PHENOTYPIC AND GENOTYPIC FEATURES IN PEDIATRIC AND ADULT MITOCHONDRIAL DISORDERS

被引:0
|
作者
Finsterer, Josef [1 ]
Zarrouk-Mahjoub, Sinda [2 ,3 ]
机构
[1] Krankenanstalt Rudolfstiftung Wien, Vienna, Austria
[2] Univ Tunis El Manar, Tunis, Tunisia
[3] Pasteur Inst Tunis, Genom Platform, Tunis, Tunisia
关键词
D O I
10.1002/mus.25651
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:E48 / E48
页数:1
相关论文
共 50 条
  • [31] Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders
    Abdelfattah, Fatima
    Kariminejad, Ariana
    Kahlert, AnneKarin
    Morrison, Patrick J.
    Gumus, Evren
    Mathews, Katherine D.
    Darbro, Benjamin W.
    Amor, David J.
    Walsh, Maie
    Sznajer, Yves
    Weiss, Luisa
    Weidensee, Sabine
    Chitayat, David
    Shannon, Patrick
    Bermejo-Sanchez, Eva
    Riano-Galan, Isolina
    Hayes, Ian
    Poke, Gemma
    Rooryck, Caroline
    Pennamen, Perrine
    Khung-Savatovsky, Suonavy
    Toutain, Annick
    Vuillaume, Marie-Laure
    Ghaderi-Sohi, Siavash
    Kariminejad, Mohamad H.
    Weinert, Soenke
    Sticht, Heinrich
    Zenker, Martin
    Schanze, Denny
    HUMAN MUTATION, 2020, 41 (09) : 1615 - 1628
  • [32] Specific phenotypic and genotypic features of an ultradwarf hexaploid triticale form
    Kurkiev, K. U.
    RUSSIAN JOURNAL OF GENETICS, 2008, 44 (03) : 334 - 338
  • [33] Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A
    Inaba, Hiroshi
    Shinozawa, Keiko
    Seita, Ikuo
    Otaki, Manabu
    Suzuki, Takashi
    Hagiwara, Takeshi
    Amano, Kagehiro
    Fukutake, Katsuyuki
    INTERNATIONAL JOURNAL OF HEMATOLOGY, 2013, 97 (06) : 758 - 764
  • [34] Renal Tumors with Oncocytic and Papillary Features: A Phenotypic and Genotypic Study
    Franceschini, Tania
    Giunchi, Francesca
    Mollica, Veronica
    Altimari, Annalisa
    Capizzi, Elisa
    Banfi, Mattia
    Schiavina, Riccardo
    Fiorentino, Michelangelo
    Massari, Francesco
    DIAGNOSTICS, 2021, 11 (02)
  • [35] PHENOTYPIC AND GENOTYPIC FEATURES OF CADASIL PATIENTS WITH ACUTE ISCHEMIC STROKE
    Park, J. Y.
    Kim, B. J.
    INTERNATIONAL JOURNAL OF STROKE, 2024, 19 (02) : 230 - 230
  • [36] Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A
    Hiroshi Inaba
    Keiko Shinozawa
    Ikuo Seita
    Manabu Otaki
    Takashi Suzuki
    Takeshi Hagiwara
    Kagehiro Amano
    Katsuyuki Fukutake
    International Journal of Hematology, 2013, 97 : 758 - 764
  • [37] Specific phenotypic and genotypic features of an ultradwarf hexaploid triticale form
    K. U. Kurkiev
    Russian Journal of Genetics, 2008, 44 : 334 - 338
  • [38] Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia
    Harun Bayrak
    Yılmaz Yıldız
    Asburçe Olgaç
    Çiğdem Seher Kasapkara
    Aynur Küçükcongar
    Ayşegül Zenciroğlu
    Deniz Yüksel
    Serdar Ceylaner
    Mustafa Kılıç
    Metabolic Brain Disease, 2021, 36 : 1213 - 1222
  • [39] Allergic and Nonallergic Asthma Have Distinct Phenotypic and Genotypic Features
    Takejima, Priscila
    Agondi, Rosana Camara
    Rodrigues, Helcio
    Aun, Marcelo Vivolo
    Kalil, Jorge
    Giavina-Bianchi, Pedro
    INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY, 2017, 172 (03) : 150 - 160
  • [40] The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy
    Lin, Feng
    Yang, Kang
    Lin, Min-ting
    Zheng, Fu-ze
    Chen, Long
    Ding, Yuan-liang
    Ye, Zhi-xian
    Lin, Xin
    Wang, Ning
    Wang, Zhi-qiang
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2023, 10 (03): : 426 - 439