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7. Detection of compound heterozygous variants in LPIN1 does not necessarily imply pathogenicity in a patient with rhabdomyolysis. Finsterer J; Aliyev R F1000Res; 2020; 9():15. PubMed ID: 32913636 [TBL] [Abstract][Full Text] [Related]
8. Case Report: The first probable Hong Kong Chinese case of Yim SW; Chan TYC; Belaramani KM; Man SS; Wong FCK; Chen SPL; Lee HHC; Mak CM; Ching CK F1000Res; 2019; 8():1566. PubMed ID: 31723421 [TBL] [Abstract][Full Text] [Related]
9. Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin-2 (FDX2) gene. Gkiourtzis N; Tramma D; Papadopoulou-Legbelou K; Moutafi M; Evangeliou A Am J Med Genet A; 2023 Dec; 191(12):2843-2849. PubMed ID: 37565517 [TBL] [Abstract][Full Text] [Related]
10. First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood. Pizzamiglio C; Lahiri N; Nirmalananthan N; Sood B; Somalanka S; Ostrowski P; Phadke R; O'Donovan DG; Muntoni F; Quinlivan R Neuromuscul Disord; 2020 Jul; 30(7):566-571. PubMed ID: 32522502 [TBL] [Abstract][Full Text] [Related]
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13. The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers. Kruijt N; van den Bersselaar LR; Kamsteeg EJ; Verbeeck W; Snoeck MMJ; Everaerd DS; Abdo WF; Jansen DRM; Erasmus CE; Jungbluth H; Voermans NC Eur J Neurol; 2021 Feb; 28(2):647-659. PubMed ID: 32978841 [TBL] [Abstract][Full Text] [Related]
14. Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. Cabrera-Serrano M; Caccavelli L; Savarese M; Vihola A; Jokela M; Johari M; Capiod T; Madrange M; Bugiardini E; Brady S; Quinlivan R; Merve A; Scalco R; Hilton-Jones D; Houlden H; Aydin HI; Ceylaner S; Drewes S; Vockley J; Taylor RL; Folland C; Kelly A; Goullee H; Ylikallio E; Auranen M; Tyynismaa H; Udd B; Forrest ARR; Davis MR; Bratkovic D; Manton N; Robertson T; O'Gorman C; McCombe P; Laing NG; Phillips L; de Lonlay P; Ravenscroft G Brain; 2022 Nov; 145(11):3985-3998. PubMed ID: 34957489 [TBL] [Abstract][Full Text] [Related]
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18. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Michot C; Hubert L; Brivet M; De Meirleir L; Valayannopoulos V; Müller-Felber W; Venkateswaran R; Ogier H; Desguerre I; Altuzarra C; Thompson E; Smitka M; Huebner A; Husson M; Horvath R; Chinnery P; Vaz FM; Munnich A; Elpeleg O; Delahodde A; de Keyzer Y; de Lonlay P Hum Mutat; 2010 Jul; 31(7):E1564-73. PubMed ID: 20583302 [TBL] [Abstract][Full Text] [Related]
19. A neglected cause of recurrent rhabdomyolysis, LPIN1 gene defect: a rare case from Turkey. Topal S; Köse MD; Ağın H; Sarı F; Çolak M; Atakul G; Karaarslan U; İşgüder R Turk J Pediatr; 2020; 62(4):647-651. PubMed ID: 32779418 [TBL] [Abstract][Full Text] [Related]
20. Cardiac function and exercise adaptation in 8 children with LPIN1 mutations. Legendre A; Khraiche D; Ou P; Mauvais FX; Madrange M; Guemann AS; Jais JP; Bonnet D; Hamel Y; de Lonlay P Mol Genet Metab; 2018 Mar; 123(3):375-381. PubMed ID: 29325813 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]