Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Thomas L. Winder"'
Autor:
Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, Sarah Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J. Sumner, P. James B. Dyck, Klaas J. Wierenga, Gihan Tennekoon, Richard S. Finkel, Jiani Chen, Thomas L. Winder, Nathan P. Staff, A. Reghan Foley, Manuel Koch, Carsten G. Bönnemann
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 1980-1988 (2019)
Abstract Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1. Methods Patients with dominant COL12A1‐related myopathies were characterized by h
Externí odkaz:
https://doaj.org/article/8783869b7a1b4355a5a49ddec2739631
Autor:
B. Monica Bowen, Rebecca Truty, Swaroop Aradhya, Sara L. Bristow, Britt A. Johnson, Ana Morales, Christopher A. Tan, M. Jody Westbrook, Thomas L. Winder, Juan C. Chavez
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Spinal muscular atrophy (SMA) linked to chromosome 5q is an inherited progressive neuromuscular disorder with a narrow therapeutic window for optimal treatment. Although genetic testing provides a definitive molecular diagnosis that can f
Externí odkaz:
https://doaj.org/article/e565011b6be84a82b20cd5eb0a778177
Autor:
Kelly A. Rich, Tia Moscarello, Carly Siskind, Guy Brock, Christopher A. Tan, Matteo Vatta, Thomas L. Winder, Bakri Elsheikh, Leah Vicini, Brianna Tucker, Marilly Palettas, Ray E. Hershberger, John T. Kissel, Ana Morales, Jennifer Roggenbuck
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background Variants in TTN are frequently identified in the genetic evaluation of skeletal myopathy or cardiomyopathy. However, due to the high frequency of TTN variants in the general population, incomplete penetrance, and limited understan
Externí odkaz:
https://doaj.org/article/c9ff0cedae104cbf87a7dbbc61d9cf7f
Autor:
Nathaniel M. Robbins, Jillian R. Ozmore, Thomas L. Winder, Pedro Gonzalez-Alegre, Tanya M. Bardakjian
Publikováno v:
Case Reports in Neurological Medicine, Vol 2020 (2020)
Some causes of spastic paraplegia are treatable and many are not. Diagnostic work-up to determine the etiology can be costly and invasive. Here we report the case of a man with slowly progressive spastic paraparesis. Using a multigene next-generation
Externí odkaz:
https://doaj.org/article/9ee1004b67d44a0fa97d356d195f83fe
Autor:
Marjorie Jody Westbrook, Thomas L. Winder, Daniel J. Kvitek, Michael Kennemer, Christopher A. Tan, Rebecca Truty, Perry B. Shieh
Publikováno v:
Genetic Testing and Molecular Biomarkers. 24:616-624
Background: Spinal muscular atrophy (SMA) is traditionally molecularly diagnosed by multiplex ligation-dependent probe amplification or quantitative polymerase chain reaction (qPCR). SMA analyses are not routinely incorporated into gene panel analyse
Autor:
Daniel Ezzo, Livija Medne, Tracy Ogata, Ying Hu, Sandra Donkervoort, Jiani Chen, Richard S. Finkel, Thomas L. Winder, Nathan P. Staff, Dimah Saade, S. Neuhaus, Véronique Bolduc, Manuel Koch, Gihan Tennekoon, P. James B. Dyck, A. Reghan Foley, Carsten G. Bönnemann, Payam Mohassel, Klaas J. Wierenga, Yaqun Zou, Teerin Liewluck, Charlotte J. Sumner
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 1980-1988 (2019)
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 1980-1988 (2019)
Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1. Methods Patients with dominant COL12A1‐related myopathies were characterized by history an
Autor:
Rebecca Truty, Ana Morales, Swaroop Aradhya, Sara L. Bristow, Thomas L. Winder, B Monica Bowen, M Jody Westbrook, Britt Johnson, C. Tan, Juan C. Chavez
Publikováno v:
Frontiers in Neurology
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology, Vol 12 (2021)
Background: Spinal muscular atrophy (SMA) linked to chromosome 5q is an inherited progressive neuromuscular disorder with a narrow therapeutic window for optimal treatment. Although genetic testing provides a definitive molecular diagnosis that can f
Autor:
Thomas L Winder, Jillian R Ozmore, Tanya Bardakjian, Nathaniel M. Robbins, Pedro Gonzalez-Alegre
Publikováno v:
Case Reports in Neurological Medicine, Vol 2020 (2020)
Case Reports in Neurological Medicine
Case Reports in Neurological Medicine
Some causes of spastic paraplegia are treatable and many are not. Diagnostic work-up to determine the etiology can be costly and invasive. Here we report the case of a man with slowly progressive spastic paraparesis. Using a multigene next-generation
Autor:
Leah Vicini, Brianna M. Tucker, John T. Kissel, Kelly A. Rich, Tia Moscarello, Matteo Vatta, Guy Brock, Bakri Elsheikh, Ana Morales, Jennifer Roggenbuck, Ray E. Hershberger, C. Tan, Marilly Palettas, Carly E. Siskind, Thomas L. Winder
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Variants in TTN are frequently identified in the genetic evaluation of skeletal myopathy or cardiomyopathy. However, due to the high frequency of TTN variants in the general population, incomplete penetrance, and limited understanding of t
Autor:
Rebecca Truty, Thomas L. Winder, Sarah Klemm, Christopher A. Tan, Jody Westbrook, Swaroop Aradhya, Ali Entezam, Elizabeth M. McNally, James Z. Wang, Hannah White, Robert L. Nussbaum
Publikováno v:
Neurology: Genetics
ObjectiveMolecular genetic testing for hereditary neuromuscular disorders is increasingly used to identify disease subtypes, determine prevalence, and inform management and prognosis, and although many small disease-specific studies have demonstrated