Search Results - Homa Tajsharghi

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  1. 1
    Myosinopathies: pathology and mechanisms

    Myosinopathies: pathology and mechanisms by Homa Tajsharghi, Anders Oldfors

    Published 2012
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  2. 2
    Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis

    Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis by Ali‐Reza Moslemi, Christopher Lindberg, Johanna Nilsson, Homa Tajsharghi, Bert Andersson, Anders Oldfors

    Published 2010
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  3. 3
    Autosomal dominant myopathy: Missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa gene

    Autosomal dominant myopathy: Missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa gene by Tommy Martinsson, Anders Oldfors, Niklas Darín, Kerstin Berg, Homa Tajsharghi, Mårten Kyllerman, Jan Wahlström

    Published 2000
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  4. 4
    Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations

    Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations by Homa Tajsharghi, David Hilton‐Jones, Olayinka Raheem, Anna Maija Saukkonen, Anders Oldfors, Bjarne Udd

    Published 2010
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  5. 5
    Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

    Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin by Monica Ohlsson, Carola Hedberg, Björn Brådvik, Christopher Lindberg, Homa Tajsharghi, Olof Danielsson, Atle Melberg, Bjarne Udd, Tommy Martinsson, Anders Oldfors

    Published 2012
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  6. 6
    TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor

    TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor by Ariana Kariminejad, Martin Dahl-Halvarsson, Gianina Ravenscroft, Fariba Afroozan, Elham Keshavarz, Hayley Goullée, Mark R. Davis, Mehrshid Faraji Zonooz, Hossein Najmabadi, Nigel G. Laing, Homa Tajsharghi

    Published 2017
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  7. 7
    New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

    New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations by Montse Olivé, Saba Abdul-Hussein, Anders Oldfors, José González‐Costello, Peter F. M. van der Ven, Dieter O. Fürst, Laura González, Dolores Moreno, Benjamı́n Torrejón-Escribano, Josefina Alió, Adolf Pou, Isidró Ferrer, Homa Tajsharghi

    Published 2015
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  8. 8
    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy by Nicolas Chatron, Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tüysüz, Sandra Roselli, Maryam Najafi, Dilek Uludağ Alkaya, Farah Ashrafzadeh, Amira Nabil, Tarek Omar, Reza Maroofian, Ehsan Ghayoor Karimiani, Haytham Hussien, Fernando Kok, Luiza Ramos, Nilay Güneş, Kaya Bilgüvar, Audrey Labalme, Eudéline Alix, Damien Sanlaville, Julitta de Bellescize, Anne‐Lise Poulat, Ingo Helbig, Sarah von Spiczak, Stéphanie Baulac, Nina Barišić, Rudi Balling, Hande Çağlayan, Dana Craiu, Renzo Guerrini, Karl Martin Klein, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Katalin Štěrbová, Yvonne G. Weber, Ali‐Reza Moslemi, Holger Lerche, Patrick May, Gaëtan Lesca, Sarah Weckhuysen, Homa Tajsharghi

    Published 2020
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  9. 9
    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, a... by Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, Tadahiro Mitani, Haowei Du, Christopher M. Grochowski, Sérgio B. Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko Itō, Clarissa Rocca, Jill V. Hunter, V. Reid Sutton, Lisa Emrick, Kym M. Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal Waill Saadi, Maha S. Zaki, Arjan Bouman, Tahsin Stefan Barakat, David Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh‐Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Al‐Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C. Robson, Zeynep Coban‐Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Michael C. Kruer, Kristin D. Kernohan, Jonas Alex Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H. Elsea, Davut Pehli̇van, Dana Marafi, James R. Lupski

    Published 2022
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