Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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1 Online-Ressource.
- Sprache
-
Englisch
- Erschienen in
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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy ; volume:56 ; number:3 ; day:1 ; month:3 ; year:2024 ; pages:395-407 ; date:3.2024
Nature genetics ; 56, Heft 3 (1.3.2024), 395-407, 3.2024
- Urheber
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Töpf, Ana
Cox, Dan
Zaharieva, Irina T.
Leo, Valeria Di
Sarparanta, Jaakko
Jonson, Per Harald
Sealy, Ian M.
Smolnikov, Andrei
White, Richard J.
Vihola, Anna
Savarese, Marco
Merteroglu, Munise
Wali, Neha
Laricchia, Kristen M.
Venturini, Cristina
Vroling, Bas
Stenton, Sarah L.
Cummings, Beryl B.
Harris, Elizabeth
Marini-Bettolo, Chiara
Diaz-Manera, Jordi
Henderson, Matt
Barresi, Rita
Duff, Jennifer
England, Eleina M.
Patrick, Jane
Al-Husayni, Sundos
Biancalana, Valerie
Beggs, Alan H.
Bodi, Istvan
Bommireddipalli, Shobhana
Bönnemann, Carsten G.
Cairns, Anita
Chiew, Mei-Ting
Claeys, Kristl G.
Cooper, Sandra T.
Davis, Mark R.
Donkervoort, Sandra
Erasmus, Corrie E.
Fassad, Mahmoud R.
Genetti, Casie A.
Grosmann, Carla
Jungbluth, Heinz
Kamsteeg, Erik-Jan
Lornage, Xavière
Löscher, Wolfgang N.
Malfatti, Edoardo
Manzur, Adnan
Martí, Pilar
Mongini, Tiziana E.
Muelas, Nuria
Nishikawa, Atsuko
O'Donnell-Luria, Anne H.
Ogonuki, Narumi
O’Grady, Gina L.
O’Heir, Emily
Paquay, Stéphanie
Phadke, Rahul
Pletcher, Beth A.
Romero, Norma B.
Schouten, Meyke
Shah, Snehal
Smuts, Izelle
Sznajer, Yves
Tasca, Giorgio
Taylor, Robert W.
Tuite, Allysa
Bergh, Peter Van den
VanNoy, Grace
Voermans, Nicol C.
Wanschitz, Julia V.
Wraige, Elizabeth
Yoshimura, Kimihiko
Oates, Emily C.
Nakagawa, Osamu
Nishino, Ichizo
Laporte, Jocelyn
Vilchez, Juan J.
MacArthur, Daniel G.
Sarkozy, Anna
Cordell, Heather J.
Udd, Bjarne
Busch-Nentwich, Elisabeth M.
Muntoni, Francesco
Straub, Volker
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1038/s41588-023-01651-0
- URN
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urn:nbn:de:101:1-2405152116583.666906997572
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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14.08.2025, 10:53 MESZ
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Beteiligte
- Töpf, Ana
- Cox, Dan
- Zaharieva, Irina T.
- Leo, Valeria Di
- Sarparanta, Jaakko
- Jonson, Per Harald
- Sealy, Ian M.
- Smolnikov, Andrei
- White, Richard J.
- Vihola, Anna
- Savarese, Marco
- Merteroglu, Munise
- Wali, Neha
- Laricchia, Kristen M.
- Venturini, Cristina
- Vroling, Bas
- Stenton, Sarah L.
- Cummings, Beryl B.
- Harris, Elizabeth
- Marini-Bettolo, Chiara
- Diaz-Manera, Jordi
- Henderson, Matt
- Barresi, Rita
- Duff, Jennifer
- England, Eleina M.
- Patrick, Jane
- Al-Husayni, Sundos
- Biancalana, Valerie
- Beggs, Alan H.
- Bodi, Istvan
- Bommireddipalli, Shobhana
- Bönnemann, Carsten G.
- Cairns, Anita
- Chiew, Mei-Ting
- Claeys, Kristl G.
- Cooper, Sandra T.
- Davis, Mark R.
- Donkervoort, Sandra
- Erasmus, Corrie E.
- Fassad, Mahmoud R.
- Genetti, Casie A.
- Grosmann, Carla
- Jungbluth, Heinz
- Kamsteeg, Erik-Jan
- Lornage, Xavière
- Löscher, Wolfgang N.
- Malfatti, Edoardo
- Manzur, Adnan
- Martí, Pilar
- Mongini, Tiziana E.
- Muelas, Nuria
- Nishikawa, Atsuko
- O'Donnell-Luria, Anne H.
- Ogonuki, Narumi
- O’Grady, Gina L.
- O’Heir, Emily
- Paquay, Stéphanie
- Phadke, Rahul
- Pletcher, Beth A.
- Romero, Norma B.
- Schouten, Meyke
- Shah, Snehal
- Smuts, Izelle
- Sznajer, Yves
- Tasca, Giorgio
- Taylor, Robert W.
- Tuite, Allysa
- Bergh, Peter Van den
- VanNoy, Grace
- Voermans, Nicol C.
- Wanschitz, Julia V.
- Wraige, Elizabeth
- Yoshimura, Kimihiko
- Oates, Emily C.
- Nakagawa, Osamu
- Nishino, Ichizo
- Laporte, Jocelyn
- Vilchez, Juan J.
- MacArthur, Daniel G.
- Sarkozy, Anna
- Cordell, Heather J.
- Udd, Bjarne
- Busch-Nentwich, Elisabeth M.
- Muntoni, Francesco
- Straub, Volker
- SpringerLink (Online service)
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Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
Smooth muscle titin in embryo implantation and angiogenesis
Combined in vivo muscle mass, muscle protein synthesis and muscle protein breakdown measurement: a ‘Combined Oral Stable Isotope Assessment of Muscle (COSIAM)’ approach
Identification and characterization of novel vertebrate striated muscle proteins interacting with the giant titin and nebulin filament systems
Heat shock protein A4 ablation leads to skeletal muscle myopathy associated with dysregulated autophagy and induced apoptosis
Characterisation of the truncated titin isoform Novex-3 from striated muscle
Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy
An Autonomous Chemically Fueled Artificial Protein Muscle
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Protein interactome of muscle invasive bladder cancer
Cyclo His‐Pro Attenuates Muscle Degeneration in Murine Myopathy Models
The giant protein titin regulates the length of the striated muscle thick filament
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
Smooth muscle titin in embryo implantation and angiogenesis
Combined in vivo muscle mass, muscle protein synthesis and muscle protein breakdown measurement: a ‘Combined Oral Stable Isotope Assessment of Muscle (COSIAM)’ approach
Identification and characterization of novel vertebrate striated muscle proteins interacting with the giant titin and nebulin filament systems
Heat shock protein A4 ablation leads to skeletal muscle myopathy associated with dysregulated autophagy and induced apoptosis
Characterisation of the truncated titin isoform Novex-3 from striated muscle
Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy
An Autonomous Chemically Fueled Artificial Protein Muscle
An autonomous chemically fueled artificial protein muscle
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