Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Gina O'Grady"'
Autor:
Antti Tallgren, Leo Kager, Gina O’Grady, Hannu Tuominen, Jarmo Körkkö, Outi Kuismin, Martha Feucht, Callum Wilson, Jana Behunova, Eleina England, Mitja I. Kurki, Aarno Palotie, Mikko Hallman, Riitta Kaarteenaho, Franco Laccone, Kaan Boztug, Reetta Hinttala, Johanna Uusimaa
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
PurposeFINCA disease (Fibrosis, Neurodegeneration and Cerebral Angiomatosis, OMIM 618278) is an infantile-onset neurodevelopmental and multiorgan disease. Since our initial report in 2018, additional patients have been described. FINCA is the first h
Externí odkaz:
https://doaj.org/article/a15fd5005cc54d2da58d74123763ff5c
Autor:
Kelly Jones, Joshua Burns, Alice Theadom, Richard Roxburgh, Erin MacAulay, Gina O’Grady, Miriam Rodrigues, Moneeta Pal, Scott Denton, Ronelle Baker, Braden TE Ao
Publikováno v:
BMJ Open, Vol 9, Iss 6 (2019)
ObjectivesThis population-based study aimed to determine age-standardised prevalence of Charcot-Marie-Tooth disease (CMT) across the lifespan using multiple case ascertainment sources.DesignPoint-prevalence epidemiological study in the Auckland Regio
Externí odkaz:
https://doaj.org/article/88076581d4ac41efa9c949660339a780
Autor:
Salam Alburaiky, Juliet Taylor, Gina O'Grady, Glen Thomson, David Perry, Eleina M. England, Patrick Yap
Publikováno v:
American Journal of Medical Genetics Part A. 188:2460-2465
Autor:
Allan Bayat, Guillem de Valles‐Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino, Annette Bley, Sophie Calvert, Patrick Carney, Alfonso Caro‐Llopis, Berten Ceulemans, Janice Cousin, Suzanne Davis, Vincent des Portes, Patrick Edery, Eleina England, Carlos Ferreira, Jeremy Freeman, Blanca Gener, Magali Gorce, Delphine Heron, Michael S. Hildebrand, Aleksandra Jezela‐Stanek, Pierre‐Simon Jouk, Boris Keren, Katja Kloth, Gerhard Kluger, Marius Kuhn, Johannes R. Lemke, Hong Li, Francisco Martinez, Caroline Maxton, Heather C. Mefford, Giuseppe Merla, Hanna Mierzewska, Alison Muir, Sandra Monfort, Joost Nicolai, Jennifer Norman, Gina O'Grady, Barbara Oleksy, Carmen Orellana, Laura Elena Orec, Charlotte Peinhardt, Ewa Pronicka, Monica Rosello, Fernando Santos‐Simarro, Eva Maria Christina Schwaibold, Alexander P. A. Stegmann, Constance T. Stumpel, Elzbieta Szczepanik, Iwona Terczyńska, Julien Thevenon, Andreas Tzschach, Patrick Van Bogaert, Roberta Vittorini, Sonja Walsh, Sarah Weckhuysen, Barbara Weissman, Lynne Wolfe, Alexandre Reymond, Pasquelena De Nittis, Annapurna Poduri, Heather Olson, Pasquale Striano, Gaetan Lesca, Ingrid E. Scheffer, Rikke S. Møller, Lynette G. Sadleir
Publikováno v:
Epilepsia, 63(4), 974-991. Wiley
Epilepsia
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, des Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, M S, Jezela-Stanek, A, Jouk, P S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, J R, Li, H, Martinez, F, Maxton, C, Mefford, H C, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, L E, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, E M C, Stegmann, A P A, Stumpel, CT, Szczepanik, E, Terczyńska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, I E, Møller, R S & Sadleir, L G 2022, ' PIGN encephalopathy : Characterizing the epileptology ', Epilepsia, vol. 63, no. 4, pp. 974-991 . https://doi.org/10.1111/epi.17173
Epilepsia
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, des Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, M S, Jezela-Stanek, A, Jouk, P S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, J R, Li, H, Martinez, F, Maxton, C, Mefford, H C, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, L E, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, E M C, Stegmann, A P A, Stumpel, CT, Szczepanik, E, Terczyńska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, I E, Møller, R S & Sadleir, L G 2022, ' PIGN encephalopathy : Characterizing the epileptology ', Epilepsia, vol. 63, no. 4, pp. 974-991 . https://doi.org/10.1111/epi.17173
