Search Results - Mahmoud Y. Issa
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1
<i>PYCR2</i> Mutations cause a lethal syndrome of microcephaly and failure to thrive by Maha S. Zaki, Gifty Bhat, Tipu Sultan, Mahmoud Y. Issa, Hea‐Jin Jung, Esra Dikoglu, Laila Selim, Imam G. Mahmoud, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Isaac Marin‐Valencia, Joseph G. Gleeson
Published 2016Artigo -
2
A homozygous founder mutation in<i>TRAPPC6B</i>associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features by Isaac Marin‐Valencia, Gaia Novarino, Anide Johansen, Başak Rosti, Mahmoud Y. Issa, Damir Musaev, Gifty Bhat, Eric Scott, Jennifer L. Silhavy, Valentina Stanley, Rasim Özgür Rosti, Jeremy W Gleeson, Farhad Imam, Maha S. Zaki, Joseph G. Gleeson
Published 2017Artigo -
3
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia by Isaac Marin‐Valencia, Andreas Gerondopoulos, Maha S. Zaki, Tawfeg Ben‐Omran, Mariam Almureikhi, Ercan Demir, Alicia Guemez‐Gamboa, Anne Gregor, Mahmoud Y. Issa, Bart Appelhof, Susanne Roosing, Damir Musaev, Başak Rosti, Sara A. Wirth, Valentina Stanley, Frank Baas, Francis A. Barr, Joseph G. Gleeson
Published 2017Artigo -
4
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia by Periklis Makrythanasis, Mitsuhiro Kato, Maha S. Zaki, Hirotomo Saitsu, Kazuyuki Nakamura, Federico Santoni, Satoko Miyatake, Mitsuko Nakashima, Mahmoud Y. Issa, Michel Guipponi, Audrey Letourneau, Clare V. Logan, Nicola Roberts, David Parry, Colin A. Johnson, Naomichi Matsumoto, Hanan Hamamy, Eamonn Sheridan, Taroh Kinoshita, Stylianos E. Antonarakis, Yoshiko Murakami
Published 2016Artigo -
5
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects by Roberta De Mori, Marta Romani, Stefano D’Arrigo, Maha S. Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joël Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y. Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa’na Leggins, Susanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia M.S. Mancini, Enrico Bertini, William B. Dobyns, Tommaso Mazza, Joseph G. Gleeson, Enza Maria Valente
Published 2017Artigo -
6
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy by Jennifer Friedman, Desirée E.C. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing‐Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek Omar, Tawfeg Ben‐Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson
Published 2019Artigo -
7
Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function by Monica Zilmer, Andrew C. Edmondson, Sumeet A. Khetarpal, Viola Alesi, Maha S. Zaki, Kevin Rostásy, Charlotte Madsen, Francesca Romana Lepri, Lorenzo Sinibaldi, Raffaella Cusmai, Antonio Novelli, Mahmoud Y. Issa, Christina Fenger, Rami Abou Jamra, Heiko Reutter, Silvana Briuglia, Emanuele Agolini, Lars Hestbjerg Hansen, Ulla E. Petäjä‐Repo, John Hintze, Kimiyo Raymond, Kristen Liedtke, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Cecilia Vitali, William T. O’Brien, Elena Gardella, Guido Rubboli, Daniel J. Rader, Katrine T. Schjoldager, Rikke S. Møller
Published 2020Artigo -
8
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy by Clara D.M. van Karnebeek, Rúben J. Ramos, Xiao‐Yan Wen, Maja Tarailo‐Graovac, Joseph G. Gleeson, Cristina Skrypnyk, Koroboshka Brand‐Arzamendi, Farhad Karbassi, Mahmoud Y. Issa, Robin van der Lee, Britt I. Drögemöller, Janet Koster, Justine Rousseau, Philippe M. Campeau, Youdong Wang, Feng Cao, Meng Li, Jos P.N. Ruiter, Jolita Čiapaitė, Leo A. J. Kluijtmans, Michèl A.A.P. Willemsen, Judith Jans, Colin J.D. Ross, Liesbeth T. Wintjes, Richard J. Rodenburg, Marleen C.D.G. Huigen, Zhengping Jia, Hans R. Waterham, Wyeth W. Wasserman, Ronald J. A. Wanders, Nanda M. Verhoeven‐Duif, Maha S. Zaki, Ron A. Wevers
