Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Tahseen Mozaffar"'
Clinical utility of anti‐cytosolic 5’‐nucleotidase 1A antibody in idiopathic inflammatory myopathies
Autor:
Leo H. Wang, Namita Goyal, Alan Pestronk, Jonathan Cauchi, Conrad C. Weihl, Yessar Hussain, Sarah Robinson, Chiseko Ikenaga, Joshua C. Kershen, Michael Wallendorf, Robert C. Bucelli, Andrew R. Findlay, Tahseen Mozaffar, Brent A. Beson
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 571-578 (2021)
Annals of clinical and translational neurology, vol 8, iss 3
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, vol 8, iss 3
Annals of Clinical and Translational Neurology
Author(s): Ikenaga, Chiseko; Findlay, Andrew R; Goyal, Namita A; Robinson, Sarah; Cauchi, Jonathan; Hussain, Yessar; Wang, Leo H; Kershen, Joshua C; Beson, Brent A; Wallendorf, Michael; Bucelli, Robert C; Mozaffar, Tahseen; Pestronk, Alan; Weihl, Con
Autor:
Gil I. Wolfe, Mamatha Pasnoor, Hans de Haard, Tahseen Mozaffar, Peter Ulrichts, Gestur Vidarsson, E. Sally Ward
Publikováno v:
Journal of the Neurological Sciences, 430, 1. Elsevier
The neonatal Fc receptor (FcRn) is an MHC class I-like molecule that is widely distributed in mammalian organs, tissues, and cells. FcRn is critical to maintaining immunoglobulin G (IgG) and albumin levels through rescuing these molecules from lysoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d39b1008c6311d6b652b9dd931b0f450
https://dspace.library.uu.nl/handle/1874/425385
https://dspace.library.uu.nl/handle/1874/425385
Autor:
Tahseen Mozaffar, John M. Ringman, John Parker, Joshua L. Deignan, Ashlynn Messmore, Virginia Kimonis
Publikováno v:
Neurosci Lett
Objective We report a 35 year-old male with childhood learning disability and early onset dementia who is homozygous for the A431E variant in the PSEN1 gene. Presenilin1 mutations are associated with autosomal dominant Alzheimer's dementia with young
Autor:
Tahseen Mozaffar, Charles D. Smith, Virginia Kimonis, Ebaa Al-Obeidi, Abhilasha Surampalli, Namita Goyal, Andreas Hermann, Molly Omizo, Annabel K. Wang, Sejad Al-Tahan
Publikováno v:
Clinical Genetics. 93:119-125
Mutations in valosin-containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic diff
Publikováno v:
MusclenerveREFERENCES. 62(5)
With the exception of thymectomy, immune modulatory treatment strategies and clinical trials in myasthenia gravis over the past 50 y were mainly borrowed from experience in other nonneurologic autoimmune disorders. The current experimental therapy pa
Autor:
Teresinha Evangelista, Silvère M. van der Maarel, Sabrina Sacconi, Meindert Lamers, Steven A. Moore, Nienke van der Stoep, Natalie D Shaw, Tahseen Mozaffar, David San Leon Granado, Richard J.L.F. Lemmers, Volker Straub, Alessandra Ferlini, Ana Töpf, Rita Selvatici, Patrick J. van der Vliet, Rabi Tawil, Virginia Kimonis, Baziel G.M. van Engelen, Katherine Johnson, Nicol C. Voermans
Publikováno v:
Journal of Medical Genetics, 56, 693-700
Journal of Medical Genetics, 56, 10, pp. 693-700
Journal of Medical Genetics, 56, 10, pp. 693-700
BackgroundVariants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 (SMCHD1) can cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) and the unrelated Bosma arhinia microphthalmia syndrome (BAMS). In FSH
Autor:
Tanya Stojkovic, José C. Milisenda, Ana Maria Cobo, Monika Raimondi, Fernando Silveira, Sarah Leonard-Louis, Marco Savarese, Ricardo Reisin, Lorenzo Maggi, Farzad Fatehi, Wolfram Kress, Sabrina Sacconi, Johanna Palmio, Sini Penttilä, Sergei Nikitin, Tahseen Mozaffar, Shahram Attarian, Bjarne Udd, Peter Hackman, Andrés Berardo, Sergei Kurbatov, Anna Lena Semmler, Tim Lai, Kristl G. Claeys, Andoni Urtizberea
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of neurology, vol 266, iss 3
Journal of Neurology
Journal of Neurology, Springer Verlag, 2019, 266 (3), pp.680-690. ⟨10.1007/s00415-019-09187-2⟩
Journal of neurology 266(3), 680-690 (2019). doi:10.1007/s00415-019-09187-2
Journal of Neurology, 2019, 266 (3), pp.680-690. ⟨10.1007/s00415-019-09187-2⟩
Universidad de Barcelona
Journal of neurology, vol 266, iss 3
Journal of Neurology
Journal of Neurology, Springer Verlag, 2019, 266 (3), pp.680-690. ⟨10.1007/s00415-019-09187-2⟩
Journal of neurology 266(3), 680-690 (2019). doi:10.1007/s00415-019-09187-2
Journal of Neurology, 2019, 266 (3), pp.680-690. ⟨10.1007/s00415-019-09187-2⟩
Journal of neurology 266(3), 680-690 (2019). doi:10.1007/s00415-019-09187-2
Published by Springer, Berlin ; Heidelberg
Published by Springer, Berlin ; Heidelberg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e80decf7ebb7d6acb1ebcb92e3e905ff
http://hdl.handle.net/2445/171996
http://hdl.handle.net/2445/171996
Autor:
Tahseen Mozaffar, Namita Goyal
Publikováno v:
Current Treatment Options in Neurology. 20
The purpose of this review is to update the audience on the recent progress in the treatment of idiopathic inflammatory myopathies, highlighting a myriad of treatment trials aimed at slowing down progression of muscle weakness and/or skin involvement
Autor:
Hal Landy, Robin H. Lachmann, Marie Wencel, Crista Walters, Manisha Kak, Priya S. Kishnani, Matt Appleby, Vincenzo Libri, Laura E. Case, Tahseen Mozaffar
Publikováno v:
Molecular Genetics and Metabolism. 126:S85-S86
Disease progression in Pompe Disease, a lysosomal storage disorder, occurs despite enzyme replacement therapy ERT, and is characterized by cytoplasmic accumulation of glycogen, presumably due to rupture or seepage of glycogen from lysosomes, defects
Autor:
Angèle Nalbandian, Agnesa Avanesian, Tahseen Mozaffar, Kwang-Mook Jung, Christopher Nguyen, Virginia Kimonis, Daniele Piomelli, Katrina J. Llewellyn
Publikováno v:
Llewellyn, Katrina J; Nalbandian, Angèle; Jung, Kwang-Mook; Nguyen, Christopher; Avanesian, Agnesa; Mozaffar, Tahseen; et al.(2014). Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease. Human Molecular Genetics, 23(5), 1333-1344. doi: 10.1093/hmg/ddt523. UC Irvine: Institute for Clinical and Translational Science. Retrieved from: http://www.escholarship.org/uc/item/0cv5910p
Valosin-containing protein (VCP)-associated disease caused by mutations in the VCP gene includes combinations of a phenotypically heterogeneous group of disorders such as hereditary inclusion body myopathy, Paget's disease of bone, frontotemporal dem