Search Results - "Elbendary, Hasnaa M."

First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease by Elaraby, Nesma M., Galal, Eman Reda, Abdel-Hamid, Mohamed, Elbendary, Hasnaa M., Elbadry, Mohamed, Mekkawy, Mona K., Ashaat, Neveen A., Mounir, Samir M., Ashaat, Engy A.

“…Lysosomal acid lipase (LAL) is a necessary enzyme for the hydrolysis of both triglycerides (TGs) and cholesteryl esters (CEs) in the lysosome. Deficiency of…”
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Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS by Zaki, Maha S., Sharaf‐Eldin, Wessam E., Rafat, Karima, Elbendary, Hasnaa M., Kamel, Mona, Elkhateeb, Nour, Noureldeen, Mahmoud M., Abdeltawab, Mohamed A., Sadek, Abdelrahim A., Essawi, Mona L., Lau, Tracy, Murphy, David, Abdel‐Hamid, Mohamed S., Holuden, Henry, Issa, Mahmoud Y., Gleeson, Joseph G.

“…This study presents 46 patients from 23 unrelated Egyptian families with ALS2‐related disorders without evidence of lower motor neuron involvement. Age at…”
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El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype by Almannai, Mohammed, Marafi, Dana, Abdel‐Salam, Ghada M. H., Zaki, Maha S., Duan, Ruizhi, Calame, Daniel, Herman, Isabella, Levesque, Felix, Elbendary, Hasnaa M., Hegazy, Ibrahim, Chung, Wendy K., Kavus, Haluk, Saeidi, Kolsoum, Maroofian, Reza, AlHashim, Aqeela, Al‐Otaibi, Ali, Al Madhi, Asma, Abou Al‐Seood, Hager M., Alasmari, Ali, Houlden, Henry, Gleeson, Joseph G., Hunter, Jill V., Posey, Jennifer E., Lupski, James R., El‐Hattab, Ayman W.

“…Homozygous pathogenic variants in WDR45B were first identified in six subjects from three unrelated families with global development delay, refractory…”
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Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families by Issa, Mahmoud Y, Chechlacz, Zinayida, Stanley, Valentina, George, Renee D, McEvoy-Venneri, Jennifer, Belandres, Denice, Elbendary, Hasnaa M, Gaber, Khaled R, Nabil, Ahmed, Abdel-Hamid, Mohamed S, Zaki, Maha S, Gleeson, Joseph G

“…The causes for thousands of individually rare recessive diseases have been discovered since the adoption of next generation sequencing (NGS). Following the…”
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Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations by Elhossini, Rasha M., Elbendary, Hasnaa M., Rafat, Karima, Ghorab, Raghda M., Abdel-Hamid, Mohamed S.

“…Spondyloenchondrodysplasia (SPENCD) is an immune-osseous disorder caused by biallelic variants in ACP5 gene and is less commonly associated with neurological…”
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Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy by Sharaf-Eldin, Wessam E., Rafat, Karima, Issa, Mahmoud Y., Elbendary, Hasnaa M., Eissa, Noura R., Hawaary, Bahaa, Gaboon, Nagwa E. A., Maroofian, Reza, Gleeson, Joseph G., Essawi, Mona L., Zaki, Maha S.

