Søgeresultater - Reza Maroofian

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  1. 1
    Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss

    Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss af Clara Mendia, Thibault Peineau, Mina Zamani, Chloé Felgerolle, Nawal Yahiaoui, Nele Christophersen, Samantha Papal, Audrey Maudoux, Reza Maroofian, Pranav Patni, Sylvie Nouaille, Michael R. Bowl, Sedigheh Delmaghani, Hamid Galehdari, Barbara Vona, Didier Dulon, Sandrine Vitry, A. Amraoui

    Udgivet 2024
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  2. 2
    Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn

    Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn af Stéphanie Efthymiou, Luiz Eduardo Novis, Georgios Koutsis, Chrysoula Koniari, Reza Maroofian, Valentina Turchetti, Georgios Velonakis, Luiz Felipe Rocha Vasconcellos, Salmo Raskin, Varunvenkat M. Srinivasan, Alistair T. Pagnamenta, Yaramanchanahalli B. Arun, Uddhava V. Kinhal, Vykuntaraju K. Gowda, Hélio Afonso Ghizoni Teive, Henry Houlden

    Udgivet 2023
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  3. 3
    Early-onset phenotype of bi-allelic <i>GRN</i> mutations

    Early-onset phenotype of bi-allelic <i>GRN</i> mutations af Caroline Neuray, Tipu Sultan, Javeira Raza Alvi, Marcondes C. França, Birgit Assmann, Matias Wagner, Laura Canafoglia, Silvana Franceschetti, Giacomina Rossi, Isabel Santana, Carmo Macário, Maria Rosário Almeida, Mahesh Kamate, Sumit Parikh, Houda Zghal Elloumi, David Murphy, Stéphanie Efthymiou, Reza Maroofian, Henry Houlden

    Udgivet 2020
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  4. 4
    Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish

    Biallelic variants in <i>GTF3C3</i> encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish af Mohamed S. Abdel‐Hamid, Adeline Paimboeuf, Maha S. Zaki, Fernanda Barbosa Figueiredo, Sherif F. Abdel‐Ghafar, Sabrina Maher, Rún Friðriksdóttir, Patrick Sulem, Hákon Björn Högnason, Sigrún Hallgrímsdóttir, Catarina Falleiros Nogueira Rojas, Fernando Kok, Mohnish Suri, César Augusto Pinheiro Ferreira Alves, Henry Houlden, Reza Maroofian, Shunmoogum A. Patten

    Udgivet 2025
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  5. 5
    Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

    Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures af Emma L. Baple, Reza Maroofian, Barry A. Chioza, Maryam Izadi, Harold E. Cross, Saeed Al-Turki, Katy Barwick, Anna E. Skrzypiec, Robert Pawlak, Karin Wagner, Roselyn Coblentz, Tala Zainy, Michael A. Patton, Sahar Mansour, Phillip Rich, Britta Qualmann, Matt Hurles, Michael M. Kessels, Andrew H. Crosby

    Udgivet 2013
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  6. 6
    Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

    Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia af Nynke Oosterhof, Irene J. Chang, Ehsan Ghayoor Karimiani, Laura E. Kuil, Dana M. Jensen, Ray A. M. Daza, Erica P. Young, Lee Astle, Herma C. van der Linde, Giridhar M. Shivaram, Jeroen Demmers, Caitlin S. Latimer, C. Dirk Keene, Emily Loter, Reza Maroofian, Tjakko J. van Ham, Robert F. Hevner, James T. Bennett

    Udgivet 2019
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  7. 7
    Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

    Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures af Tiong Yang Tan, Jiří Sedmík, Mark P. Fitzgerald, Rivka Sukenik‐Halevy, Liam P. Keegan, Ingo Helbig, Lina Basel‐Salmon, Lior Cohen, Rachel Straussberg, Wendy K. Chung, Mayada Helal, Reza Maroofian, Henry Houlden, Jane Juusola, Simon Sadedin, Lynn Pais, Katherine B. Howell, Susan M. White, John Christodoulou, Mary A. O’Connell

    Udgivet 2020
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  8. 8
    Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

    Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 af Carola Hedberg‐Oldfors, Alexandra Abramsson, Daniel P. S. Osborn, Olof Danielsson, Afsoon Fazlinezhad, Yalda Nilipour, Laila Hübbert, Inger Nennesmo, Kittichate Visuttijai, Jaipreet Bharj, Evmorfia Petropoulou, Azza Shoreim, Barbara Vona, Najmeh Ahangari, Marcela Dávila López, Mohammad Doosti, Rakesh Kumar Banote, Reza Maroofian, Malin Edling, Mehdi Taherpour, Henrik Zetterberg, Ehsan Ghayoor Karimiani, Anders Oldfors, Yalda Jamshidi

    Udgivet 2019
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  9. 9
    <scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing loss

    <scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing loss af Rauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, Maha S. Zaki, Heba Hosny, Cristiane Araújo Martins Moreno, Rahul Phadke, Irina Zaharieva, Clara Camelo Gontijo, Christian Beetz, Veronica Pini, Mojtaba Movahedinia, Edmar Zanoteli, Stephanie DiTroia, Sandrine Vuillaumier‐Barrot, Arnaud Isapof, Mohammad Yahya Vahidi Mehrjardi, Nasrin Ghasemi, Anna Sárközy, Francesco Muntoni, Sandra Whalen, Barbara Vona, Henry Houlden, Reza Maroofian

    Udgivet 2022
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  10. 10
    Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

    Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy af Daniel P. S. Osborn, Heather L. Pond, Neda Mazaheri, Jeremy Dejardin, Christopher J. Munn, Khaloob Mushref, Edmund Cauley, Isabella Moroni, Maria Barbara Pasanisi, Elizabeth A. Sellars, Robert Hill, Jennifer N. Partlow, Rebecca Willaert, Jaipreet Bharj, Reza Azizi Malamiri, Hamid Galehdari, Gholamreza Shariati, Reza Maroofian, Marina Mora, Laura E. Swan, Thomas Voit, Francesco J. Conti, Yalda Jamshidi, M. Chiara Manzini

    Udgivet 2017
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  11. 11
    Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies

    Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies af Mert Karakaya, Markus Storbeck, Eike A. Strathmann, Andrea Delle Vedove, Irmgard Hölker, Janine Altmueller, Leyla Naghiyeva, Lea Schmitz-Steinkrüger, Aikaterini Vezyroglou, Susanne Motameny, Salem Alawbathani, Hölger Thiele, Ayşe Polat, Derya Okur, Reza Boostani, Ehsan Ghayoor Karimiani, Gilbert Wunderlich, Didem Ardıçlı, Haluk Topaloğlu, Janbernd Kirschner, Bertold Schrank, Reza Maroofian, Ólafur Þ. Magnússon, Uluç Yiş, Peter Nürnberg, Raoul Heller, Brunhilde Wirth

    Udgivet 2018
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  12. 12
    Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

    Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis af Gaurav V. Harlalka, Anna Lehman, Barry A. Chioza, Emma L. Baple, Reza Maroofian, Harold E. Cross, Ajith Sreekantan-Nair, David A. Priestman, Saeed Al-Turki, Meriel McEntagart, Christos Proukakis, Louise Royle, Radoslaw P. Kozak, Lailá Bastaki, Michael A. Patton, Karin Wagner, Roselyn Coblentz, Joy Price, Michelle M. Mezei, Kamilla Schlade‐Bartusiak, Frances M. Platt, Matthew E. Hurles, Andrew H. Crosby

    Udgivet 2013
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  13. 13
    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects af Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mıhçı, Christopher T. Gordon, Elisabeth Steichen‐Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte‐Dijkstra, Albertien M. van Eerde, Koen L.I. van Gassen, Corstiaan C. Breugem, Alexander P.A. Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Münnich, Dulce Papy‐Garcia, Muriel De La Dure‐Molla, Valérie Cormier‐Daire

    Udgivet 2018
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  14. 14
    Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

    Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging af Aaron R. Jeffries, Reza Maroofian, Claire Salter, Barry A. Chioza, Harold E. Cross, Michael A. Patton, Emma Dempster, I. Karen Temple, Deborah Mackay, Faisal I. Rezwan, Lise Aksglæde, Diana Baralle, Tabib Dabir, Matthew F. Hunter, Arveen Kamath, Ajith Kumar, Ruth Newbury‐Ecob, Angelo Selicorni, Amanda Springer, Lionel Van Maldergem, Vinod Varghese, Naomi Yachelevich, Katrina Tatton‐Brown, Jonathan Mill, Andrew H. Crosby, Emma L. Baple

