Resultats de la cerca - Moeenaldeen Al‐Sayed

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  1. 1
    Variation in DNAH1 may contribute to primary ciliary dyskinesia

    Variation in DNAH1 may contribute to primary ciliary dyskinesia per Faiqa Imtiaz, Rabab Allam, Khushnooda Ramzan, Moeenaldeen AlSayed

    Publicat 2015
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  2. 2
    Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the<i>ARSB</i>gene

    Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the<i>ARSB</i>gene per Rosella Tomanin, Litsa Karageorgos, Alessandra Zanetti, Moeenaldeen AlSayed, Mitch Bailey, Nicole L. Miller, Hitoshi Sakuraba, John J. Hopwood

    Publicat 2018
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  3. 3
    Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases

    Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and repor... per David Cassiman, Seymour Packman, Bruno Bembi, Hadhami Ben Turkia, Moeenaldeen Al‐Sayed, Manuel Schiff, Jackie Imrie, Paulina Mabe, Tsutomu Takahashi, Eugen Mengel, Roberto Giugliani, Gerald F. Cox

    Publicat 2016
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  4. 4
    Corrigendum to “Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases” [Mol. Genet. Metab. 118 (2016) 206–213]

    Corrigendum to “Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature... per David Cassiman, Seymour Packman, Bruno Bembi, Hadhami Ben Turkia, Moeenaldeen Al‐Sayed, Manuel Schiff, Jackie Imrie, Paulina Mabe, Tsutomu Takahashi, Eugen Mengel, Roberto Giugliani, Gerald F. Cox

    Publicat 2017
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  5. 5
    The first European consensus on principles of management for achondroplasia

    The first European consensus on principles of management for achondroplasia per Valérie Cormier‐Daire, Moeenaldeen AlSayed, Tawfeg Ben‐Omran, Sérgio B. Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillén‐Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike

    Publicat 2021
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  6. 6
    Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study

    Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study per Christian J. Hendriksz, Rossella Parini, Moeenaldeen AlSayed, Julian Raiman, Roberto Giugliani, John J. Mitchell, Barbara K. Burton, Norberto Guelbert, Fiona Stewart, Derralynn Hughes, Robert Matousek, Sara M. Hawley, Celeste Decker, Paul Harmatz

    Publicat 2017
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  7. 7
    Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial

    Multi-domain impact of elosulfase alfa in Morquio A syndrome in the pivotal phase III trial per Christian J. Hendriksz, Roberto Giugliani, Paul Harmatz, Eugen Mengel, Nathalie Guffon, Vassili Valayannopoulos, Rossella Parini, Derralynn Hughes, Gregory M. Pastores, Heather Lau, Moeenaldeen AlSayed, Julian Raiman, Kehu Yang, Matthew E. Mealiffe, Christine Haller

    Publicat 2014
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  8. 8
    Impact of long‐term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome

    Impact of long‐term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome per Christian J. Hendriksz, Kenneth I. Berger, Rossella Parini, Moeenaldeen AlSayed, Julian Raiman, Roberto Giugliani, John J. Mitchell, Barbara K. Burton, Norberto Guelbert, Fiona Stewart, Derralynn Hughes, Robert Matousek, Elaina Jurecki, Celeste Decker, Paul Harmatz

    Publicat 2016
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  9. 9
    Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

    Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay per Moeenaldeen AlSayed, Hamad Alzaidan, Albandary AlBakheet, Hana Hakami, Rosan Kenana, Yusra Alyafee, Mazhor Aldosary, Alya Qari, Tarfa Al‐Sheddi, Muhammed Al-Muheiza, Wafa Al-Qubbaj, Yamina Lakmache, Hindi Al‐Hindi, Muhammad Ghaziuddin, Dilek Çolak, Namik Kaya

    Publicat 2013
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  10. 10
    European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

    European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis per Melita Irving, Moeenaldeen AlSayed, Paul Arundel, Geneviève Baujat, Tawfeg Ben‐Omran, Silvio Boero, Valérie Cormier‐Daire, Svein O. Fredwall, Encarna Guillén‐Navarro, Heike Hoyer‐Kuhn, Philip Kunkel, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa

    Publicat 2023
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  11. 11
    Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of <i>GALNS</i> gene variants and reporting of 68 novel variants

    Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of <i>GALNS</i> gene variants and reporting of 68 novel variants per Alessandra Zanetti, Francesca D’Avanzo, Moeenaldeen AlSayed, Ana Carolina Brusius‐Facchin, Yin‐Hsiu Chien, Roberto Giugliani, Emanuela Izzo, David C. Kasper, Hsiang‐Yu Lin, Shuan‐Pei Lin, Laura Pollard, Akashdeep Singh, Rodolfo Tonin, Tim Wood, Amelia Morrone, Rosella Tomanin

    Publicat 2021
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  12. 12
    Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

    Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome per Christian J. Hendriksz, Rossella Parini, Moeenaldeen AlSayed, Julian Raiman, Roberto Giugliani, Martha Luz Solano Villarreal, John J. Mitchell, Barbara K. Burton, Norberto Guelbert, Fiona Stewart, Derralynn Hughes, Kenneth I. Berger, Peter Slasor, Robert Matousek, Elaina Jurecki, Adam J. Shaywitz, Paul Harmatz

    Publicat 2016
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  13. 13
    Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

    Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis per Michael Fietz, Moeenaldeen AlSayed, Derek Burke, Jessica Cohen‐Pfeffer, Jonathan D. Cooper, Lenka Dvořáková, Roberto Giugliani, Emanuela Izzo, Helena Jahnová, Zoltán Lukács, Sara Mole, Inés Noher de Halac, David A. Pearce, Helena Poupětová, Angela Schulz, Nicola Specchio, Winnie Xin, Nicole L. Miller

