50 related articles for article (PubMed ID: 22091729)
1. A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.
Kennerson ML; Yiu EM; Chuang DT; Kidambi A; Tso SC; Ly C; Chaudhry R; Drew AP; Rance G; Delatycki MB; Züchner S; Ryan MM; Nicholson GA
Hum Mol Genet; 2013 Apr; 22(7):1404-16. PubMed ID: 23297365
[TBL] [Abstract][Full Text] [Related]
2. Gain-of-Function Properties of a Dynamin 2 Mutant Implicated in Charcot-Marie-Tooth Disease.
Tassin TC; Barylko B; Hedde PN; Chen Y; Binns DD; James NG; Mueller JD; Jameson DM; Taussig R; Albanesi JP
Front Cell Neurosci; 2021; 15():745940. PubMed ID: 34744632
[TBL] [Abstract][Full Text] [Related]
3. Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.
Cortese A; Currò R; Ronco R; Blake J; Rossor AM; Bugiardini E; Laurà M; Warner T; Yousry T; Poh R; Polke J; Rebelo A; Dohrn MF; Saporta M; Houlden H; Zuchner S; Reilly MM
Eur J Neurol; 2024 Jan; 31(1):e16063. PubMed ID: 37772343
[TBL] [Abstract][Full Text] [Related]
4. Clinical and genetic features of patients suffering from CMT4J.
Beloribi-Djefaflia S; Morales RJ; Fatehi F; Isapof A; Servais L; Leonard-Louis S; Michaud M; Verdure P; Gidaro T; Pouget J; Poinsignon V; Bonello-Palot N; Attarian S
J Neurol; 2024 Mar; 271(3):1355-1365. PubMed ID: 37950760
[TBL] [Abstract][Full Text] [Related]
5. Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues.
Laiman J; Lin SS; Liu YW
Curr Opin Cell Biol; 2023 Apr; 81():102174. PubMed ID: 37230036
[TBL] [Abstract][Full Text] [Related]
6. Phenotype variability and histopathological findings in patients with a novel DNM2 mutation.
Chen S; Huang P; Qiu Y; Zhou Q; Li X; Zhu M; Hong D
Neuropathology; 2018 Feb; 38(1):34-40. PubMed ID: 28971531
[TBL] [Abstract][Full Text] [Related]
7. Mechanistic analysis of a novel membrane-interacting variable loop in the pleckstrin-homology domain critical for dynamin function.
Khurana H; Baratam K; Bhattacharyya S; Srivastava A; Pucadyil TJ
Proc Natl Acad Sci U S A; 2023 Mar; 120(11):e2215250120. PubMed ID: 36888655
[TBL] [Abstract][Full Text] [Related]
8. Flexible pivoting of dynamin pleckstrin homology domain catalyzes fission: insights into molecular degrees of freedom.
Baratam K; Jha K; Srivastava A
Mol Biol Cell; 2021 Jul; 32(14):1306-1319. PubMed ID: 33979205
[TBL] [Abstract][Full Text] [Related]
9. Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.
Schiavon CR; Shadel GS; Manor U
Front Cell Dev Biol; 2021; 9():624823. PubMed ID: 33598463
[TBL] [Abstract][Full Text] [Related]
10. Disruption of genes associated with Charcot-Marie-Tooth type 2 lead to common behavioural, cellular and molecular defects in Caenorhabditis elegans.
Soh MS; Cheng X; Vijayaraghavan T; Vernon A; Liu J; Neumann B
PLoS One; 2020; 15(4):e0231600. PubMed ID: 32294113
[TBL] [Abstract][Full Text] [Related]
11. Genetic heterogeneity of motor neuropathies.
Bansagi B; Griffin H; Whittaker RG; Antoniadi T; Evangelista T; Miller J; Greenslade M; Forester N; Duff J; Bradshaw A; Kleinle S; Boczonadi V; Steele H; Ramesh V; Franko E; Pyle A; Lochmüller H; Chinnery PF; Horvath R
Neurology; 2017 Mar; 88(13):1226-1234. PubMed ID: 28251916
[TBL] [Abstract][Full Text] [Related]
12. Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.
Echaniz-Laguna A; Nicot AS; Carré S; Franques J; Tranchant C; Dondaine N; Biancalana V; Mandel JL; Laporte J
Neuromuscul Disord; 2007 Dec; 17(11-12):955-9. PubMed ID: 17825552
[TBL] [Abstract][Full Text] [Related]
13. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
Tang B; Liu X; Zhao G; Luo W; Xia K; Pan Q; Cai F; Hu Z; Zhang C; Chen B; Zhang F; Shen L; Zhang R; Jiang H
Arch Neurol; 2005 Aug; 62(8):1201-7. PubMed ID: 16087758
[TBL] [Abstract][Full Text] [Related]
14. [Molecular genetics of inherited neuropathies].
Takashima H
Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
[TBL] [Abstract][Full Text] [Related]
15. Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.
Kovach MJ; Campbell KC; Herman K; Waggoner B; Gelber D; Hughes LF; Kimonis VE
Am J Med Genet; 2002 Apr; 108(4):295-303. PubMed ID: 11920834
[TBL] [Abstract][Full Text] [Related]
16. Phenotypic variability in a large Czech family with a dynamin 2-associated Charcot-Marie-Tooth neuropathy.
Haberlová J; Mazanec R; Ridzoň P; Baránková L; Nürnberg G; Nürnberg P; Sticht H; Huehne K; Seeman P; Rautenstrauss B
J Neurogenet; 2011 Dec; 25(4):182-8. PubMed ID: 22091729
[TBL] [Abstract][Full Text] [Related]
17. A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.
Bitoun M; Stojkovic T; Prudhon B; Maurage CA; Latour P; Vermersch P; Guicheney P
Neuromuscul Disord; 2008 Apr; 18(4):334-8. PubMed ID: 18394888
[TBL] [Abstract][Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
