Works matching AU Alavi, Afagh


Results: 48
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    MFSD8 gene mutations; evidence for phenotypic heterogeneity.

    Published in:
    2019
    By:
    • Zare-Abdollahi, Davood;
    • Bushehri, Ata;
    • Alavi, Afagh;
    • Dehghani, Alireza;
    • Mousavi-Mirkala, Mohammadreza;
    • Effati, Jalil;
    • Miratashi, Seyed Ali Mohammad;
    • Dehani, Mohammad;
    • Jamali, Payman;
    • Khorram Khorshid, Hamid Reza
    Publication type:
    Report
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    Clinical spectrum in multiple families with primary COQ<sub>10</sub> deficiency.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 440, doi. 10.1002/ajmg.a.61983
    By:
    • Hashemi, Seyyed S.;
    • Zare‐Abdollahi, Davood;
    • Bakhshandeh, Mohammad K.;
    • Vafaee, Amirreza;
    • Abolhasani, Sona;
    • Inanloo Rahatloo, Kolsoum;
    • DanaeeFard, Fardad;
    • Farboodi, Niloofar;
    • Rohani, Mohammad;
    • Alavi, Afagh
    Publication type:
    Article
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    Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

    Published in:
    2022
    By:
    • Alonso-Pérez, Jorge;
    • González-Quereda, Lidia;
    • Bruno, Claudio;
    • Panicucci, Chiara;
    • Alavi, Afagh;
    • Nafissi, Shahriar;
    • Nilipour, Yalda;
    • Zanoteli, Edmar;
    • Isihi, Lucas Michielon de Augusto;
    • Melegh, Béla;
    • Hadzsiev, Kinga;
    • Muelas, Nuria;
    • Vílchez, Juan J;
    • Dourado, Mario Emilio;
    • Kadem, Naz;
    • Kutluk, Gultekin;
    • Umair, Muhammad;
    • Younus, Muhammad;
    • Pegorano, Elena;
    • Bello, Luca
    Publication type:
    journal article
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    Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1240
    By:
    • Khani, Marzieh;
    • Shamshiri, Hosein;
    • Fatehi, Farzad;
    • Rohani, Mohammad;
    • Haghi Ashtiani, Bahram;
    • Akhoundi, Fahimeh Haji;
    • Alavi, Afagh;
    • Moazzeni, Hamidreza;
    • Taheri, Hanieh;
    • Ghani, Mina Tolou;
    • Javanparast, Leila;
    • Hashemi, Seyyed Saleh;
    • Haji‐Seyed‐Javadi, Ramona;
    • Heidari, Matineh;
    • Nafissi, Shahriar;
    • Elahi, Elahe
    Publication type:
    Article
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    Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems.

    Published in:
    Molecular Syndromology, 2020, v. 11, n. 2, p. 62, doi. 10.1159/000506530
    By:
    • Farajzadeh Valilou, Saeed;
    • alavi, afagh;
    • Pashaei, Mahdiyeh;
    • Ghasemi Firouzabadi, Saghar;
    • Shafeghati, Yousef;
    • Nozari, ahoura;
    • Hadipour, Fatemeh;
    • Hadipour, Zahra;
    • Maghsoodlou Estrabadi, Bijan;
    • Gholamreza Noorazar, Seyed;
    • Banihashemi, Susan;
    • Karimian, Javad;
    • Fattahi, Mahshid;
    • Behjati, Farkhondeh
    Publication type:
    Article
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    Familial Hypermanganesemia in Iran.

    Published in:
    Movement Disorders Clinical Practice, 2023, v. 10, n. 5, p. 850, doi. 10.1002/mdc3.13723
    By:
    • Tabatabaee, Seyedeh Narges;
    • Effat Nejad, Sajjad;
    • Nikkhah, Ali;
    • Hashemi, Narges;
    • Alavi, Afagh;
    • Lang, Anthony E.;
    • Rohani, Mohammad;
    • Emamikhah, Maziar
    Publication type:
    Article
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    Action Myoclonus and Seizure in Kufor‐Rakeb Syndrome.

    Published in:
    Movement Disorders Clinical Practice, 2018, v. 5, n. 2, p. 195, doi. 10.1002/mdc3.12570
    By:
    • Sina, Farzad;
    • Rohani, Mohammad;
    • Lang, Anthony E.;
    • Fasano, Alfonso;
    • Elahi, Elahe;
    • Hardy, John;
    • Bras, Jose;
    • Alavi, Afagh
    Publication type:
    Article
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    Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations.

    Published in:
    Acta Neurologica Belgica, 2024, v. 124, n. 4, p. 1363, doi. 10.1007/s13760-024-02598-7
    By:
    • Sabeghi, Donya;
    • InanlooRahatloo, Kolsoum;
    • Mirzadeh, Hanieh S.;
    • Khani, Marzieh;
    • Shamshiri, Hosein;
    • Taghavi, Tarannomsadat;
    • Alavi, Afagh;
    • Boostani, Reza;
    • Tonekaboni, Seyed Hassan;
    • Akhondian, Javad;
    • Ebrahimi, Masoomah;
    • Salehi, Najmeh;
    • Nafissi, Shahriar;
    • Elahi, Elahe
    Publication type:
    Article
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    White matter abnormalities in 15 subjects with SPG76.

    Published in:
    Journal of Neurology, 2023, v. 270, n. 12, p. 5784, doi. 10.1007/s00415-023-11918-5
    By:
    • Alkhalifa, Abdulrahman;
    • Chen, Shihan;
    • Hasiloglu, Zehra Isik;
    • Filosto, Massimiliano;
    • Cali, Elisa;
    • Houlden, Henry;
    • Sgobbi de Souza, Paulo;
    • Alavi, Afagh;
    • Goizet, Cyril;
    • Stevanin, Giovanni;
    • Taithe, Frederic;
    • Nicita, Francesco;
    • Vasco, Gessica;
    • Tozza, Stefano;
    • Cocozza, Sirio;
    • Carboni, Nicola;
    • Figus, Andrea;
    • Wu, Jianjun;
    • Basak, A. Nazli;
    • Brais, Bernard
    Publication type:
    Article
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    The second family affected with a PRDM8-related disease.

    Published in:
    Neurological Sciences, 2022, v. 43, n. 6, p. 3847, doi. 10.1007/s10072-021-05815-w
    By:
    • Davarzani, Atefeh;
    • Shahrokhi, Amin;
    • Hashemi, Seyyed Saleh;
    • Ghasemi, Aida;
    • Habibi Kavashkohei, Mohammad Reza;
    • Farboodi, Niloofar;
    • Lang, Anthony E.;
    • Ghiasi, Maryam;
    • Rohani, Mohammad;
    • Alavi, Afagh
    Publication type:
    Article
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