“…Collagen VI-related dystrophies (COL6-RD) display a wide spectrum of disease severity and genetic variability ranging from mild Bethlem myopathy (BM) to severe…”
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The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders by Sidpra, Jai, Sudhakar, Sniya, Biswas, Asthik, Massey, Flavia, Turchetti, Valentina, Lau, Tracy, Cook, Edward, Alvi, Javeria Raza, Elbendary, Hasnaa M, Jewell, Jerry L, Riva, Antonella, Orsini, Alessandro, Vignoli, Aglaia, Federico, Zara, Rosenblum, Jessica, Schoonjans, An-Sofie, de Wachter, Matthias, Delgado Alvarez, Ignacio, Felipe-Rucián, Ana, Haridy, Nourelhoda A, Haider, Shahzad, Zaman, Mashaya, Banu, Selina, Anwaar, Najwa, Rahman, Fatima, Maqbool, Shazia, Yadav, Rashmi, Salpietro, Vincenzo, Maroofian, Reza, Patel, Rajan, Radhakrishnan, Rupa, Prabhu, Sanjay P, Lichtenbelt, Klaske, Stewart, Helen, Murakami, Yoshiko, Löbel, Ulrike, D'Arco, Felice, Wakeling, Emma, Jones, Wendy, Hay, Eleanor, Bhate, Sanjay, Jacques, Thomas S, Mirsky, David M, Whitehead, Matthew T, Zaki, Maha S, Sultan, Tipu, Striano, Pasquale, Jansen, Anna C, Lequin, Maarten, de Vries, Linda S, Severino, Mariasavina, Edmondson, Andrew C, Menzies, Lara, Campeau, Philippe M, Houlden, Henry, McTague, Amy, Efthymiou, Stephanie, Mankad, Kshitij

“…Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in…”
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Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits by Elbendary, Hasnaa M., Marafi, Dana, Saad, Ahmed K., Elhossini, Rasha, Duan, Ruizhi, Rafat, Karima, Jhangiani, Shalini N., Gibbs, Richard A., Pehlivan, Davut, Calame, Daniel G., Posey, Jennifer E., Lupski, James R., Zaki, Maha S.

“…Pathogenic biallelic variants in LSS are associated with three Mendelian rare disease traits including congenital cataract type 44, autosomal recessive…”
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Erratum to ’ Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission’ [Seizure Volume 106, March 2023, Pages 68-75] by Aledo-Serrano, Angel, Battaglia, Giulia, Blenkinsop, Stephen, Delanty, Norman, Elbendary, Hasnaa M, Eyal, Sara, Guekht, Alla, Gulcebi, Medine I, Henshall, David C, Hildebrand, Michael S., Macrohon, Bernadette, Madaan, Priyanka, Mifsud, Janet, Mills, James D., Neill, Kathryn Hodgson, Romagnolo, Alessia, Vezzani, Annamaria, Sisodiya, Sanjay M

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Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy by Saad, Ahmed K, Marafi, Dana, Mitani, Tadahiro, Jolly, Angad, Du, Haowei, Elbendary, Hasnaa M, Jhangiani, Shalini N, Akdemir, Zeynep C, Gibbs, Richard A, Hunter, Jill V, Carvalho, Claudia M B C, Pehlivan, Davut, Posey, Jennifer E, Zaki, Maha S, Lupski, James R

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Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission by Aledo-Serrano, Angel, Battaglia, Giulia, Blenkinsop, Stephen, Delanty, Norman, Elbendary, Hasnaa M, Eyal, Sara, Guekht, Alla, Gulcebi, Medine I, Henshall, David C, Hildebrand, Michael S., Macrohon, Bernadette, Madaan, Priyanka, Mifsud, Janet, Mills, James D., Neill, Kathryn Hodgson, Romagnolo, Alessia, Vezzani, Annamaria, Sisodiya, Sanjay M

“…The release of the 2021 Intergovernmental Panel on Climate Change (IPCC) report makes clear that human activities have resulted in significant alterations in…”
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The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children by Elkhateeb, Nour, Issa, Mahmoud Y, Elbendary, Hasnaa M, Elnaggar, Walaa, Ramadan, Areef, Rafat, Karima, Kamel, Mona, Abdel-Ghafar, Sherif F, Amer, Fawzia, Hassaan, Hebatallah M, Trunzo, Roberta, Pereira, Catarina, Abdel-Hamid, Mohamed S, D'Arco, Felice, Bauer, Peter, Bertoli-Avella, Aida M, Girgis, Marian, Gleeson, Joseph G, Zaki, Maha S, Selim, Laila

