A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study

Author

Abe, J., primary, Nakamura, K., additional, Nishikomori, R., additional, Kato, M., additional, Mitsuiki, N., additional, Izawa, K., additional, Awaya, T., additional, Kawai, T., additional, Yasumi, T., additional, Toyoshima, I., additional, Hasegawa, K., additional, Ohshima, Y., additional, Hiragi, T., additional, Sasahara, Y., additional, Suzuki, Y., additional, Kikuchi, M., additional, Osaka, H., additional, Ohya, T., additional, Ninomiya, S., additional, Fujikawa, S., additional, Akasaka, M., additional, Iwata, N., additional, Kawakita, A., additional, Funatsuka, M., additional, Shintaku, H., additional, Ohara, O., additional, Ichinose, H., additional, and Heike, T., additional

Published
2013
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41. Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

Author

Nakamura, K., primary, Kato, M., additional, Osaka, H., additional, Yamashita, S., additional, Nakagawa, E., additional, Haginoya, K., additional, Tohyama, J., additional, Okuda, M., additional, Wada, T., additional, Shimakawa, S., additional, Imai, K., additional, Takeshita, S., additional, Ishiwata, H., additional, Lev, D., additional, Lerman-Sagie, T., additional, Cervantes-Barragan, D. E., additional, Villarroel, C. E., additional, Ohfu, M., additional, Writzl, K., additional, Gnidovec Strazisar, B., additional, Hirabayashi, S., additional, Chitayat, D., additional, Myles Reid, D., additional, Nishiyama, K., additional, Kodera, H., additional, Nakashima, M., additional, Tsurusaki, Y., additional, Miyake, N., additional, Hayasaka, K., additional, Matsumoto, N., additional, and Saitsu, H., additional

Published
2013
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42. Proton MR spectroscopy in Pelizaeus-Merzbacher disease

Author

Jun-ichi Takanashi, Sugita, K., Osaka, H., Ishii, M., and Niimi, H.

Subjects
Male, Aspartic Acid, Magnetic Resonance Spectroscopy, Adolescent, Diffuse Cerebral Sclerosis of Schilder, Exons, Creatine, Choline, Reference Values, Child, Preschool, Journal Article, Humans, Point Mutation, Child, Energy Metabolism
Abstract

Proton MR spectroscopic findings in two patients with genetically defined Pelizaeus-Merzbacher disease revealed ratios of N-acetylaspartate/creatine and choline-containing compounds/creatine that were not significantly different from those found in a population of healthy subjects. These findings suggest that proton MR spectroscopy can aid in the diagnosis of Pelizaeus-Merzbacher disease.

Published
1997

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