A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers‐Danlos syndrome: A case report and literature review
El Sherif, Rasha, Saito, Yoshihiko, Hussein, Rasha S., Izu, Yayoi, Koch, Manuel, Noguchi, Satoru, Nishino, Ichizo
Published in Neuropathology and applied neurobiology (01.08.2024)
Published in Neuropathology and applied neurobiology (01.08.2024)
Get full text
Journal Article
Expression of aquaporin gene (Os PIP1-3) in salt-stressed rice (Oryzasativa L.) plants pre-treated with the neurotransmitter (dopamine)
Amal F Abdelkader, Sahar El-khawas, Nahla Amin Safaa El-Din El-Sherif, Raifa A Hassanein, Manal Asem Emam, Rasha El-Sherif Hassan
Published in Plant omics (01.11.2012)
Get full text
Published in Plant omics (01.11.2012)
Journal Article
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Wood, Libby, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura Cecilia, Dai, Yi, Dawkins, Hugh, Manera, Jorge Alberto Diaz, Dogan, Celine, El Sherif, Rasha, Fossati, Barbara, Graham, Caroline, Hilbert, James, Kastreva, Kristinia, Kimura, En, Korngut, Lawrence, Kostera-Pruszczyk, Anna, Lindberg, Christopher, Lindvall, Bjorn, Luebbe, Elizabeth, Lusakowska, Anna, Mazanec, Radim, Meola, Giovani, Orlando, Liannna, Takahashi, Masanori P, Peric, Stojan, Puymirat, Jack, Rakocevic-Stojanovic, Vidosava, Rodrigues, Miriam, Roxburgh, Richard, Schoser, Benedikt, Segovia, Sonia, Shatillo, Andriy, Thiele, Simone, Tournev, Ivailo, van Engelen, Baziel, Vohanka, Stanislav, Lochmüller, Hanns
Published in Orphanet journal of rare diseases (05.09.2018)
Published in Orphanet journal of rare diseases (05.09.2018)
Get full text
Journal Article
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
Wood, Libby, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura Cecilia, Dai, Yi, Dawkins, Hugh, Díaz-Manera, Jordi, Dogan, Celine, El Sherif, Rasha, Fossati, Barbara, Graham, Caroline, Hilbert, James, Kastreva, Kristinia, Kimura, En, Korngut, Lawrence, Kostera-Pruszczyk, Anna, Lindberg, Christopher, Lindvall, Bjorn, Luebbe, Elizabeth, Lusakowska, Anna, Mazanec, Radim, Meola, Giovani, Orlando, Liannna, Takahashi, Masanori P, Peric, Stojan, Puymirat, Jack, Rakocevic-Stojanovic, Vidosava, Rodrigues, Miriam, Roxburgh, Richard, Schoser, Benedikt, Segovia, Sonia, Shatillo, Andriy, Thiele, Simone, Tournev, Ivailo, van Engelen, Baziel, Vohanka, Stanislav, Lochmüller, Hanns
Published in Orphanet journal of rare diseases (15.08.2019)
Published in Orphanet journal of rare diseases (15.08.2019)
Get full text
Journal Article
Polymerase Chain Reaction-guided Diagnosis of Infective Keratitis - A Hospital based Study
Abu Eleinen, Khaled Gamal, Mohalhal, Ahmad Abdalla, Elmekawy, Hany Elmekawy, Abdulbaki, Ahmad M., Sherif, Ahmad Mohammad, El-Sherif, Rasha H., Abdul Rahman, Eiman M.
