Works by Rocca, Clarissa

Results: 15
    1

    GGPS1-associated muscular dystrophy with and without hearing loss.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 9, p. 1465, doi. 10.1002/acn3.51633
    By:
    • Kaiyrzhanov, Rauan;
    • Perry, Luke;
    • Rocca, Clarissa;
    • Zaki, Maha S.;
    • Hosny, Heba;
    • Martins Moreno, Cristiane Araujo;
    • Phadke, Rahul;
    • Zaharieva, Irina;
    • Camelo Gontijo, Clara;
    • Beetz, Christian;
    • Pini, Veronica;
    • Movahedinia, Mojtaba;
    • Zanoteli, Edmar;
    • DiTroia, Stephanie;
    • Vuillaumier-Barrot, Sandrine;
    • Isapof, Arnaud;
    • Mehrjardi, Mohammad Yahya Vahidi;
    • Ghasemi, Nasrin;
    • Sarkozy, Anna;
    • Muntoni, Francesco
    Publication type:
    Article
    2

    Biallelic loss of EMC10 leads to mild to severe intellectual disability.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 1080, doi. 10.1002/acn3.51602
    By:
    • Kaiyrzhanov, Rauan;
    • Rocca, Clarissa;
    • Suri, Mohnish;
    • Gulieva, Sughra;
    • Zaki, Maha S.;
    • Henig, Noa Z.;
    • Siquier, Karine;
    • Guliyeva, Ulviyya;
    • Mounir, Samir M.;
    • Marom, Daphna;
    • Allahverdiyeva, Aynur;
    • Megahed, Hisham;
    • van Bokhoven, Hans;
    • Cantagrel, Vincent;
    • Rad, Aboulfazl;
    • Pourkeramti, Alemeh;
    • Dehghani, Boshra;
    • Shao, Diane D.;
    • Markus‐Bustani, Keren;
    • Sofrin‐Drucker, Efrat
    Publication type:
    Article
    3

    Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

    Published in:
    Genes, 2025, v. 16, n. 2, p. 169, doi. 10.3390/genes16020169
    By:
    • Rocca, Clarissa;
    • Murphy, David;
    • Clarkson, Chris;
    • Zanovello, Matteo;
    • Gagliardi, Delia;
    • Genomics, Queen Square;
    • Kaiyrzhanov, Rauan;
    • Alvi, Javeria;
    • Maroofian, Reza;
    • Efthymiou, Stephanie;
    • Sultan, Tipu;
    • Vandrovcova, Jana;
    • Polke, James;
    • Labrum, Robyn;
    • Houlden, Henry;
    • Tucci, Arianna
    Publication type:
    Article
    4
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    6

    The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 2003, doi. 10.1093/brain/awac391
    By:
    • Saffari, Afshin;
    • Kellner, Melanie;
    • Jordan, Catherine;
    • Rosengarten, Helena;
    • Mo, Alisa;
    • Zhang, Bo;
    • Strelko, Oleksandr;
    • Neuser, Sonja;
    • Davis, Marie Y;
    • Yoshikura, Nobuaki;
    • Futamura, Naonobu;
    • Takeuchi, Tomoya;
    • Nabatame, Shin;
    • Ishiura, Hiroyuki;
    • Tsuji, Shoji;
    • Aldeen, Huda Shujaa;
    • Cali, Elisa;
    • Rocca, Clarissa;
    • Houlden, Henry;
    • Efthymiou, Stephanie
    Publication type:
    Article
    7

    Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.

    Published in:
    Annals of Neurology, 2022, v. 92, n. 2, p. 304, doi. 10.1002/ana.26381
    By:
    • Calame, Daniel G.;
    • Herman, Isabella;
    • Maroofian, Reza;
    • Marshall, Aren E.;
    • Donis, Karina Carvalho;
    • Fatih, Jawid M.;
    • Mitani, Tadahiro;
    • Du, Haowei;
    • Grochowski, Christopher M.;
    • Sousa, Sergio B.;
    • Gijavanekar, Charul;
    • Bakhtiari, Somayeh;
    • Ito, Yoko A.;
    • Rocca, Clarissa;
    • Hunter, Jill V.;
    • Sutton, V. Reid;
    • Emrick, Lisa T.;
    • Boycott, Kym M.;
    • Lossos, Alexander;
    • Fellig, Yakov
    Publication type:
    Article
    8
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    11

    Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.

    Published in:
    Movement Disorders, 2024, v. 39, n. 3, p. 486, doi. 10.1002/mds.29704
    By:
    • Chen, Zhongbo;
    • Gustavsson, Emil K.;
    • Macpherson, Hannah;
    • Anderson, Claire;
    • Clarkson, Chris;
    • Rocca, Clarissa;
    • Self, Eleanor;
    • Alvarez Jerez, Pilar;
    • Scardamaglia, Annarita;
    • Pellerin, David;
    • Montgomery, Kylie;
    • Lee, Jasmaine;
    • Gagliardi, Delia;
    • Luo, Huihui;
    • Hardy, John;
    • Polke, James;
    • Singleton, Andrew B.;
    • Blauwendraat, Cornelis;
    • Mathews, Katherine D.;
    • Tucci, Arianna
    Publication type:
    Article
    12
    13

    Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01258-4
    By:
    • Lin, Sheng-Jia;
    • Vona, Barbara;
    • Lau, Tracy;
    • Huang, Kevin;
    • Zaki, Maha S.;
    • Aldeen, Huda Shujaa;
    • Karimiani, Ehsan Ghayoor;
    • Rocca, Clarissa;
    • Noureldeen, Mahmoud M.;
    • Saad, Ahmed K.;
    • Petree, Cassidy;
    • Bartolomaeus, Tobias;
    • Abou Jamra, Rami;
    • Zifarelli, Giovanni;
    • Gotkhindikar, Aditi;
    • Wentzensen, Ingrid M.;
    • Liao, Mingjuan;
    • Cork, Emalyn Elise;
    • Varshney, Pratishtha;
    • Hashemi, Narges
    Publication type:
    Article
    14
    15

    Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.

    Published in:
    Frontiers in Molecular Neuroscience, 2024, p. 01, doi. 10.3389/fnmol.2024.1222935
    By:
    • Efthymiou, Stephanie;
    • Han, Wenyan;
    • Ilyas, Muhammad;
    • Jun Li;
    • Yichao Yu;
    • Scala, Marcello;
    • Malintan, Nancy T.;
    • Vavouraki, Nikoleta;
    • Mankad, Kshitij;
    • Maroofian, Reza;
    • Rocca, Clarissa;
    • Salpietro, Vincenzo;
    • Lakhani, Shenela;
    • Mallack, Eric J.;
    • Palculict, Timothy Blake;
    • Hong Li;
    • Guojun Zhang;
    • Zafar, Faisal;
    • Rana, Nuzhat;
    • Noriko Takashima
    Publication type:
    Article