    Publicat 2016
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  14. 14
    Corrigendum to “Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations” [Mol. Genet. Metab. 112 (2014) 160–170]

    Corrigendum to “Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations” [Mol. Genet. Metab. 112 (2014) 160–170] per Amelia Morrone, Karen Tylee, Moeenaldeen AlSayed, Ana Carolina Brusius‐Facchin, Anna Caciotti, Heather J. Church, María Josep Coll, Kathryn Davidson, Michael Fietz, Laura Gort, Madhuri Hegde, Francyne Kubaski, Lúcia Lacerda, Francisco Laranjeira, Sandra Leistner‐Segal, Sean D. Mooney, Sonia Pajares, Laura Pollard, Isaura Ribeiro, R.Y. Wang, Nicole L. Miller

    Publicat 2014
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  15. 15
    Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

    Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations per Amelia Morrone, Karen Tylee, Moeenaldeen AlSayed, Ana Carolina Brusius-Facchin, Anna Caciotti, Heather J. Church, M. José Coll, Kathryn Davidson, Michael Fietz, Laura Gort, Madhuri Hegde, Francyne Kubaski, Lúcia Lacerda, Francisco Laranjeira, Sandra Leistner‐Segal, Sean D. Mooney, Sonia Pajares, Laura Pollard, Isaura Ribeiro, R.Y. Wang, Nicole L. Miller

    Publicat 2014
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  16. 16
    Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

    Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases per Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed Al‐Owain, Hamad Alzaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K. Chung, Roberto Colombo, Niklas Darín, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grünewald, Tobias B. Haack, Peter M. van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Réka Kovács-Nagy, Zita Krūmiņa, Elena Martín‐Hernández, Johannes A. Mayr, Patricia McClean, Linda De Meırleır, K Naess, Lock Hock Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa G. Riley, Benjamin Röeben, Frank Rutsch, René Santer, Manuel Schiff, Martine Seders, Sílvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W. Taylor, Joanna Trubicka, Konstantinos Tsiakas, Özlem Ünal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Éva Morava, Ewa Pronicka, Ron A. Wevers, Arjan Pm de Brouwer, Saskia B. Wortmann

    Publicat 2017
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  17. 17
    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy per Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker‐Ravi, Hankun Li, Sarah B. Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam Marzouqa, Meral Gunay‐Aygun, Michael Muriello, Hélène Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A.A.P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah Tamim, Mais Hashem, Moeenaldeen AlSayed, Maha Abdulrahim, Mohammed Al‐Owain, Ali Awaji, Adel Mahmoud, Eissa Faqeih, Ali Al Asmari, Sulwan Algain, Lamyaa Jad, Hesham Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Rieß, Ingeborg Kraegeloh‐Mann, Peter Bauer, Süleyman Gülsüner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura Schultz‐Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor‐Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James Stewart, Adam Claridge‐Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph Barycki, Melanie A. Simpson, Saumya Shekhar Jamuar, Lüdger Schöls, Bruno Reversade

    Publicat 2020
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  18. 18
    The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

    The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes per Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, Zuhair N. Al‐Hassnan, Maha Alotaibi, Husam Kayyali, Mohammed Al‐Owain, Ayaz Shah, Zuhair Rahbeeni, Mohammad A. Al–Muhaizea, Hamad Alzaidan, Edward Cupler, Saeed Bohlega, Eissa Faqeih, Maha Faden, Banan Al‐Younes, Dyala Jaroudi, Ewa Goljan, Hadeel Elbardisy, Asma Akilan, Renad Albar, Hesham Aldhalaan, Shamshad Gulab, Aziza Chedrawi, Bandar K. Al Saud, Wesam Kurdi, Nawal Makhseed, Tahani Alqasim, Heba Y. El Khashab, Hamoud Al‐Mousa, Amal Alhashem, Imaduddin Kanaan, Talal Algoufi, Khalid A. Alsaleem, Talal A. Basha, Fathiya Al-Murshedi, Sameena Khan, Adila Al‐Kindy, Maha Alnemer, Sami Al-Hajjar, Suad Alyamani, Hasan Al‐Dhekri, Ali Almehaidib, Rand Arnaout, Omar Dabbagh, Mohammad Shagrani, Dieter Broering, Maha Tulbah, Amal AlQassmi, Maisoon Almugbel, Mohammed Alquaiz, Abdulaziz Alsaman, Khalid Al‐Thihli, Raashda A. Sulaiman, Wajeeh Aldekhail, Abeer Al‐Saegh, Fahad A. Bashiri, Alya Qari, Suzan Alhomadi, Hisham Alkuraya, Mohammed Al‐Sebayel, Muddathir H. Hamad, László Szönyi, Faisal Abaalkhail, Sulaiman M. Al‐Mayouf, Hamad Al‐Mojalli, Khalid Alqadi, Hussien Elsiesy, Taghreed Shuaib, Mohammed Zain Seidahmed, Ibraheem Abosoudah, Hana Akleh, Abdulaziz Al‐Ghonaium, Turki M. Al-Kharfy, Fuad Al Mutairi, Wafa Eyaid, Abdullah Alshanbary, Farrukh Sheikh, Fahad Alsohaibani, Abdullah Alsonbul, Saeed Al Tala, Soher Balkhy, Randa Bassiouni, Ahmed Alenizi, Maged H. Hussein, Saeed Hassan, Mohamed M.I. Khalil, Brahim Tabarki, Saad AlShahwan, Oshi Amira, Yasser Sabr, Saad Alsaadoun, Mustafa A. Salih, Sarar Mohamed, Habiba Sultana, Abdullah Tamim, Moayad El-Haj, Saif Alshahrani, Dalal Bubshait, Majid Alfadhel

    Publicat 2017
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