Skip to contents

  1. Vissing, John; Barresi, Rita; Witting, Nanna; Van Ghelue, Marijke; Gammelgaard, Lise; Bindoff, Laurence A.; Straub, Volker; Lochmüller, Hanns; Hudson, Judith; Wahl, Christoph M.; Arnardottir, Snjolaug; Dahlbom, Kathe; Jonsrud, Christoffer; Duno, Morten

    A heterozygous 21-bp deletion inCAPN3causes dominantly inherited limb girdle muscular dystrophy

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Oxford University Press (OUP), 2016

    Published in: Brain

  3. Haddad, Tariq Sami; Lugli, Alessandro; Aherne, Susan; Barresi, Valeria; Terris, Benoît; Bokhorst, John-Melle; Brockmoeller, Scarlet Fiona; Cuatrecasas, Miriam; Simmer, Femke; El-Zimaity, Hala; Fléjou, Jean-François; Gibbons, David; Cathomas, Gieri; Kirsch, Richard; Kuhlmann, Tine Plato; Langner, Cord; Loughrey, Maurice B.; Riddell, Robert; Ristimäki, Ari; Kakar, Sanjay; Sheahan, Kieran; Treanor, Darren; van der Laak, Jeroen; Vieth, Michael; [...]

    Improving tumor budding reporting in colorectal cancer: a Delphi consensus study

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2021

    Published in: Virchows Archiv

  4. Dong, Xiaomin; Tan, Natalie B.; Howell, Katherine B.; Barresi, Sabina; Freeman, Jeremy L.; Vecchio, Davide; Piccione, Maria; Radio, Francesca Clementina; Calame, Daniel; Zong, Shan; Eggers, Stefanie; Scheffer, Ingrid E.; Tan, Tiong Y.; Van Bergen, Nicole J.; Tartaglia, Marco; Christodoulou, John; White, Susan M.

    Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Elsevier BV, 2020

    Published in: The American Journal of Human Genetics

  5. Moore, Steven A.; Shilling, Christopher J.; Westra, Steven; Wall, Cheryl; Wicklund, Matthew P.; Stolle, Catherine; Brown, Charlotte A.; Michele, Daniel E.; Piccolo, Federica; Winder, Thomas L.; Stence, Aaron; Barresi, Rita; King, Nick; King, Wendy; Florence, Julaine; Campbell, Kevin P.; Fenichel, Gerald M.; Stedman, Hansell H.; Kissel, John T.; Griggs, Robert C.; Pandya, Shree; Mathews, Katherine D.; Pestronk, Alan; Serrano, Carmen; [...]

    Limb-Girdle Muscular Dystrophy in the United States

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Oxford University Press (OUP), 2006

    Published in: Journal of Neuropathology and Experimental Neurology

  6. Sarkozy, Anna; Hicks, Debbie; Hudson, Judith; Laval, Steve H.; Barresi, Rita; Hilton-Jones, David; Deschauer, Marcus; Harris, Elizabeth; Rufibach, Laura; Hwang, Esther; Bashir, Rumaisa; Walter, Maggie C.; Krause, Sabine; van den Bergh, Peter; Illa, Isabel; Pénisson-Besnier, Isabelle; De Waele, Liesbeth; Turnbull, Doug; Guglieri, Michela; Schrank, Bertold; Schoser, Benedikt; Seeger, Jürgen; Schreiber, Herbert; Gläser, Dieter; [...]

    ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Hindawi Limited, 2013

    Published in: Human Mutation

  7. Mirian, Christian; Jensen, Lasse Rehné; Juratli, Tareq A.; Maier, Andrea Daniela; Torp, Sverre H.; Shih, Helen A.; Morshed, Ramin A.; Young, Jacob S.; Magill, Stephen T.; Bertero, Luca; Stummer, Walter; Spille, Dorothee Cäcilia; Brokinkel, Benjamin; Oya, Soichi; Miyawaki, Satoru; Saito, Nobuhito; Proescholdt, Martin; Kuroi, Yasuhiro; Gousias, Konstantinos; Simon, Matthias; Moliterno, Jennifer; Prat-Acin, Ricardo; Goutagny, Stéphane; Prabhu, Vikram C.; [...]

    The importance of considering competing risks in recurrence analysis of intracranial meningioma

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2024

    Published in: Journal of Neuro-Oncology

  8. Pagnamenta, Alistair T; Kaiyrzhanov, Rauan; Zou, Yaqun; Da'as, Sahar I; Maroofian, Reza; Donkervoort, Sandra; Dominik, Natalia; Lauffer, Marlen; Ferla, Matteo P; Orioli, Andrea; Giess, Adam; Tucci, Arianna; Beetz, Christian; Sedghi, Maryam; Ansari, Behnaz; Barresi, Rita; Basiri, Keivan; Cortese, Andrea; Elgar, Greg; Fernandez-Garcia, Miguel A; Yip, Janice; Foley, A Reghan; Gutowski, Nicholas; Jungbluth, Heinz; [...]

    An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Oxford University Press (OUP), 2021

    Published in: Brain

  9. Bryant, Laura; Li, Dong; Cox, Samuel G.; Marchione, Dylan; Joiner, Evan F.; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E.; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J.; Wadley, Alexandrea; Mancini, Grazia M. S.; Powell-Hamilton, Nina; van de Kamp, Jiddeke; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P.; Powis, Zoe; Cho, Megan T.; Willing, Marcia C.; [...]

    Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    American Association for the Advancement of Science (AAAS), 2020

    Published in: Science Advances

  10. Chiriboga, Claudia A.; Bruno, Claudio; Duong, Tina; Fischer, Dirk; Mercuri, Eugenio; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Jaber, Birgit; Gorni, Ksenija; Kletzl, Heidemarie; Carruthers, Imogen; Martin, Carmen; Warren, Francis; Scalco, Renata S.; Wagner, Kathryn R.; Muntoni, Francesco; Deconinck, Nicolas; Balikova, Irina; Joniau, Inge; Tahon, Valentine; Wittevrongel, Sylvia; Goemans, Nathalie; Cassiman, Catherine; Prove, Lies; [...]

    Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2023

    Published in: Neurology and Therapy

  11. Chiriboga, Claudia A.; Bruno, Claudio; Duong, Tina; Fischer, Dirk; Mercuri, Eugenio; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Jaber, Birgit; Gorni, Ksenija; Kletzl, Heidemarie; Carruthers, Imogen; Martin, Carmen; Warren, Francis; Scalco, Renata S.; Wagner, Kathryn R.; Muntoni, Francesco; Deconinck, Nicolas; Balikova, Irina; Joniau, Inge; Tahon, Valentine; Wittevrongel, Sylvia; Goemans, Nathalie; Cassiman, Catherine; Prove, Lies; [...]

    Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2023

    Published in: Neurology and Therapy