Published 2019Artigo -
9
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly by Guoliang Chai, A. Dinsmoor Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss, Nhi Lang, Valentina Stanley, Paula Anzenberg, Xiaoxu Yang, Trevor G Marshall, Patrick M. Gaffney, Klaas J. Wierenga, Brian Hon‐Yin Chung, Mandy Ho‐Yin Tsang, Lynn Pais, Alysia Kern Lovgren, Grace E. VanNoy, Heidi L. Rehm, Ghayda Mirzaa, Eyby Leon, Jullianne Diaz, Alexander Neumann, Arnout P. Kalverda, Iain W. Manfield, David Parry, Clare V. Logan, Colin A. Johnson, David T. Bonthron, Elizabeth M. A. Valleley, Mahmoud Y. Issa, Sherif F. Abdel‐Ghafar, Mohamed S. Abdel‐Hamid, Patricia A. Jennings, Maha S. Zaki, Eamonn Sheridan, Joseph G. Gleeson
Published 2020Artigo -
10
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) by Nuria C. Bramswig, Aida M. Bertoli‐Avella, Beate Albrecht, Aida I. Al Aqeel, Amal Alhashem, Nouriya Al‐Sannaa, Maissa Bah, Katharina Bröhl, Christel Depienne, Nathalie Dorison, Diane Doummar, Nadja Ehmke, Hasnaa M. Elbendary, Svetlana Gorokhova, Delphine Héron, Denise Horn, Kiely N. James, Boris Keren, Alma Kuechler, Samira Ismail, Mahmoud Y. Issa, Isabelle Marey, M. Mayer, Jennifer McEvoy‐Venneri, André Mégarbané, Cyril Mignot, Sarar Mohamed, Caroline Nava, Nicole Philip, C. Mignon Ravix, Arndt Rolfs, Abdelrahim A. Sadek, Lara Segebrecht, Valentina Stanley, Camille Trautman, Stéphanie Valence, Laurent Villard, Thomas Wieland, Hartmut Engels, Tim M. Strom, Maha S. Zaki, Joseph G. Gleeson, Hermann‐Josef Lüdecke, Peter Bauer, Dagmar Wieczorek
Published 2018Artigo -
11
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome by Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal, Ana Rivera‐Barahona, Patricia Soto‐Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci‐Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Céline Huber, Dominique Bonneau, Michael S. Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F. Bennett, Amy L. Schneider, Ingrid E. Scheffer, Maria Kibæk, Britta Schlott Kristiansen, Mahmoud Y. Issa, Mennat Mehrez, Samira Ismail, Jair Tenorio, Gaoyang Li, Bjørn Steen Skålhegg, Ghada A. Otaify, Samia A. Temtamy, Mona Aglan, Aia Elise Jønch, Alessandro De Luca, Geert Mortier, Valérie Cormier‐Daire, Alban Ziegler, Mathew Wallis, Pablo Lapunzina, Friedrich W. Herberg, Susan S. Taylor, Víctor L. Ruiz‐Pérez
Published 2020Artigo -
12
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders by Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy, Andrew Heiberg, Mostafa Abdellateef, Başak Rosti, Eric Scott, Lobna Mansour, Amira Masri, Hülya Kayserili, Jumana Y. Al‐Aama, Ghada M. H. Abdel‐Salam, Ariana Karminejad, Majdi Kara, Bülent Kara, Babak Bozorgmehri, Tawfeg Ben‐Omran, Faezeh Mojahedi, Iman G. Mahmoud, Naïma Bouslam, Ahmed Bouhouche, Ali Benomar, Sylvain Hanein, Laure Raymond, Sylvie Forlani, Massimo Mascaro, Laila Selim, Nabil Shehata, Nasir Al‐Allawi, Parayil Sankaran Bindu, Matloob Azam, Murat Günel, Ahmet Okay Çağlayan, Kaya Bilgüvar, Aslıhan Tolun, Mahmoud Y. Issa, Jana Schroth, Emily Spencer, Rasim Özgür Rosti, Naiara Akizu, Keith K. Vaux, Anide Johansen, Alice A. Koh, Hisham Megahed, Alexandra Dürr, Alexis Brice, Giovanni Stévanin, Stacy Gabriel, Trey Ideker, Joseph G. Gleeson
Published 2014Artigo -
13
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model by Ruizhi Deng, Eva Medico Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Čapo, Evita Medici‐ van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy L. Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed A. AlMuhaizea, Dilek Çolak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli‐Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Y. Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat
Published 2023Artigo -
14
Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration by Vandana Shashi, Maria M. Magiera, Dennis Klein, Maha S. Zaki, Kelly Schoch, Sabine Rudnik–Schöneborn, Andrew Norman, Osório Lopes Abath Neto, Marina Dusl, Xidi Yuan, Luca Bartesaghi, Patrizia De Marco, Ahmed Alfares, Ronit Marom, Stefan T. Arold, Francisco J. Guzmán‐Vega, Loren Peña, Edward C. Smith, Maja Steinlin, Mohamed OE Babiker, Payam Mohassel, A. Reghan Foley, Sandra Donkervoort, Rupleen Kaur, Partha S. Ghosh, Valentina Stanley, Damir Musaev, Caroline Nava, Cyril Mignot, Boris Keren, Marcello Scala, Elisa Tassano, Paolo Picco, Paola Doneda, Chiara Fiorillo, Mahmoud Y. Issa, Ali H. Alassiri, Ahmed Alahmad, Amanda Gerard, Pengfei Liu, Yaping Yang, Birgit Ertl‐Wagner, Peter G. Kranz, Ingrid M. Wentzensen, Rolf Stucka, Nicholas Stong, Andrew S. Allen, David B. Goldstein, Benedikt Schoser, Kai M. Rösler, Majid Alfadhel, Valeria Capra, Roman Chrast, Tim M. Strom, Erik‐Jan Kamsteeg, Carsten G. Bönnemann, Joseph G. Gleeson, Rudolf Martini, Carsten Janke, Jan Senderek
Published 2018Artigo -
15
The contribution of de novo coding mutations to meningomyelocele by Yoo-Jin Ha, Isaac Tang, Ashna Nisal, Ishani Jhamb, Cassidy Wallace, Sarah Schroeder, Chanjae Lee, Keng Ioi Vong, Naomi Meave, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo Patel, Francisco A. Blanco, Seyoung Yu, Hui Su Jeong, Isaac Plutzer, Michael B. Major, Béatrice Benoit, Christian Poüs, Caleb Heffner, Zoha Kibar, Gyang Markus Bot, Hope Northrup, Kit Sing Au, Madison Strain, Allison E. Ashley‐Koch, Richard H. Finnell, Joan T. Le, Hal Meltzer, Camila Araújo, Hélio Rubens Machado, Roger E. Stevenson, Anna Yurrita, Sara Mumtaz, Osvaldo M. Mutchinick, José Ramón Medina-Bereciartu, Friedhelm Hildebrandt, Gia Melikishvili, Rony Marwan, Valeria Capra, Mahmoud M. Noureldeen, Aida M. S. Salem, Mahmoud Y. Issa, Maha S. Zaki, Ji Eun Lee, Anna Alkelai, Alan R. Shuldiner, Stephen F. Kingsmore, Stephen A. Murray, Heon Yung Gee, W. Todd Miller, Kimberley F. Tolias, John B. Wallingford, Sangwoo Kim, Joseph G. Gleeson
Published 2024Pré-impressão -
16
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features by Teresa Santiago‐Sim, Lindsay C. Burrage, Frédéric Ebstein, Mari Tokita, Marcus J. Miller, Weimin Bi, Alicia Braxton, Jill A. Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna Immken, Rebecca O. Littlejohn, Elizabeth Roeder, Bülent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R. Lemke, Orly Elpeleg, Bassam Abu‐Libdeh, Kiely N. James, Jennifer L. Silhavy, Mahmoud Y. Issa, Maha S. Zaki, Joseph G. Gleeson, John R. Seavitt, Mary E. Dickinson, M. Cecilia Ljungberg, Sara Wells, Sara Johnson, Lydia Teboul, Christine M. Eng, Yaping Yang, Peter‐Michael Kloetzel, Jason D. Heaney, Magdalena Walkiewicz, Zaid Afawi, Rudi Balling, Nina Barišić, Stéphanie Baulac, Dana Craiu, Peter De Jonghe, Rosa Guerrero, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Johanna Jähn, Karl Martin Klein, Eric LeGuern, Holger Lerche, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Katalin Štěrbová, Arvid Suls, Rikke S. Møller, Pasquale Striano, Yvonne G. Weber, Federico Zara
Published 2017Artigo -
17
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder by Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong‐Hee Chae, Murim Choi, Karine Siquier-Pernet, Vincent Cantagrel, Jeanne Amiel, Elliot Stolerman, Sarah Barnett, Margot A. Cousin, Diana Castro, Kimberly S. McDonald, Brian Kirmse, Andrea H. Németh, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle C. Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, I. Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja Kristine Selmer, Roser Urreizti, A. García Oguiza, A. Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah McCurry, John E. Landers, Sameer Agnihotri, Elena Corina Andriescu, Shade Moody, Chanika Phornphutkul, María J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik–Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