OBJECTIVE: Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy. METHODS: We recruited patients with epilepsy d
Autor:
Tamara Dangouloff, Eva Vrščaj, Laurent Servais, Damjan Osredkar, Thierry Adoukonou, Omid Aryani, Nina Barisic, Fahad Bashiri, Laila Bastaki, Afaf Benitto, Tawfeg Ben Omran, Guenther Bernert, Enrico Bertini, Patricia Borde, Peter Born, Rose-Mary Boustani, Nina Butoianu, Claudia Castiglioni, Feriha Catibusic, Sophelia Chan, Yin Hsiu Chien, Kyproula Christodoulou, Donniphat Dejsuphong, Michelle Farrar, Duma Filip, Nathalie Goemans, Kokou Guinhouya, Jana Haberlova, Kinga Hadzsiev, Kristine Hovhannesyan, Pirjo Isohanni, Nelica Ivanovic Radovic, David Jacquier, Alusine Jalloh, Maria Jedrzejowska, Gwen Kandawasvika, Celestin Kaputu, Nfwama Kawatu, Kristin Kernohan, Jan Kirschner, Barbara Klink, Sherry Kodsy, Ange-Eric Kouame-Assouan, Ruzica Kravljanac, Madara Kreile, Ivan Litvinenko, Hugh McMillan, Sandra Mesa, Inaam Mohamed, Liljana Muaremoska Kanzoska, Yoram Nevo, Seraphin Nguefack, Kafula Nkole, Gina O'Grady, Declan O'Rourke, Maryam Oskoui, Flavia Piazzon, Dimitri Poddighe, Audrone Prasauskiene, Juan Prieto, Magnhild Rasmussen, Santara Razafindrasata, Narayan Saha, Kayoko Saito, Foksouna Sakadi, Modibo Sangare, Mary Schroth, Leanid Shalkevich, Andriy Shatillo, Renu Suthar, Lena Szabo, Nana Tatishvili, Meriem Tazir, Eduardo Tizzano, Haluk Topaloglu, Mar Tulinius, Ludo van der Pol, Gabriel Vazquez, Dimitry Vlodavets, Jithangi Wanigasinghe, Jo Wilmshurst, Hui Xiong, Dimitrios Zafeiriou, Eleni Zamba
Publikováno v:
Neuromuscular Disorders. 31:574-582
Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying treatments have recently been approved and early treatment has been related to a better outcome. In this context, several newborn screening (NBS) programs have bee
Autor:
Cuiping Hou, Kathleen M. Loomes, Erum A. Hartung, Diana J. Slater, Tamir Diamond, Courtney Vaccaro, Sanmati Cuddapah, Alanna Strong, Evelyn K. Shih, Anne Marie Cahill, Gina O'Grady, Deborah Watson, Jonathan R Bishop, Hakon Hakonarson, Dong Li, William Wong
Publikováno v:
American Journal of Medical Genetics. Part a
Ring‐finger protein 213 (RNF213) encodes a protein of unknown function believed to play a role in cellular metabolism and angiogenesis. Gene variants are associated with susceptibility to moyamoya disease. Here, we describe two children with moyamo
Autor:
Alice, Theadom, Miriam, Rodrigues, Annemarei, Ranta, Gemma, Poke, Donald, Love, Kelly, Jones, Braden Te, Ao, Graeme, Hammond-Tooke, Priya, Parmar, Gina, O'Grady, Richard, Roxburgh
Publikováno v:
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation. 31(6)
To determine the impact of genetic muscle disorders and identify the sociodemographic, illness, and symptom factors influencing quality of life.Adults (aged 16-90 years) with a confirmed clinical or molecular diagnosis of a genetic muscle disorder id
Autor:
Ana Topf, Irina Zaharieva, Valeria Di Leo, Anna Vihola, Neha Wali, Marco Savarese, Kristen Laricchia, Cristina Venturini, Bas Vroling, Beryl Cummings, Rita Barresi, Elizabeth Harris, Chiara Marini Bettolo, Dan Cox, Jennifer Duff, Eleina England, Jane Patrick, Valerie Biancalana, Shobhana Bommireddipalli, Carsten Bonnemann, Anita Cairns, Mei Chiew, Kristl G. Claeys, Sandra Cooper, Mark R. Davis, Sandra Donkervoort, Corrie E. Erasmus, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xaviere Lornage, Wolfgang Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Marti, Tiziana Mongini, Nuria Muelas, Atsuko Nishikawa, Narumi Ogonuki, Gina O'Grady, Stephanie Paquay, Rahul Phadke, Beth Pletcher, Norma Romero, Meyke Schouten, Snehal Shah, Yves Sznajer, Giorgio Tasca, Allysa Tuite, Peter van den Bergh, Nicol Voermans, Julia Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Vilchez, Daniel Macarthur, Anna Sarkozy, Bjarne Udd, Elisabeth Busch-Nentwich, Francesco Muntoni, Volker Straub
Publikováno v:
SSRN Electronic Journal.