GGPS1-associated muscular dystrophy with and without hearing

被引:0
|
作者
Rocca, Clarissa [1 ]
Kaiyrzhanov, Rauan [1 ]
Zaki, Maha [2 ]
Hosny, Heba [3 ]
Beetz, Christian [4 ]
Movahedinia, Mojtaba [5 ]
Vuillaumier-Barrot, Sandrine [6 ]
Isapof, Arnaud [7 ]
Mehrjardi, Mohammad Yahya Vahidi [8 ]
Ghasemi, Nasrin [8 ]
Whalen, Sandra [9 ]
Houlden, Henry [1 ]
Maroofian, Reza [1 ]
机构
[1] UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England
[2] Natl Res Ctr, Clin Genet Dept, Human Genet & Genome Res, Cairo, Egypt
[3] Natl Inst Neuromotor Syst, Dept Genet, Cairo, Egypt
[4] CENTOGENE GmbH, Rostock, Germany
[5] Univ Tehran Med Sci, Pediat Neurol Div, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran
[6] Hop Xavier Bichat, AP HP, Dept Biochem, Paris, France
[7] Sorbonne Univ, Hop Armand Trousseau, APHP, Serv Neurol Pediat, Paris, France
[8] Yazd Shahid Sadoughi Univ Med Sci Campus, Yazd, Iran
[9] Sorbonne Univ, Ctr Reference Anomalies Dev & Syndromes Malformat, Hop Armand Trousseau, APHP,UF Genet Clin,ERN ITHACA, Paris, France
基金
英国惠康基金;
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P11.028.C
引用
收藏
页码:510 / 510
页数:1
相关论文
共 50 条
  • [1] GGPS1-associated muscular dystrophy with and without hearing loss
    Kaiyrzhanoy, Rauan
    Perry, Luke
    Rocca, Clarissa
    Zaki, Maha S.
    Hosny, Heba
    Martins Moreno, Cristiane Araujo
    Phadke, Rahul
    Zaharieva, Irina
    Gontijo, Clara Camelo
    Beetz, Christian
    Pini, Veronica
    Movahedinia, Mojtaba
    Zanoteli, Edmar
    DiTroia, Stephanie
    Vuillaumier-Barrot, Sandrine
    Isapof, Arnaud
    Vahidi Mehrjardi, Mohammad Yahya
    Ghasemi, Nasrin
    Sarkozy, Anna
    Muntoni, Francesco
    Whalen, Sandra
    Vona, Barbara
    Houlden, Henry
    Maroofian, Reza
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2022, 9 (09): : 1465 - 1474
  • [2] GGPS1Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
    Foley, A. Reghan
    Zou, Yaqun
    Dunford, James E.
    Rooney, Jachinta
    Chandra, Goutam
    Xiong, Hui
    Straub, Volker
    Voit, Thomas
    Romero, Norma
    Donkervoort, Sandra
    Hu, Ying
    Markello, Thomas
    Horn, Adam
    Qebibo, Leila
    Dastgir, Jahannaz
    Meilleur, Katherine G.
    Finkel, Richard S.
    Fan, Yanbin
    Mamchaoui, Kamel
    Duguez, Stephanie
    Nelson, Isabelle
    Laporte, Jocelyn
    Santi, Mariarita
    Malfatti, Edoardo
    Maisonobe, Thierry
    Touraine, Philippe
    Hirano, Michio
    Hughes, Imelda
    Bushby, Kate
    Oppermann, Udo
    Bohm, Johann
    Jaiswal, Jyoti K.
    Stojkovic, Tanya
    Bonnemann, Carsten G.
    ANNALS OF NEUROLOGY, 2020, 88 (02) : 332 - 347
  • [3] Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy
    Altassan, Ruqaiah
    Alqudairy, Hanan
    Aljebreen, Sarah
    Almuhaizea, Mohammed
    Al-Hindi, Hindi
    Pena-Guerra, Karla A.
    Ghebeh, Hazem
    Almzroua, Amer
    Albakheet, Albandary
    Aldosary, Mazhor
    Colak, Dilek
    Arold, Stefan T.
    Kaya, Namik
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (04)
  • [4] HEARING ACUITY IN PATIENTS WITH MUSCULAR DYSTROPHY
    ALLEN, NR
    FOLIA PHONIATRICA, 1974, 26 (03): : 169 - 170
  • [5] HEARING ACUITY IN PATIENTS WITH MUSCULAR-DYSTROPHY
    ALLEN, NR
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 1973, 15 (04): : 500 - 505
  • [6] Predicting hearing loss in facioscapulohumeral muscular dystrophy
    Darras, Basil T.
    Tawil, Rabi
    NEUROLOGY, 2013, 81 (16) : 1370 - 1371
  • [7] HEARING-LOSS IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY
    BROUWER, OF
    PADBERG, GW
    RUYS, CJM
    BRAND, R
    DELAAT, JAPM
    GROTE, JJ
    NEUROLOGY, 1991, 41 (12) : 1878 - 1881
  • [8] Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function
    Trevisan, Carlo P.
    Pastorello, Ebe
    Ermani, Mario
    Angelini, Corrado
    Tomelleri, Giuliano
    Tonin, Paola
    Mongini, Tiziana
    Palmucci, Laura
    Galluzzi, Giuliana
    Tupler, Rossella G.
    Marioni, Gino
    Rimini, Alessandro
    AUDIOLOGY AND NEURO-OTOLOGY, 2008, 13 (01) : 1 - 6
  • [9] Progressive Hearing Loss in Facioscapulohumeral Muscular Dystrophy Is Associated with Short EcoRI-BlnI Fragments
    Lutz, Katie
    Stephan, Carrie
    Mathews, Katherine
    NEUROLOGY, 2013, 80
  • [10] Progressive Hearing Loss in Facioscapulohumeral Muscular Dystrophy Is Associated with Short EcoRI-BlnI Fragments
    Lutz, Katie
    Stephan, Carrie
    Mathews, Katherine
    NEUROLOGY, 2013, 80