Published in Current eye research (01.11.2012)
Published in Current eye research (01.11.2012)
Get full text
Journal Article
A 53‐year‐old man with a 16‐year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging
Tanboon, Jantima, El Sherif, Rasha, Inoue, Michio, Okubo, Mariko, Malfatti, Edoardo, Nishino, Ichizo
Published in Brain pathology (Zurich, Switzerland) (01.09.2023)
Published in Brain pathology (Zurich, Switzerland) (01.09.2023)
Get full text
Journal Article
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Bladen, Catherine L., Salgado, David, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Janusz, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A. Ayşe, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Bellgard, Matthew I., Kirschner, Jan, Flanigan, Kevin M., Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, Lochmüller, Hanns
Published in Human mutation (01.04.2015)
Published in Human mutation (01.04.2015)
Get full text
Journal Article
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD
El Sherif, Rasha, Saito, Yoshihiko, Awaya, Tomonari, Noguchi, Satoru, Nishino, Ichizo
Published in Neurology. Genetics (01.04.2024)
Published in Neurology. Genetics (01.04.2024)
Get full text
Journal Article
Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B
Okubo, Mariko, Iida, Aritoshi, Hayashi, Shinichiro, Mori-Yoshimura, Madoka, Oya, Yasushi, Watanabe, Akihiro, Arahata, Hajime, El Sherif, Rasha, Noguchi, Satoru, Nishino, Ichizo
Published in Journal of the neurological sciences (15.12.2018)
Published in Journal of the neurological sciences (15.12.2018)
Get full text
Journal Article
A form of muscular dystrophy associated with pathogenic variants in JAG2
Coppens, Sandra, Barnard, Alison M., Puusepp, Sanna, Pajusalu, Sander, Õunap, Katrin, Vargas-Franco, Dorianmarie, Bruels, Christine C., Donkervoort, Sandra, Pais, Lynn, Chao, Katherine R., Goodrich, Julia K., England, Eleina M., Weisburd, Ben, Ganesh, Vijay S., Gudmundsson, Sanna, O’Donnell-Luria, Anne, Nigul, Mait, Ilves, Pilvi, Mohassel, Payam, Siddique, Teepu, Milone, Margherita, Nicolau, Stefan, Maroofian, Reza, Houlden, Henry, Hanna, Michael G., Quinlivan, Ros, Beiraghi Toosi, Mehran, Ghayoor Karimiani, Ehsan, Costagliola, Sabine, Deconinck, Nicolas, Kadhim, Hazim, Macke, Erica, Lanpher, Brendan C., Klee, Eric W., Łusakowska, Anna, Kostera-Pruszczyk, Anna, Hahn, Andreas, Schrank, Bertold, Nishino, Ichizo, Ogasawara, Masashi, El Sherif, Rasha, Stojkovic, Tanya, Nelson, Isabelle, Bonne, Gisèle, Cohen, Enzo, Boland-Augé, Anne, Deleuze, Jean-François, Meng, Yao, Töpf, Ana, Vilain, Catheline, Pacak, Christina A., Rivera-Zengotita, Marie L., Bönnemann, Carsten G., Straub, Volker, Handford, Penny A., Draper, Isabelle, Walter, Glenn A., Kang, Peter B.
Published in American journal of human genetics (06.05.2021)
Published in American journal of human genetics (06.05.2021)
Get full text
Journal Article
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Koeks, Zaïda, Bladen, Catherine L, Salgado, David, van Zwet, Erik, Pogoryelova, Oksana, McMacken, Grace, Monges, Soledad, Foncuberta, Maria E, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Bellgard, Matthew I, Roy, Anna J, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lähdetie, Jaana, Walter, Maggie C, Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Ferlini, Alessandra, Kimura, En, van den Bergen, Janneke C, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Klein, Andrea, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A Ayşe, Oznur, Tunca, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V, Martin, Ann S, Peay, Holly L, Kirschner, Jan, Flanigan, Kevin M, Straub, Volker, Bushby, Kate, Béroud, Christophe, Verschuuren, Jan J, Lochmüller, Hanns
Published in Journal of neuromuscular diseases (21.11.2017)
Published in Journal of neuromuscular diseases (21.11.2017)
Get more information
Journal Article
Virulent Escherichia coli strains among Egyptian patients with acute diarrhoea versus urinary tract infection, and their antibiotic susceptibility
Tharwat, Nagwa, El-Sherif, Rasha, Elnagdy, Sherif, Marzaban, Raghda, Amer, Sabah
Published in Arab journal of gastroenterology (01.06.2019)
Published in Arab journal of gastroenterology (01.06.2019)
Get full text
Journal Article
A form of muscular dystrophy associated with pathogenic variants in JAG2
Coppens, Sandra, Barnard, Alison M., Puusepp, Sanna, Pajusalu, Sander, Õunap, Katrin, Vargas-Franco, Dorianmarie, Bruels, Christine C., Donkervoort, Sandra, Pais, Lynn, Chao, Katherine R., Goodrich, Julia K., England, Eleina M., Weisburd, Ben, Ganesh, Vijay S., Gudmundsson, Sanna, O’Donnell-Luria, Anne, Nigul, Mait, Ilves, Pilvi, Mohassel, Payam, Siddique, Teepu, Milone, Margherita, Nicolau, Stefan, Maroofian, Reza, Houlden, Henry, Hanna, Michael G., Quinlivan, Ros, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Costagliola, Sabine, Deconinck, Nicolas, Kadhim, Hazim, Macke, Erica, Lanpher, Brendan C., Klee, Eric W., Łusakowska, Anna, Kostera-Pruszczyk, Anna, Hahn, Andreas, Schrank, Bertold, Nishino, Ichizo, Ogasawara, Masashi, El Sherif, Rasha, Stojkovic, Tanya, Nelson, Isabelle, Bonne, Gisèle, Cohen, Enzo, Boland-Augé, Anne, Deleuze, Jean-François, Meng, Yao, Töpf, Ana, Vilain, Catheline, Pacak, Christina A., Rivera-Zengotita, Marie L., Bönnemann, Carsten G., Straub, Volker, Handford, Penny A., Draper, Isabelle, Walter, Glenn A., Kang, Peter B.
Published in American journal of human genetics (03.06.2021)
Published in American journal of human genetics (03.06.2021)
Get full text
Journal Article