“…Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of epilepsies characterized by early-onset, refractory seizures associated with…”
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Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) by Bramswig, Nuria C., Bertoli-Avella, Aida M., Albrecht, Beate, Al Aqeel, Aida I., Alhashem, Amal, Al-Sannaa, Nouriya, Bah, Maissa, Bröhl, Katharina, Depienne, Christel, Dorison, Nathalie, Doummar, Diane, Ehmke, Nadja, Elbendary, Hasnaa M., Gorokhova, Svetlana, Héron, Delphine, Horn, Denise, James, Kiely, Keren, Boris, Kuechler, Alma, Ismail, Samira, Issa, Mahmoud Y., Marey, Isabelle, Mayer, Michèle, McEvoy-Venneri, Jennifer, Megarbane, Andre, Mignot, Cyril, Mohamed, Sarar, Nava, Caroline, Philip, Nicole, Ravix, Cecile, Rolfs, Arndt, Sadek, Abdelrahim Abdrabou, Segebrecht, Lara, Stanley, Valentina, Trautman, Camille, Valence, Stephanie, Villard, Laurent, Wieland, Thomas, Engels, Hartmut, Strom, Tim M., Zaki, Maha S., Gleeson, Joseph G., Lüdecke, Hermann-Josef, Bauer, Peter, Wieczorek, Dagmar

“…NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is…”
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Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking by Duan, Ruizhi, Marafi, Dana, Xia, Zhi-Jie, Ng, Bobby G, Maroofian, Reza, Sumya, Farhana Taher, Saad, Ahmed K, Du, Haowei, Fatih, Jawid M, Hunter, Jill V, Elbendary, Hasnaa M, Baig, Shahid M, Abdullah, Uzma, Ali, Zafar, Efthymiou, Stephanie, Murphy, David, Mitani, Tadahiro, Withers, Marjorie A, Jhangiani, Shalini N, Coban-Akdemir, Zeynep, Calame, Daniel G, Pehlivan, Davut, Gibbs, Richard A, Posey, Jennifer E, Houlden, Henry, Lupashin, Vladimir V, Zaki, Maha S, Freeze, Hudson H, Lupski, James R

“…Biallelic variants in genes for seven out of eight subunits of the conserved oligomeric Golgi complex (COG) are known to cause recessive congenital disorders…”
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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome by Donkervoort, Sandra, Mohassel, Payam, Laugwitz, Lucia, Zaki, Maha S., Kamsteeg, Erik‐Jan, Maroofian, Reza, Chao, Katherine R., Verschuuren‐Bemelmans, Corien C., Horber, Veronka, Fock, Annemarie J. M., McCarty, Riley M., Jain, Minal S., Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C., Elbendary, Hasnaa M., Snyder, Molly, Cai, Chunyu, Lehky, Tanya J., Stanley, Valentina, Iannaccone, Susan T., Foley, A. Reghan, Lochmüller, Hanns, Gleeson, Joseph, Houlden, Henry, Haack, Tobias B., Horvath, Rita, Bönnemann, Carsten G.

“…Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve…”
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A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder by Zaki, Maha S., Issa, Mahmoud Y., Thomas, Manal M., Elbendary, Hasnaa M., Rafat, Karima, Al Menabawy, Nihal M., Selim, Laila A., Ismail, Samira, Abdel-Salam, Ghada M., Gleeson, Joseph G.

