In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

Myofibrillar myopathies (MFMs) are an expanding and increasingly recognized group of neuromuscular disorders caused by mutations in DES, CRYAB, MYOT, and ZASP. The latest gene to be associated with MFM was FLNC; a p.W2710X mutation in the 24th immunoglobulin-like repeat of filamin C was shown to be...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Shatunov, A, Olivé, M, Odgerel, Z, Stadelmann-Nessler, C, Irlbacher, K, van Landeghem, F, Bayarsaikhan, M, Lee, H, Goudeau, B, Chinnery, P, Straub, V, Hilton-Jones, D, Damian, MS, Kaminska, A, Vicart, P, Bushby, K, Dalakas, M, Sambuughin, N, Ferrer, I, Goebel, H, Goldfarb, L
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	2009

Παρόμοια τεκμήρια

Desmin myopathy: Distinct filamentopathy caused by mutations in the desmin gene
ανά: Dalakas, M, κ.ά.
Έκδοση: (2002)

Myopathies
ανά: Hilton-Jones, D
Έκδοση: (2001)

Myopathies
ανά: Hilton-Jones, D
Έκδοση: (1995)

Design & development on a myofibrillar force measurement system
ανά: Judohandoko, Kevin
Έκδοση: (2015)

Miscellaneous myopathies.
ανά: Hilton-Jones, D
Έκδοση: (2007)

Evidence for the mechanosensor function of filamin in tissue development
ανά: Huelsmann, S, κ.ά.
Έκδοση: (2016)

Myopathies in the older patient
ανά: Hilton-Jones, D, κ.ά.
Έκδοση: (2006)

Myopathies in the adult patient
ανά: Hilton-Jones, D
Έκδοση: (2012)

The cross-linking mechanism of filamin A in the actin cytoskeleton
ανά: Hartemink, Christopher Allan, 1974-
Έκδοση: (2008)

The molecular basis of filamin binding to integrins and competition with talin.
ανά: Kiema, T, κ.ά.
Έκδοση: (2006)

A meckelin-filamin A interaction mediates ciliogenesis.
ανά: Adams, M, κ.ά.
Έκδοση: (2012)

Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
ανά: Dagvadorj, A, κ.ά.
Έκδοση: (2003)

Modeling the interaction between actin and filamin 1 in the cell cytoskeleton
ανά: Hartemink, Christopher Allan, 1974-
Έκδοση: (2013)

Normal passive viscoelasticity but abnormal myofibrillar force generation in human hypertrophic cardiomyopathy.
ανά: Hoskins, A, κ.ά.
Έκδοση: (2010)

Effect of various types of egg white on characteristics and gelation of fish myofibrillar proteins.
ανά: Hunt, A, κ.ά.
Έκδοση: (2009)

Observations on the classification of the inflammatory myopathies.
ανά: Hilton-Jones, D
Έκδοση: (2011)

Pathogenesis of primary inflammatory myopathies
ανά: Benveniste, O, κ.ά.
Έκδοση: (2004)

Observations on the classification of the inflammatory myopathies
ανά: Hilton-Jones, D
Έκδοση: (2011)

[Pathogenesis of primary inflammatory myopathies].
ανά: Benveniste, O, κ.ά.
Έκδοση: (2004)

Classification and diagnosis of myopathies - An update
ανά: Hilton-Jones, D
Έκδοση: (2001)

Myopathy associated with statin therapy.
ανά: Hilton-Jones, D
Έκδοση: (2008)

Mapping interactions of filamin and migfilin : mechanism of inside-out signaling integrins.
ανά: Lu, Lewis Zhiping.
Έκδοση: (2013)

Integrin binding immunoglobulin type filamin domains have variable stability.
ανά: Jiang, P, κ.ά.
Έκδοση: (2008)

Structural basis of the migfilin-filamin interaction and competition with integrin beta tails.
ανά: Lad, Y, κ.ά.
Έκδοση: (2008)

Cardiac malformations and midline skeletal defects in mice lacking filamin A.
ανά: Hart, A, κ.ά.
Έκδοση: (2006)

Effects of palm fats on physicochemical properties of myofibrillar protein in the production of low-fat sausage
ανά: Nurul Shaeera Sulaiman
Έκδοση: (2023)

ClinicopathologicalFeatures of telbivudine-associated myopathy
ανά: Ambang, T., κ.ά.
Έκδοση: (2016)

Approach to critical illness polyneuropathy and myopathy.
ανά: Pati, S, κ.ά.
Έκδοση: (2008)

Seventh Annual Report. 1977
ανά: Irish Welfare Bureau, IWB
Έκδοση: (1977)

Seven Remarks on the Seventh Angel
ανά: Foucault, M
Έκδοση: (2017)

Structure of three tandem filamin domains reveals auto-inhibition of ligand binding
ανά: Lad, Y, κ.ά.
Έκδοση: (2007)

Structure of three tandem filamin domains reveals auto-inhibition of ligand binding.
ανά: Lad, Y, κ.ά.
Έκδοση: (2007)

Necrotizing autoimmune myopathy: a case series
ανά: Sulaiman Sahari, Narisa, κ.ά.
Έκδοση: (2020)

The role of Z-disc proteins in myopathy and cardiomyopathy
ανά: Wadmore, K, κ.ά.
Έκδοση: (2021)

Genome-wide association of statin-induced myopathy
ανά: Link, E
Έκδοση: (2009)

Immunosuppressive and immunomodulatory therapies for idiopathic inflammatory myopathies
ανά: Raaphorst, J, κ.ά.
Έκδοση: (2023)

Oculopharyngodistal myopathy--a possible association with cardiomyopathy.
ανά: Thevathasan, W, κ.ά.
Έκδοση: (2011)

Myofibrillar protein profile of Pectoralis major muscle in broiler chickens subjected to different freezing and thawing methods
ανά: Dauda, Adeyemi Kazeem, κ.ά.
Έκδοση: (2014)

Transactions of the Seventh International Congress on the Enlightenment
Έκδοση: (2017)

Seventy-seventh annual report: 2001
Έκδοση: (2002)