    Udgivet 2019
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  15. 15
    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia af Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Fayçal Hentati, Maryam M. Hockley, Benedikt V. Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller‐Felber, Ege Ozkan, Sergio Padilla-López, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Züchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle

    Udgivet 2019
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  16. 16
    Biallelic Loss‐of‐Function <scp><i>NDUFA12</i></scp> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

    Biallelic Loss‐of‐Function <scp><i>NDUFA12</i></scp> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy af Francesca Magrinelli, Elisa Calì, Vinícius Lopes Braga, Uluç Yiş, Hoda Tomoum, Hanan E. Shamseldin, Julian Raiman, Christoph Kernstock, Flávio Moura Rezende Filho, Orlando Graziani Póvoas Barsottini, Robert W. Taylor, Elsebet Østergaard, Abdullah Tamim, Karin Schäferhoff, Juliana Maria Ferraz Sallum, Maha S. Zaki, Fernando Kok, Kailash P. Bhatia, Bernd Wissinger, Kate Sergeant, Tobias B. Haack, Rita Horváth, Semra Hız, Fowzan S. Alkuraya, Henry Houlden, José Luiz Pedroso, Reza Maroofian

    Udgivet 2021
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  17. 17
    Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration

    Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration af Valentina Muto, Elisabetta Flex, Zachary A Kupchinsky, Guido Primiano, Hamid Galehdari, Mohammadreza Dehghani, Serena Cecchetti, Giovanna Carpentieri, Teresa Rizza, Neda Mazaheri, Alireza Sedaghat, Mohammad Yahya Vahidi Mehrjardi, Alice Traversa, Michela Di Nottia, Maria Kousi, Yalda Jamshidi, Andrea Ciolfi, Viviana Caputo, Reza Azizi Malamiri, Francesca Pantaleoni, Simone Martinelli, Aaron R. Jeffries, Jawaher Zeighami, Amir Sherafat, Daniela Di Giuda, Gholamreza Shariati, Rosalba Carrozzo, Nicholas Katsanis, Reza Maroofian, Serenella Servidei, Marco Tartaglia

    Udgivet 2018
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  18. 18
    NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

    NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease af Paige Martin, Yu Kigoshi-Tansho, Roger B. Sher, Gianina Ravenscroft, Jennifer E. Stauffer, Rajesh Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehli̇van, Tamar Harel, Martin Zenker, Denise Howting, Denny Schanze, Eissa Faqeih, Naif A. M. Almontashiri, Reza Maroofian, Henry Houlden, Neda Mazaheri, Hamid Galehdari, Ganka Douglas, Jennifer E. Posey, Monique M. Ryan, James R. Lupski, Nigel G. Laing, Claudio A.P. Joazeiro, Gregory A. Cox

    Udgivet 2020
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  19. 19
    KDM5A mutations identified in autism spectrum disorder using forward genetics

    KDM5A mutations identified in autism spectrum disorder using forward genetics af Lauretta El Hayek, İslam Oğuz Tuncay, Nadine Nijem, Jamie L. Russell, Sara Ludwig, Kiran Kaur, Xiaohong Li, Priscilla Anderton, Miao Tang, Amanda Gerard, Anja Heinze, Pia Zacher, Hessa S. Alsaif, Abolfazl Rad, Kazem Hassanpour, Mohammad Reza Abbaszadegan, Camerun Washington, Barbara R. DuPont, Raymond J. Louie, Madeline Couse, Maha Faden, R. Curtis Rogers, Rami Abou Jamra, Ellen Roy Elias, Reza Maroofian, Henry Houlden, Anna Lehman, Bruce Beutler, Maria H. Chahrour

    Udgivet 2020
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  20. 20
    Novel loss-of-function variants expand <i>ABCC9</i>-related intellectual disability and myopathy syndrome

    Novel loss-of-function variants expand <i>ABCC9</i>-related intellectual disability and myopathy syndrome af Stéphanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L. Komdeur, Robin A Liang, Mohamed S. Abdel‐Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S. Alkuraya, Maha S. Zaki, Mariasavina Severino, Kingsley C. Duru, Robert C. Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M. van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G. Nichols, Marie Falkenberg Smeland, Conor McClenaghan

    Udgivet 2024
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