114 related articles for article (PubMed ID: 29039140)
1. CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.
Böhm J; Lornage X; Chevessier F; Birck C; Zanotti S; Cudia P; Bulla M; Granger F; Bui MT; Sartori M; Schneider-Gold C; Malfatti E; Romero NB; Mora M; Laporte J
Acta Neuropathol; 2018 Jan; 135(1):149-151. PubMed ID: 29039140
[No Abstract] [Full Text] [Related]
2. Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
Barone V; Del Re V; Gamberucci A; Polverino V; Galli L; Rossi D; Costanzi E; Toniolo L; Berti G; Malandrini A; Ricci G; Siciliano G; Vattemi G; Tomelleri G; Pierantozzi E; Spinozzi S; Volpi N; Fulceri R; Battistutta R; Reggiani C; Sorrentino V
Hum Mutat; 2017 Dec; 38(12):1761-1773. PubMed ID: 28895244
[TBL] [Abstract][Full Text] [Related]
3. A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
Rossi D; Vezzani B; Galli L; Paolini C; Toniolo L; Pierantozzi E; Spinozzi S; Barone V; Pegoraro E; Bello L; Cenacchi G; Vattemi G; Tomelleri G; Ricci G; Siciliano G; Protasi F; Reggiani C; Sorrentino V
Hum Mutat; 2014 Oct; 35(10):1163-70. PubMed ID: 25116801
[TBL] [Abstract][Full Text] [Related]
4. A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.
Di Blasi C; Sansanelli S; Ruggieri A; Moriggi M; Vasso M; D'Adamo AP; Blasevich F; Zanotti S; Paolini C; Protasi F; Tezzon F; Gelfi C; Morandi L; Pessia M; Mora M
J Med Genet; 2015 Sep; 52(9):617-26. PubMed ID: 26136523
[TBL] [Abstract][Full Text] [Related]
5. 50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.
Walter MC; Rossius M; Zitzelsberger M; Vorgerd M; Müller-Felber W; Ertl-Wagner B; Zhang Y; Brinkmeier H; Senderek J; Schoser B
Neuromuscul Disord; 2015 Jul; 25(7):577-84. PubMed ID: 25953320
[TBL] [Abstract][Full Text] [Related]
6. The clinical spectrum of
Semplicini C; Bertolin C; Bello L; Pantic B; Guidolin F; Vianello S; Catapano F; Colombo I; Moggio M; Gavassini BF; Cenacchi G; Papa V; Previtero M; Calore C; Sorarù G; Minervini G; Tosatto SCE; Stramare R; Pegoraro E
Neurology; 2018 Oct; 91(17):e1629-e1641. PubMed ID: 30258016
[TBL] [Abstract][Full Text] [Related]
7. Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation.
Hanna AD; Lee CS; Babcock L; Wang H; Recio J; Hamilton SL
FASEB J; 2021 May; 35(5):e21349. PubMed ID: 33786938
[TBL] [Abstract][Full Text] [Related]
8. Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.
González-Jamett AM; Baez-Matus X; Olivares MJ; Hinostroza F; Guerra-Fernández MJ; Vasquez-Navarrete J; Bui MT; Guicheney P; Romero NB; Bevilacqua JA; Bitoun M; Caviedes P; Cárdenas AM
Sci Rep; 2017 Jul; 7(1):4580. PubMed ID: 28676641
[TBL] [Abstract][Full Text] [Related]
9. An association study of CASQ1 gene polymorphisms and heat stroke.
Li Y; Wang Y; Ma L
Genomics Proteomics Bioinformatics; 2014 Jun; 12(3):127-32. PubMed ID: 24887214
[TBL] [Abstract][Full Text] [Related]
10. Mitochondrial alterations in dynamin 2-related centronuclear myopathy.
Zanoteli E; Vergani N; Campos Y; Vainzof M; Oliveira AS; d'Azzo A
Arq Neuropsiquiatr; 2009 Mar; 67(1):102-4. PubMed ID: 19330221
[No Abstract] [Full Text] [Related]
11. Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
Böhm J; Chevessier F; Koch C; Peche GA; Mora M; Morandi L; Pasanisi B; Moroni I; Tasca G; Fattori F; Ricci E; Pénisson-Besnier I; Nadaj-Pakleza A; Fardeau M; Joshi PR; Deschauer M; Romero NB; Eymard B; Laporte J
J Med Genet; 2014 Dec; 51(12):824-33. PubMed ID: 25326555
[TBL] [Abstract][Full Text] [Related]
12. Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy.
Lewis KM; Ronish LA; Ríos E; Kang C
J Biol Chem; 2015 Nov; 290(48):28665-74. PubMed ID: 26416891
[TBL] [Abstract][Full Text] [Related]
13. Congenital myopathies in the new millennium.
Goebel HH
J Child Neurol; 2005 Feb; 20(2):94-101. PubMed ID: 15794172
[TBL] [Abstract][Full Text] [Related]
14. Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype.
Fajardo VA; Bombardier E; McMillan E; Tran K; Wadsworth BJ; Gamu D; Hopf A; Vigna C; Smith IC; Bellissimo C; Michel RN; Tarnopolsky MA; Quadrilatero J; Tupling AR
Dis Model Mech; 2015 Aug; 8(8):999-1009. PubMed ID: 26035394
[TBL] [Abstract][Full Text] [Related]
15. [Tubular aggregate myopathy and Stormorken syndrome].
Böhm J; Laporte J
Med Sci (Paris); 2018 Nov; 34 Hors série n°2():26-31. PubMed ID: 30418142
[TBL] [Abstract][Full Text] [Related]
16. Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.
Tasca G; D'Amico A; Monforte M; Nadaj-Pakleza A; Vialle M; Fattori F; Vissing J; Ricci E; Bertini E
Neuromuscul Disord; 2015 Nov; 25(11):898-903. PubMed ID: 26255678
[TBL] [Abstract][Full Text] [Related]
17. Calcium Dyshomeostasis in Tubular Aggregate Myopathy.
Lee JM; Noguchi S
Int J Mol Sci; 2016 Nov; 17(11):. PubMed ID: 27879676
[TBL] [Abstract][Full Text] [Related]
18. Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.
Luan X; Chen B; Liu Y; Zheng R; Zhang W; Yuan Y
Neuropathology; 2009 Oct; 29(5):579-84. PubMed ID: 19077043
[TBL] [Abstract][Full Text] [Related]
19. A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.
Wang H; Schänzer A; Kampschulte B; Daimagüler HS; Logeswaran T; Schlierbach H; Petzinger J; Ehrhardt H; Hahn A; Cirak S
Acta Neuropathol Commun; 2018 Aug; 6(1):83. PubMed ID: 30157964
[No Abstract] [Full Text] [Related]
20. [Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the alphabeta-crystallin gene].
Pou Serradell A; Lloreta Trull J; Corominas Torres J; Guicheney P
Neurologia; 2001 May; 16(5):195-203. PubMed ID: 11412718
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]