176 related articles for article (PubMed ID: 32165108)
1. A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy.
Nicolau S; Liewluck T; Elliott JL; Engel AG; Milone M
Neuromuscul Disord; 2020 Mar; 30(3):236-240. PubMed ID: 32165108
[TBL] [Abstract][Full Text] [Related]
2. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
Ghaoui R; Palmio J; Brewer J; Lek M; Needham M; Evilä A; Hackman P; Jonson PH; Penttilä S; Vihola A; Huovinen S; Lindfors M; Davis RL; Waddell L; Kaur S; Yiannikas C; North K; Clarke N; MacArthur DG; Sue CM; Udd B
Neurology; 2016 Jan; 86(4):391-8. PubMed ID: 26718575
[TBL] [Abstract][Full Text] [Related]
3. A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy.
Inoue-Shibui A; Niihori T; Kobayashi M; Suzuki N; Izumi R; Warita H; Hara K; Shirota M; Funayama R; Nakayama K; Nishino I; Aoki M; Aoki Y
J Hum Genet; 2021 Oct; 66(10):965-972. PubMed ID: 33744911
[TBL] [Abstract][Full Text] [Related]
4. DNAJB6 myopathy: a vacuolar myopathy with childhood onset.
Suarez-Cedeno G; Winder T; Milone M
Muscle Nerve; 2014 Apr; 49(4):607-10. PubMed ID: 24170373
[TBL] [Abstract][Full Text] [Related]
5. Differential diagnosis of vacuolar myopathies in the NGS era.
Mair D; Biskup S; Kress W; Abicht A; Brück W; Zechel S; Knop KC; Koenig FB; Tey S; Nikolin S; Eggermann K; Kurth I; Ferbert A; Weis J
Brain Pathol; 2020 Sep; 30(5):877-896. PubMed ID: 32419263
[TBL] [Abstract][Full Text] [Related]
6. A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.
Bouhy D; Juneja M; Katona I; Holmgren A; Asselbergh B; De Winter V; Hochepied T; Goossens S; Haigh JJ; Libert C; Ceuterick-de Groote C; Irobi J; Weis J; Timmerman V
Acta Neuropathol; 2018 Jan; 135(1):131-148. PubMed ID: 28780615
[TBL] [Abstract][Full Text] [Related]
7. Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.
Sandell S; Huovinen S; Palmio J; Raheem O; Lindfors M; Zhao F; Haapasalo H; Udd B
Acta Neuropathol Commun; 2016 Feb; 4():9. PubMed ID: 26847086
[TBL] [Abstract][Full Text] [Related]
8. HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Tedesco B; Vendredy L; Adriaenssens E; Cozzi M; Asselbergh B; Crippa V; Cristofani R; Rusmini P; Ferrari V; Casarotto E; Chierichetti M; Mina F; Pramaggiore P; Galbiati M; Piccolella M; Baets J; Baeke F; De Rycke R; Mouly V; Laurenzi T; Eberini I; Vihola A; Udd B; Weiss L; Kimonis V; Timmerman V; Poletti A
Autophagy; 2023 Aug; 19(8):2217-2239. PubMed ID: 36854646
[TBL] [Abstract][Full Text] [Related]
9. DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.
Sato T; Hayashi YK; Oya Y; Kondo T; Sugie K; Kaneda D; Houzen H; Yabe I; Sasaki H; Noguchi S; Nonaka I; Osawa M; Nishino I
Neuromuscul Disord; 2013 Mar; 23(3):269-76. PubMed ID: 23394708
[TBL] [Abstract][Full Text] [Related]
10. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
Harms MB; Sommerville RB; Allred P; Bell S; Ma D; Cooper P; Lopate G; Pestronk A; Weihl CC; Baloh RH
Ann Neurol; 2012 Mar; 71(3):407-16. PubMed ID: 22334415
[TBL] [Abstract][Full Text] [Related]
11. Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
Cortese A; Laurà M; Casali C; Nishino I; Hayashi YK; Magri S; Taroni F; Stuani C; Saveri P; Moggio M; Ripolone M; Prelle A; Pisciotta C; Sagnelli A; Pichiecchio A; Reilly MM; Buratti E; Pareyson D
Eur J Neurol; 2018 Jan; 25(1):154-163. PubMed ID: 29029362
[TBL] [Abstract][Full Text] [Related]
12. Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
Ruggieri A; Brancati F; Zanotti S; Maggi L; Pasanisi MB; Saredi S; Terracciano C; Antozzi C; D Apice MR; Sangiuolo F; Novelli G; Marshall CR; Scherer SW; Morandi L; Federici L; Massa R; Mora M; Minassian BA
Acta Neuropathol Commun; 2015 Jul; 3():44. PubMed ID: 26205529
[TBL] [Abstract][Full Text] [Related]
13. New family with
Al-Tahan S; Weiss L; Yu H; Tang S; Saporta M; Vihola A; Mozaffar T; Udd B; Kimonis V
Neurol Genet; 2019 Aug; 5(4):e349. PubMed ID: 31403083
[TBL] [Abstract][Full Text] [Related]
14. Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations.
Kim K; Park HJ; Lee JH; Hong J; Ahn SW; Choi YC
Yonsei Med J; 2018 Jul; 59(5):698-701. PubMed ID: 29869469
[TBL] [Abstract][Full Text] [Related]
15. A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy.
Xu L; Geng H; Lv X; Wang G; Yan C; Zhang D; Lin P
J Hum Genet; 2022 Jul; 67(7):441-444. PubMed ID: 35165376
[TBL] [Abstract][Full Text] [Related]
16. Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Echaniz-Laguna A; Geuens T; Petiot P; Péréon Y; Adriaenssens E; Haidar M; Capponi S; Maisonobe T; Fournier E; Dubourg O; Degos B; Salachas F; Lenglet T; Eymard B; Delmont E; Pouget J; Juntas Morales R; Goizet C; Latour P; Timmerman V; Stojkovic T
Hum Mutat; 2017 May; 38(5):556-568. PubMed ID: 28144995
[TBL] [Abstract][Full Text] [Related]
17. Metformin rescues muscle function in BAG3 myofibrillar myopathy models.
Ruparelia AA; McKaige EA; Williams C; Schulze KE; Fuchs M; Oorschot V; Lacene E; Meregalli M; Lee C; Serrano RJ; Baxter EC; Monro K; Torrente Y; Ramm G; Stojkovic T; Lavoie JN; Bryson-Richardson RJ
Autophagy; 2021 Sep; 17(9):2494-2510. PubMed ID: 33030392
[TBL] [Abstract][Full Text] [Related]
18. Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.
Jonson PH; Palmio J; Johari M; Penttilä S; Evilä A; Nelson I; Bonne G; Wiart N; Meyer V; Boland A; Deleuze JF; Masson C; Stojkovic T; Chapon F; Romero NB; Solé G; Ferrer X; Ferreiro A; Hackman P; Richard I; Udd B
Eur J Neurol; 2018 May; 25(5):790-794. PubMed ID: 29437287
[TBL] [Abstract][Full Text] [Related]
19. Autophagic vacuolar pathology in desminopathies.
Weihl CC; Iyadurai S; Baloh RH; Pittman SK; Schmidt RE; Lopate G; Pestronk A; Harms MB
Neuromuscul Disord; 2015 Mar; 25(3):199-206. PubMed ID: 25557463
[TBL] [Abstract][Full Text] [Related]
20. Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.
Daimagüler HS; Akpulat U; Özdemir Ö; Yis U; Güngör S; Talim B; Diniz G; Baydan F; Thiele H; Altmüller J; Nürnberg P; Cirak S
Am J Med Genet A; 2021 Jun; 185(6):1678-1690. PubMed ID: 33694278
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]