125 related articles for article (PubMed ID: 23489663)
1. Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood.
Murakami N; Hayashi YK; Oto Y; Shiraishi M; Itabashi H; Kudo K; Nishino I; Nonaka I; Nagai T
Neuromuscul Disord; 2013 May; 23(5):441-4. PubMed ID: 23489663
[TBL] [Abstract][Full Text] [Related]
2. A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.
Dwianingsih EK; Takeshima Y; Itoh K; Yamauchi Y; Awano H; Malueka RG; Nishida A; Ota M; Yagi M; Matsuo M
Mol Genet Metab; 2010; 101(2-3):233-7. PubMed ID: 20638880
[TBL] [Abstract][Full Text] [Related]
3. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
Hayashi YK; Matsuda C; Ogawa M; Goto K; Tominaga K; Mitsuhashi S; Park YE; Nonaka I; Hino-Fukuyo N; Haginoya K; Sugano H; Nishino I
J Clin Invest; 2009 Sep; 119(9):2623-33. PubMed ID: 19726876
[TBL] [Abstract][Full Text] [Related]
4. A new mutation in the
Mancioppi V; Daffara T; Romanisio M; Ceccarini G; Pelosini C; Santini F; Bellone S; Mellone S; Baricich A; Rabbone I; Aimaretti G; Akinci B; Giordano M; Prodam F
Front Endocrinol (Lausanne); 2023; 14():1212729. PubMed ID: 37501786
[TBL] [Abstract][Full Text] [Related]
5. Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.
Ardissone A; Bragato C; Caffi L; Blasevich F; Maestrini S; Bianchi ML; Morandi L; Moroni I; Mora M
BMC Med Genet; 2013 Sep; 14():89. PubMed ID: 24024685
[TBL] [Abstract][Full Text] [Related]
6. Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.
Salle-Teyssières L; Auclair M; Terro F; Nemani M; Elsayed SM; Elsobky E; Lathrop M; Délépine M; Lascols O; Capeau J; Magré J; Vigouroux C
J Clin Endocrinol Metab; 2016 Jul; 101(7):2892-904. PubMed ID: 27144934
[TBL] [Abstract][Full Text] [Related]
7. AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.
Rostami P; Nakhaeimoghadam M; Bijani FM; Sotoudeh A; Rabbani A; Hilbert P; Rezaei N
Ann Endocrinol (Paris); 2013 Feb; 74(1):59-61. PubMed ID: 23337016
[TBL] [Abstract][Full Text] [Related]
8. Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.
Akinci G; Topaloglu H; Akinci B; Onay H; Karadeniz C; Ergul Y; Demir T; Ozcan EE; Altay C; Atik T; Garg A
Eur J Med Genet; 2016 Jun; 59(6-7):320-4. PubMed ID: 27167729
[TBL] [Abstract][Full Text] [Related]
9. Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
Rajab A; Straub V; McCann LJ; Seelow D; Varon R; Barresi R; Schulze A; Lucke B; Lützkendorf S; Karbasiyan M; Bachmann S; Spuler S; Schuelke M
PLoS Genet; 2010 Mar; 6(3):e1000874. PubMed ID: 20300641
[TBL] [Abstract][Full Text] [Related]
10. Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Quijano-Roy S; Martí-Carrera I; Makri S; Mayer M; Maugenre S; Richard P; Berard C; Viollet L; Leheup B; Guicheney P; Pinard JM; Estournet B; Carlier RY
Brain Dev; 2006 May; 28(4):232-42. PubMed ID: 16368217
[TBL] [Abstract][Full Text] [Related]
11. Early course of Berardinelli-Seip congenital lipodystrophy (BSCL).
Eltermann T; Menendez-Castro C; Kienzle HP; Wössner R; Thomas W
Klin Padiatr; 2010 Sep; 222(5):308-9. PubMed ID: 20301053
[TBL] [Abstract][Full Text] [Related]
12. Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy.
Debray FG; Baguette C; Colinet S; Van Maldergem L; Verellen-Dumouin C
Mol Genet Metab; 2013 Jun; 109(2):227-9. PubMed ID: 23647707
[TBL] [Abstract][Full Text] [Related]
13. [Congenital generalized lipodystrophy: a case report with neurological involvement].
Ben Turkia H; Tebib N; Azzouz H; Abdelmoula MS; Ben Chehida A; Hubert P; Douira W; Ben Dridi MF
Arch Pediatr; 2009 Jan; 16(1):27-31. PubMed ID: 19026526
[TBL] [Abstract][Full Text] [Related]
14. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency.
Ho M; Post CM; Donahue LR; Lidov HG; Bronson RT; Goolsby H; Watkins SC; Cox GA; Brown RH
Hum Mol Genet; 2004 Sep; 13(18):1999-2010. PubMed ID: 15254015
[TBL] [Abstract][Full Text] [Related]
15. Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.
Shastry S; Delgado MR; Dirik E; Turkmen M; Agarwal AK; Garg A
Am J Med Genet A; 2010 Sep; 152A(9):2245-53. PubMed ID: 20684003
[TBL] [Abstract][Full Text] [Related]
16. Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps.
Agrawala RK; Choudhury AK; Mohanty BK; Baliarsinha AK
J Pediatr Endocrinol Metab; 2014 Sep; 27(9-10):989-91. PubMed ID: 24825083
[TBL] [Abstract][Full Text] [Related]
17. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.
Louhichi N; Triki C; Quijano-Roy S; Richard P; Makri S; Méziou M; Estournet B; Mrad S; Romero NB; Ayadi H; Guicheney P; Fakhfakh F
Neurogenetics; 2004 Feb; 5(1):27-34. PubMed ID: 14652796
[TBL] [Abstract][Full Text] [Related]
18. A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene.
Huang HH; Chen TH; Hsiao HP; Huang CT; Wang CC; Shiau YH; Chao MC
Kaohsiung J Med Sci; 2010 Nov; 26(11):615-20. PubMed ID: 21126715
[TBL] [Abstract][Full Text] [Related]
19. Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy.
Yoshioka M; Higuchi Y; Fujii T; Aiba H; Toda T
Brain Dev; 2008 Jan; 30(1):59-67. PubMed ID: 17597323
[TBL] [Abstract][Full Text] [Related]
20. Caveolinopathies in Greece.
Papadopoulos C; Papadimas GK; Kekou K; Spengos K; Svigou M; Kitsiou-Tzeli S; Manta P
Neurologist; 2015 Jul; 20(1):8-12. PubMed ID: 26185955
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]