148 related articles for article (PubMed ID: 27941137)
1. Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.
Brady S; Healy EG; Gang Q; Parton M; Quinlivan R; Jacob S; Curtis E; Al-Sarraj S; Sewry CA; Hanna MG; Houlden H; Beeson D; Holton JL
J Neuropathol Exp Neurol; 2016 Dec; 75(12):1171-1178. PubMed ID: 27941137
[TBL] [Abstract][Full Text] [Related]
2. Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
Bauché S; Vellieux G; Sternberg D; Fontenille MJ; De Bruyckere E; Davoine CS; Brochier G; Messéant J; Wolf L; Fardeau M; Lacène E; Romero N; Koenig J; Fournier E; Hantaï D; Streichenberger N; Manel V; Lacour A; Nadaj-Pakleza A; Sukno S; Bouhour F; Laforêt P; Fontaine B; Strochlic L; Eymard B; Chevessier F; Stojkovic T; Nicole S
J Neurol; 2017 Aug; 264(8):1791-1803. PubMed ID: 28712002
[TBL] [Abstract][Full Text] [Related]
3. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V; Müller JS; Dusl M; Senderek J; Oldfors A; Lindbergh C; Maxwell S; Colomer J; Mallebrera CJ; Nascimento A; Vilchez JJ; Muelas N; Kirschner J; Nafissi S; Kariminejad A; Nilipour Y; Bozorgmehr B; Najmabadi H; Rodolico C; Sieb JP; Schlotter B; Schoser B; Herrmann R; Voit T; Steinlein OK; Najafi A; Urtizberea A; Soler DM; Muntoni F; Hanna MG; Chaouch A; Straub V; Bushby K; Palace J; Beeson D; Abicht A; Lochmüller H
J Neurol; 2012 May; 259(5):838-50. PubMed ID: 21975507
[TBL] [Abstract][Full Text] [Related]
4. Cylindrical spirals in two families: Clinical and genetic investigations.
Beecroft SJ; Olive M; Quereda LG; Gallano P; Ojanguren I; McLean C; McCombe P; Laing NG; Ravenscroft G
Neuromuscul Disord; 2020 Feb; 30(2):151-158. PubMed ID: 31952901
[TBL] [Abstract][Full Text] [Related]
5. Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates.
Luo HY; Zhao L; Mao CY; Yang ZH; Yang J; Wang YL; Niu HX; Liu YT; Shi CH; Xu YM
Neuromuscul Disord; 2019 Jul; 29(7):549-553. PubMed ID: 31255525
[TBL] [Abstract][Full Text] [Related]
6. The origin of tubular aggregates in human myopathies.
Chevessier F; Bauché-Godard S; Leroy JP; Koenig J; Paturneau-Jouas M; Eymard B; Hantaï D; Verdière-Sahuqué M
J Pathol; 2005 Nov; 207(3):313-23. PubMed ID: 16178054
[TBL] [Abstract][Full Text] [Related]
7. Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation.
Jiang K; Zheng Y; Lin J; Wu X; Yu Y; Zhu M; Fang X; Zhou M; Li X; Hong D
Brain Behav; 2022 Feb; 12(2):e2469. PubMed ID: 34978387
[TBL] [Abstract][Full Text] [Related]
8. Morphological spectrum and clinical features of myopathies with tubular aggregates.
Funk F; Ceuterick-de Groote C; Martin JJ; Meinhardt A; Taratuto AL; De Bleecker J; Van Coster R; De Paepe B; Schara U; Vorgerd M; Häusler M; Koppi S; Maschke M; De Jonghe P; Van Maldergem L; Noel S; Zimmermann CW; Wirth S; Isenmann S; Stadler R; Schröder JM; Schulz JB; Weis J; Claeys KG
Histol Histopathol; 2013 Aug; 28(8):1041-54. PubMed ID: 23479431
[TBL] [Abstract][Full Text] [Related]
9. Structure and composition of tubular aggregates of skeletal muscle fibres.
Pavlovicová M; Novotová M; Zahradník I
Gen Physiol Biophys; 2003 Dec; 22(4):425-40. PubMed ID: 15113116
[TBL] [Abstract][Full Text] [Related]
10. Muscle pain associated with tubular aggregates and structures resembling cylindrical spirals.
Danon MJ; Carpenter S; Harati Y
Muscle Nerve; 1989 Apr; 12(4):265-72. PubMed ID: 2770779
[TBL] [Abstract][Full Text] [Related]
11. Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).
Chen Q; Müller JS; Pang PC; Laval SH; Haslam SM; Lochmüller H; Dell A
Biomolecules; 2015 Oct; 5(4):2758-81. PubMed ID: 26501342
[TBL] [Abstract][Full Text] [Related]
12. Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations.
Huh SY; Kim HS; Jang HJ; Park YE; Kim DS
Muscle Nerve; 2012 Oct; 46(4):600-4. PubMed ID: 22987706
[TBL] [Abstract][Full Text] [Related]
13. Tubular aggregate myopathy with abnormal pupils and skeletal deformities.
Jacques TS; Holton J; Watts PM; Wills AJ; Smith SE; Hanna MG
J Neurol Neurosurg Psychiatry; 2002 Sep; 73(3):324-6. PubMed ID: 12185172
[TBL] [Abstract][Full Text] [Related]
14. [Tubular aggregate congenital myopathy associated with neuromuscular block].
Zephir H; Stojkovic T; Maurage CA; Hurtevent JF; Vermersch P
Rev Neurol (Paris); 2001 Oct; 157(10):1293-6. PubMed ID: 11885525
[TBL] [Abstract][Full Text] [Related]
15. Congenital myopathy with tubular aggregates and tubulofilamentous IBM-type inclusions.
Fidziańska A; Kamińska A; Ryniewicz B
Neuropediatrics; 2005 Feb; 36(1):35-9. PubMed ID: 15776320
[TBL] [Abstract][Full Text] [Related]
16. Tubular aggregates observed in spindle muscle fiber of horse lumbrical muscle.
Klomkleaw W; Kasashima Y; Kobayashi A; Fuller GA; Morimoto M; Nakade T; Muto M; Oba T; Hamlin RL; Yamaguchi M
Acta Neuropathol; 2001 May; 101(5):509-17. PubMed ID: 11484823
[TBL] [Abstract][Full Text] [Related]
17. Cylindrical Spirals in Skeletal Muscles Originate From the Longitudinal Sarcoplasmic Reticulum.
Xu JW; Liu FC; Li W; Zhao YY; Zhao DD; Luo YB; Lu JQ; Yan CZ
J Neuropathol Exp Neurol; 2016 Feb; 75(2):148-55. PubMed ID: 26733584
[TBL] [Abstract][Full Text] [Related]
18. Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
Finlayson S; Palace J; Belaya K; Walls TJ; Norwood F; Burke G; Holton JL; Pascual-Pascual SI; Cossins J; Beeson D
J Neurol Neurosurg Psychiatry; 2013 Oct; 84(10):1119-25. PubMed ID: 23447650
[TBL] [Abstract][Full Text] [Related]
19. RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.
Samões R; Oliveira J; Taipa R; Coelho T; Cardoso M; Gonçalves A; Santos R; Melo Pires M; Santos M
J Neuromuscul Dis; 2017; 4(1):67-76. PubMed ID: 28269792
[TBL] [Abstract][Full Text] [Related]
20. Tubular aggregate myopathy: a case report.
Kim NR; Suh YL
J Korean Med Sci; 2003 Feb; 18(1):135-40. PubMed ID: 12589105
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
