case report | Q2782326 |
scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1044739819 |
P356 | DOI | 10.1186/1471-2350-14-89 |
P932 | PMC publication ID | 3846852 |
P698 | PubMed publication ID | 24024685 |
P5875 | ResearchGate publication ID | 256499629 |
P50 | author | Anna Ardissone | Q40131468 |
Marina Mora | Q47504621 | ||
Cinzia Bragato | Q58629978 | ||
Isabella Moroni | Q98569170 | ||
P2093 | author name string | Flavia Blasevich | |
Lucia Morandi | |||
Lorella Caffi | |||
Maria Luisa Bianchi | |||
Sabrina Maestrini | |||
P2860 | cites work | SRBC/cavin-3 is a caveolin adapter protein that regulates caveolae function | Q24317453 |
PTRF-Cavin, a conserved cytoplasmic protein required for caveola formation and function | Q28511660 | ||
SDPR induces membrane curvature and functions in the formation of caveolae | Q30090231 | ||
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations | Q33543165 | ||
Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance | Q34847724 | ||
MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes | Q34988286 | ||
Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle | Q35093498 | ||
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy | Q37328469 | ||
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. | Q42967016 | ||
Biogenesis of caveolae: stepwise assembly of large caveolin and cavin complexes | Q43195594 | ||
Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood. | Q50718959 | ||
Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman. | Q53965197 | ||
Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations | Q55053134 | ||
Cavin fever: regulating caveolae | Q84149367 | ||
P407 | language of work or name | English | Q1860 |
P921 | main subject | congenital disorder | Q727096 |
P304 | page(s) | 89 | |
P577 | publication date | 2013-09-11 | |
P1433 | published in | BMC Medical Genetics | Q15759918 |
P1476 | title | Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy | |
P478 | volume | 14 |