Published 2021Artigo -
18
The contribution of de novo coding mutations to meningomyelocele by Yoo-Jin Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace, Robyn E. Howarth, Sarah Schroeder, Keng Ioi Vong, Naomi Meave, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo Patel, Krisha Bagga, Niyati Banka, Linda R. Friedman, Francisco A. Blanco, Seyoung Yu, Sue Goo Rhee, Hui Su Jeong, Isaac Plutzer, Michael B. Major, Béatrice Benoit, Christian Poüs, Caleb Heffner, Zoha Kibar, Gyang Markus Bot, Hope Northrup, Kit Sing Au, Madison Strain, Allison E. Ashley‐Koch, Richard H. Finnell, Joan T. Le, Hal S. Meltzer, Camila Araújo, Hélio Rubens Machado, Roger E. Stevenson, Anna Yurrita, Sara Mumtaz, Awais Ahmed, Maliha Khara, Osvaldo M. Mutchinick, José Ramón Medina-Bereciartu, Friedhelm Hildebrandt, Gia Melikishvili, Ahmed I. Marwan, Valeria Capra, Mahmoud M. Noureldeen, Aida M. S. Salem, Mahmoud Y. Issa, Maha S. Zaki, Libin Xu, Ji Eun Lee, Dong Hyuk Shin, Anna Alkelai, Alan R. Shuldiner, Stephen F. Kingsmore, Stephen A. Murray, Heon Yung Gee, W. Todd Miller, Kimberley F. Tolias, John B. Wallingford, Allison E. Ashley‐Koch, Hal S. Meltzer, Joan T. Le, Kit Sing Au, Philip J. Lupo, Camila Araújo, Tony Magana, Caroline M. Kolvenbach, Shirlee Shril, Yukitoshi Takahashi, Hormos Salimi-Dafsari, H. Westley Phillips, Brian W. Hanak, Bülent Kara, Ayfer Sakarya Güneş, David Gonda, Salman Kirmani, Tinatin Tkemaladze, Sangwoo Kim, Joseph G. Gleeson
Published 2025Artigo -
19
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders by Elisa Calì, Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi, Maha S. Zaki, Mohnish Suri, Roberto Domínguez, Hasnaa M. Elbendary, Shahryar Alavi, Mohamed S. Abdel‐Hamid, Heba Morsy, Frédéric Tran Mau‐Them, Mathilde Nizon, Pavel Tesner, Lukáš Ryba, Faisal Zafar, Nuzhat Rana, Nebal Waill Saadi, Zahra Firoozfar, Pınar Gençpinar, Bülent Ünay, Canan Ustun, Ange‐Line Bruel, Christine Coubes, Jennifer Stefanich, Özlem Sezer, Emanuele Agolini, Antonio Novelli, Gessica Vasco, Donatella Lettori, Mathieu Milh, Laurent Villard, Shimriet Zeidler, Henry Opperman, Vincent Strehlow, Mahmoud Y. Issa, Hebatallah El Khassab, Prem Chand, Shahnaz Ibrahim, Ali Nejad-Rashidi, Mohammad Miryounesi, Pegah Larki, Jennifer Morrison, Ingrid Cristian, Isabelle Thiffault, Nicole Bertsch, Grace Noh, John Pappas, E Morán, Nikolaos M. Marinakis, Joanne Traeger‐Synodinos, Susan Hosseini, Mohammad Reza Abbaszadegan, Roseline Caumes, Lisenka E.L.M. Vissers, Maedeh Neshatdoust, Mostafa Zohour Montazer, Elmostafa El Fahime, Christin Canavati, Lara Kamal, Moien Kanaan, Omar Askander, V. Yu. Voinova, Olga Levchenko, Shahzhad Haider, Sara Halbach, Elias Rayana Maia, Mansoor Salehi, Jain Vivek, Sanjukta Tawde, Viveka Santhosh Reddy Challa, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Lucas Alves Victor, Benito Pinero-Banos, Jennifer Hague, Heba Ahmed Ei-Awady, Adélia Maria de Miranda Henriques‐Souza, Huma Arshad Cheema, Muhammad Nadeem Anjum, Sara Idkaidak, Firas Alqarajeh, Osama Atawneh, Hagar Mor‐Shaked, Tamar Harel, Giovanni Zifarelli, Peter Bauer, Fernando Kok, João Paulo Kitajima, Fabíola Paoli Monteiro, Juliana Alves Josahkian, Gaétan Lesca, Nicolas Chatron, Dorothe Ville, David Murphy, Jeffrey L. Neul, Sureni V. Mullegama, Amber Begtrup
Published 2024Artigo
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