“…At least 14 distinctive PEX genes function in the biogenesis of peroxisomes. Biallelic alterations in the peroxisomal biogenesis factor 12 ( PEX12 ) gene lead…”
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Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects by Abdel-Hamid, Mohamed S, Issa, Mahmoud Y, Elbendary, Hasnaa M, Abdel-Ghafar, Sherif F, Rafaat, Karima, Hosny, Heba, Girgis, Marian, Abdel-Salam, Ghada M H, Zaki, Maha S

“…Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disorder characterized by congenital ichthyosis, spastic diplegia and intellectual disability. It is an…”
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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder by Kour, Sukhleen, Rajan, Deepa S., Fortuna, Tyler R., Anderson, Eric N., Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S., Barnett, Sarah S., Cousin, Margot A., Castro, Diana, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H., Rajasundaram, Dhivyaa, Innes, A. Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail, Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Nathalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja K., Urreizti, Roser, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R., Landers, John E., Agnihotri, Sameer, Andriescu, E. Corina, Moody, Shade B., Phornphutkul, Chanika, Sacoto, Maria J. Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M., Leiz, Steffen, Juliette, Kali, Richardson, Randal, Yang, Ying, Zhang, Yuehua, Wang, Minghui, Wang, Jia, Wang, Xiaodong, Platzer, Konrad, Donkervoort, Sandra, Bönnemann, Carsten G., Wagner, Matias, Issa, Mahmoud Y., Elbendary, Hasnaa M., Stanley, Valentina, Maroofian, Reza, Gleeson, Joseph G., Zaki, Maha S., Senderek, Jan, Pandey, Udai Bhan

“…GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear…”
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Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals by Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O’Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma, Guler, Serhat, Hull, Mariam, Parnes, Mered, Aktas, Dilek, Anlar, Banu, Bayram, Yavuz, Pehlivan, Davut, Posey, Jennifer E., Alavi, Shahryar, Madani Manshadi, Seyed Ali, Alzaidan, Hamad, Al-Owain, Mohammad, Alabdi, Lama, Abdulwahab, Ferdous, Sekiguchi, Futoshi, Hamanaka, Kohei, Fujita, Atsushi, Uchiyama, Yuri, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Elshafie, Reem M., Salayev, Kamran, Guliyeva, Ulviyya, Alkuraya, Fowzan S., Gleeson, Joseph G., Monaghan, Kristin G., Langley, Katherine G., Yang, Hui, Motavaf, Mahsa, Safari, Saeid, Alipour, Mozhgan, Ogata, Kazuhiro, Brown, André E.X., Lupski, James R., Houlden, Henry, Matsumoto, Naomichi

“…Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant,…”
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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome by Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Aughey, Gabriel N., Al Mutairi, Fuad, Accogli, Andrea, Zara, Federico, Tariq, Huma, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, El Said, Huda G., Al Shalan, Maha, Khang, Rin, Elbendary, Hasnaa M., Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Hannah, Michael G., Bertini, Enrico, Aguennouz, Mhammed, Groppa, Stanislav, Kathom, Hadil, Tincheva, Radka, Verrotti, Alberto, Macaya, Alfons, Garavaglia, Barbara, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Rana, Nuzhat N., Atawneh, Osama, Zuccotti, Gian V., Marseglia, Gian L., Shaikh, Farooq, Corsello, Giovanni, Mangano, Salvatore, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Zollo, Massimo, Berni-Canani, Roberto, Sisto, Antonio, Strano, Federica, Di Francesco, Ludovica, Salayev, Kamran, Xiromerisiou, Georgia, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Di Rosa, Gabriella, Pettoello-Mantovani, Massimo, Tazir, Meriem, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Saadi, Nebal W., Maccarone, Rita, Kara, Majdi, Karimiani, Ehsan G., Seri, Marco, Di-Falco, Giovanna, Barrano, Giuseppe, Operto, Francesca F., Valenzise, Mariella, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Shashkin, Chingiz, Koneyev, Kairgali, Pagnamenta, Alistair T., Corsello, Antonio, Dallapiccola, Bruno, Alobeid, Eman, Mankad, Kshitij, Ghayoor-Karimiani, Ehsan, Chung, Wendy K., Green, Rachel, Alkuraya, Fowzan S., Jepson, James E.C., Houlden, Henry

“…The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were…”
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