Investigating the molecular mechanisms underlying the progression of collagen VI-related muscular dystrophies

被引：0
|
作者：
Guadagnin, E. [1 ]
Dastgir, J. [1 ]
Yang, L. [2 ]
Johnson, K. [1 ]
Wang, Q. [1 ]
Hu, Y. [1 ]
Dillmann, A. [3 ]
Cookson, M. [3 ]
Boennemann, C. [1 ]
机构：
[1] NINDS, NIH, Bethesda, MD 20892 USA
[2] Univ Kentucky, Lexington, KY 40506 USA
[3] NIA, NIH, Bethesda, MD 20892 USA
来源：
NEUROMUSCULAR DISORDERS | 2014年 / 24卷 / 9-10期
关键词：
D O I：
10.1016/j.nmd.2014.06.289
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
G.P.213
引用
收藏
页码：880 / 881
页数：2
相关论文
共 50 条
  • [1] New insights into the genetic diagnosis of collagen VI-related muscular dystrophies
    Peat, R
    Baker, N
    Jones, K
    Lamandé, S
    North, K
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2005, 238 : S167 - S167
  • [2] A Convolutional Neural Network for the automatic diagnosis of collagen VI-related muscular dystrophies
    Bazaga, Adrian
    Roldan, Monica
    Badosa, Carmen
    Jimenez-Mallebrera, Cecilia
    Porta, Josep M.
    APPLIED SOFT COMPUTING, 2019, 85
  • [3] Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies
    Almici, Enrico
    Chiappini, Vanessa
    Lopez-Marquez, Aristides
    Badosa, Carmen
    Blazquez, Blanca
    Caballero, David
    Montero, Joan
    Natera-de Benito, Daniel
    Nascimento, Andres
    Roldan, Monica
    Lagunas, Anna
    Jimenez-Mallebrera, Cecilia
    Samitier, Josep
    FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY, 2022, 10
  • [4] Clinical features of collagen VI-related dystrophies: A large Brazilian cohort
    Zanoteli, Edmar
    Soares, Priscilla Souza
    Serafim da Silva, Andre Macedo
    Camelo, Clara Gontijo
    Santos Monteiro Fonseca, Alulin Tacio Quadros
    Veloso Albuquerque, Marco Antinio
    Martins Moreno, Cristiane Araujo
    Abath Neto, Osorio Lopes
    Novo Filho, Gil Monteiro
    Kulikowski, Leslie Domenici
    Reed, Umbertina Conti
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2020, 192
  • [5] Disruption of bioavailability of TGFβ in collagen VI-related muscular dystrophy
    Mohassel, P.
    Rooney, J.
    Nalls, M.
    Yun, P.
    Sleboda, D.
    Roberts, T.
    Zou, Y.
    Bonnemann, C.
    NEUROMUSCULAR DISORDERS, 2019, 29 : S126 - S126
  • [6] Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophies
    White, Tom
    Lopez-Marquez, Aristides
    Badosa, Carmen
    Jimenez-Mallebrera, Ceclila
    Samitier, Josep
    Giannotti, Marina Ines
    Lagunas, Anna
    JOURNAL OF THE ROYAL SOCIETY INTERFACE, 2025, 22 (224)
  • [7] Collagen VI-related myopathy
    Prottengeier, Johannes
    Shammas, Kathy
    Smith, Jonathan
    ANASTHESIOLOGIE & INTENSIVMEDIZIN, 2020, 61 : S20 - S26
  • [8] Collagen VI-related neuropathy
    Arntzen, K.
    Mueller, K.
    Loseth, S.
    Mellgren, S.
    Bagenholm, A.
    Halvorsen, H.
    Buvang, E.
    Hoem, G.
    Jonsrud, C.
    Van Ghelue, M.
    NEUROMUSCULAR DISORDERS, 2021, 31 : S66 - S66
  • [9] Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies
    Guadagnin, Eleonora
    Mohassel, Payam
    Johnson, Kory R.
    Yang, Lin
    Santi, Mariarita
    Uapinyoying, Prech
    Dastgir, Jahannaz
    Hu, Ying
    Dillmann, Allissa
    Cookson, Mark R.
    Foley, A. Reghan
    Bonnemann, Carsten G.
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2021, 8 (11): : 2184 - 2198
  • [10] Disruption of Bioavailability of TGF-beta in Collagen VI-Related Muscular Dystrophy
    Mohassel, Payam
    Rooney, Jachinta
    Nalls, Matthew
    Yun, Pomi
    Sleboda, David A.
    Roberts, Thomas J.
    Zou, Yaqun
    Bonnemann, Carsten G.
    ANNALS OF NEUROLOGY, 2019, 86 : S276 - S276
12345